Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the pituitary gland (HP:0012503)help
Parent Node:
expand
Abnormality of the anterior pituitary (HP:0011747)help
..Starting node
..expand
Hypopituitarism (HP:0040075)help
Term ID: 40075
Name: Hypopituitarism
Synonym:
Definition:
Comments:
Reference: HP:0040075
Genes and Diseases:
 
       Child Nodes:
........expandAnterior hypopituitarism (HP:0000830) help
................... HP:0000824 Growth hormone deficiency
................... HP:0000871 Panhypopituitarism
................... HP:0008213 Gonadotropin deficiency
................... HP:0008245 Pituitary hypothyroidism
................... HP:0011748 Adrenocorticotropic hormone deficiency
................... HP:0040086 Abnormal prolactin level

 Sister Nodes: 
..expandAnterior pituitary dysgenesis (HP:0010625) help
..expandEctopic anterior pituitary gland (HP:0012731) help
..expandHyperpituitarism (HP:0010514) help
..expandNeoplasm of the anterior pituitary (HP:0011750) help
..expandPituitary calcification (HP:0010513) help
..expandPituitary resistance to thyroid hormone (HP:0008227) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040075HP:0040075Hypopituitarism0AAAS CL E G H808613666ORPHA:869Triple A syndrome57
HP:0040075HP:0040075Hypopituitarism0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0040075HP:0040075Hypopituitarism0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0040075HP:0040075Hypopituitarism0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0040075HP:0040075Hypopituitarism0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0040075HP:0040075Hypopituitarism0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0040075HP:0040075Hypopituitarism0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0040075HP:0040075Hypopituitarism0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0040075HP:0040075Hypopituitarism0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0040075HP:0040075Hypopituitarism0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0040075HP:0040075Hypopituitarism0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0040075HP:0040075Hypopituitarism0ALX3 CL E G H257449ORPHA:391474FrontorhinyHP:0040283 - Occasional9
HP:0040075HP:0040075Hypopituitarism0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0040075HP:0040075Hypopituitarism0APOA5 CL E G H11651917288OMIM:145750Hypertriglyceridemia, familial.7
HP:0040075HP:0040075Hypopituitarism0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0040075HP:0040075Hypopituitarism0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndrome
HP:0040075HP:0040075Hypopituitarism0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0040075HP:0040075Hypopituitarism0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0040075HP:0040075Hypopituitarism0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0040075HP:0040075Hypopituitarism0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040281 - Very frequent276
HP:0040075HP:0040075Hypopituitarism0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0040075HP:0040075Hypopituitarism0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0040075HP:0040075Hypopituitarism0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0040075HP:0040075Hypopituitarism0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0040075HP:0040075Hypopituitarism0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0040075HP:0040075Hypopituitarism0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0040075HP:0040075Hypopituitarism0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0040075HP:0040075Hypopituitarism0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0040075HP:0040075Hypopituitarism0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0040075HP:0040075Hypopituitarism0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0040075HP:0040075Hypopituitarism0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0040075HP:0040075Hypopituitarism0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0040075HP:0040075Hypopituitarism0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephaly200
HP:0040075HP:0040075Hypopituitarism0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0040075HP:0040075Hypopituitarism0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0040075HP:0040075Hypopituitarism0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0040075HP:0040075Hypopituitarism0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0040075HP:0040075Hypopituitarism0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0040075HP:0040075Hypopituitarism0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040281 - Very frequent88
HP:0040075HP:0040075Hypopituitarism0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0040075HP:0040075Hypopituitarism0DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0040075HP:0040075Hypopituitarism0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0040075HP:0040075Hypopituitarism0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0040075HP:0040075Hypopituitarism0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0040075HP:0040075Hypopituitarism0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0040075HP:0040075Hypopituitarism0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0040075HP:0040075Hypopituitarism0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0040075HP:0040075Hypopituitarism0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0040075HP:0040075Hypopituitarism0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephaly22
HP:0040075HP:0040075Hypopituitarism0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0040075HP:0040075Hypopituitarism0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0040075HP:0040075Hypopituitarism0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0040075HP:0040075Hypopituitarism0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0040075HP:0040075Hypopituitarism0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0040075HP:0040075Hypopituitarism0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephaly3
HP:0040075HP:0040075Hypopituitarism0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0040075HP:0040075Hypopituitarism0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0040075HP:0040075Hypopituitarism0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0040075HP:0040075Hypopituitarism0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0040075HP:0040075Hypopituitarism0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0040075HP:0040075Hypopituitarism0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0040075HP:0040075Hypopituitarism0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0040075HP:0040075Hypopituitarism0ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly92
HP:0040075HP:0040075Hypopituitarism0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0040075HP:0040075Hypopituitarism0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0040075HP:0040075Hypopituitarism0FARSA CL E G H21933592OMIM:619013RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0040075HP:0040075Hypopituitarism0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0040075HP:0040075Hypopituitarism0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0040075HP:0040075Hypopituitarism0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0040075HP:0040075Hypopituitarism0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0040075HP:0040075Hypopituitarism0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0040075HP:0040075Hypopituitarism0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0040075HP:0040075Hypopituitarism0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0040075HP:0040075Hypopituitarism0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0040075HP:0040075Hypopituitarism0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephaly17
HP:0040075HP:0040075Hypopituitarism0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome172
HP:0040075HP:0040075Hypopituitarism0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0040075HP:0040075Hypopituitarism0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0040075HP:0040075Hypopituitarism0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0040075HP:0040075Hypopituitarism0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0040075HP:0040075Hypopituitarism0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasia233
HP:0040075HP:0040075Hypopituitarism0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0040075HP:0040075Hypopituitarism0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040280 - Obligate
HP:0040075HP:0040075Hypopituitarism0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0040075HP:0040075Hypopituitarism0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0040075HP:0040075Hypopituitarism0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0040075HP:0040075Hypopituitarism0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0040075HP:0040075Hypopituitarism0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0040075HP:0040075Hypopituitarism0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephaly48
HP:0040075HP:0040075Hypopituitarism0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0040075HP:0040075Hypopituitarism0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0040075HP:0040075Hypopituitarism0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0040075HP:0040075Hypopituitarism0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0040075HP:0040075Hypopituitarism0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0040075HP:0040075Hypopituitarism0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0040075HP:0040075Hypopituitarism0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephaly2
HP:0040075HP:0040075Hypopituitarism0GH1 CL E G H26884261OMIM:612781Growth hormone deficiency, isolated, type IB50
HP:0040075HP:0040075Hypopituitarism0GH1 CL E G H26884261OMIM:173100Isolated growth hormone deficiency, type II50
HP:0040075HP:0040075Hypopituitarism0GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0040075HP:0040075Hypopituitarism0GHSR CL E G H26934267OMIM:615925Growth hormone deficiency, isolated partial37
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040280 - Obligate173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome.173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0040075HP:0040075Hypopituitarism0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephaly173
HP:0040075HP:0040075Hypopituitarism0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0040075HP:0040075Hypopituitarism0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0040075HP:0040075Hypopituitarism0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0040075HP:0040075Hypopituitarism0GMPPA CL E G H2992622923ORPHA:869Triple A syndrome24
HP:0040075HP:0040075Hypopituitarism0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0040075HP:0040075Hypopituitarism0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0040075HP:0040075Hypopituitarism0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0040075HP:0040075Hypopituitarism0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0040075HP:0040075Hypopituitarism0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0040075HP:0040075Hypopituitarism0GPR101 CL E G H8355014963OMIM:300942Chromosome Xq26.3 duplication syndrome5
HP:0040075HP:0040075Hypopituitarism0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0040075HP:0040075Hypopituitarism0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0040075HP:0040075Hypopituitarism0H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0040075HP:0040075Hypopituitarism0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0040075HP:0040075Hypopituitarism0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0040075HP:0040075Hypopituitarism0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0040075HP:0040075Hypopituitarism0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040280 - Obligate21
HP:0040075HP:0040075Hypopituitarism0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0040075HP:0040075Hypopituitarism0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0040075HP:0040075Hypopituitarism0HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia21
HP:0040075HP:0040075Hypopituitarism0HID1 CL E G H28398715736OMIM:619983
HP:0040075HP:0040075Hypopituitarism0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0040075HP:0040075Hypopituitarism0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0040075HP:0040075Hypopituitarism0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0040075HP:0040075Hypopituitarism0IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0040075HP:0040075Hypopituitarism0IGSF1 CL E G H35475948OMIM:300888Hypothyroidism, central, and testicular enlargement12
HP:0040075HP:0040075Hypopituitarism0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0040075HP:0040075Hypopituitarism0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0040075HP:0040075Hypopituitarism0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0040075HP:0040075Hypopituitarism0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0040075HP:0040075Hypopituitarism0KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0040075HP:0040075Hypopituitarism0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0040075HP:0040075Hypopituitarism0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia14
HP:0040075HP:0040075Hypopituitarism0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0040075HP:0040075Hypopituitarism0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0040075HP:0040075Hypopituitarism0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0040075HP:0040075Hypopituitarism0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0040075HP:0040075Hypopituitarism0LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism51
HP:0040075HP:0040075Hypopituitarism0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0040075HP:0040075Hypopituitarism0LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome51
HP:0040075HP:0040075Hypopituitarism0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040280 - Obligate43
HP:0040075HP:0040075Hypopituitarism0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0040075HP:0040075Hypopituitarism0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0040075HP:0040075Hypopituitarism0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0040075HP:0040075Hypopituitarism0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0040075HP:0040075Hypopituitarism0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0040075HP:0040075Hypopituitarism0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0040075HP:0040075Hypopituitarism0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0040075HP:0040075Hypopituitarism0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 2525
HP:0040075HP:0040075Hypopituitarism0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0040075HP:0040075Hypopituitarism0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0040075HP:0040075Hypopituitarism0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0040075HP:0040075Hypopituitarism0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0040075HP:0040075Hypopituitarism0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0040075HP:0040075Hypopituitarism0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0040075HP:0040075Hypopituitarism0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0040075HP:0040075Hypopituitarism0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0040075HP:0040075Hypopituitarism0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0040075HP:0040075Hypopituitarism0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0040075HP:0040075Hypopituitarism0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0040075HP:0040075Hypopituitarism0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0040075HP:0040075Hypopituitarism0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0040075HP:0040075Hypopituitarism0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0040075HP:0040075Hypopituitarism0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0040075HP:0040075Hypopituitarism0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0040075HP:0040075Hypopituitarism0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0040075HP:0040075Hypopituitarism0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephaly45
HP:0040075HP:0040075Hypopituitarism0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0040075HP:0040075Hypopituitarism0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0040075HP:0040075Hypopituitarism0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0040075HP:0040075Hypopituitarism0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0040075HP:0040075Hypopituitarism0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040280 - Obligate41
HP:0040075HP:0040075Hypopituitarism0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiency65
HP:0040075HP:0040075Hypopituitarism0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0040075HP:0040075Hypopituitarism0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0040075HP:0040075Hypopituitarism0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0040075HP:0040075Hypopituitarism0PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0040075HP:0040075Hypopituitarism0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0040075HP:0040075Hypopituitarism0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0040075HP:0040075Hypopituitarism0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0040075HP:0040075Hypopituitarism0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0040075HP:0040075Hypopituitarism0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0040075HP:0040075Hypopituitarism0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiency27
HP:0040075HP:0040075Hypopituitarism0POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair27
HP:0040075HP:0040075Hypopituitarism0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040280 - Obligate36
HP:0040075HP:0040075Hypopituitarism0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0040075HP:0040075Hypopituitarism0POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0040075HP:0040075Hypopituitarism0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0040075HP:0040075Hypopituitarism0PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 227
HP:0040075HP:0040075Hypopituitarism0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0040075HP:0040075Hypopituitarism0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0040075HP:0040075Hypopituitarism0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0040075HP:0040075Hypopituitarism0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0040075HP:0040075Hypopituitarism0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0040075HP:0040075Hypopituitarism0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040280 - Obligate54
HP:0040075HP:0040075Hypopituitarism0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0040075HP:0040075Hypopituitarism0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040280 - Obligate54
HP:0040075HP:0040075Hypopituitarism0PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 254
HP:0040075HP:0040075Hypopituitarism0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0040075HP:0040075Hypopituitarism0PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0040075HP:0040075Hypopituitarism0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0040075HP:0040075Hypopituitarism0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0040075HP:0040075Hypopituitarism0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0040075HP:0040075Hypopituitarism0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0040075HP:0040075Hypopituitarism0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephaly665
HP:0040075HP:0040075Hypopituitarism0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0040075HP:0040075Hypopituitarism0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0040075HP:0040075Hypopituitarism0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0040075HP:0040075Hypopituitarism0RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0040075HP:0040075Hypopituitarism0RNPC3 CL E G H5559918666OMIM:618160Isolated growth hormone deficiency, type V
HP:0040075HP:0040075Hypopituitarism0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0040075HP:0040075Hypopituitarism0RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndrome125
HP:0040075HP:0040075Hypopituitarism0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0040075HP:0040075Hypopituitarism0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0040075HP:0040075Hypopituitarism0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0040075HP:0040075Hypopituitarism0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0040075HP:0040075Hypopituitarism0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0040075HP:0040075Hypopituitarism0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0040075HP:0040075Hypopituitarism0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0040075HP:0040075Hypopituitarism0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0040075HP:0040075Hypopituitarism0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephaly67
HP:0040075HP:0040075Hypopituitarism0SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0040075HP:0040075Hypopituitarism0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0040075HP:0040075Hypopituitarism0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0040075HP:0040075Hypopituitarism0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0040075HP:0040075Hypopituitarism0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0040075HP:0040075Hypopituitarism0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0040075HP:0040075Hypopituitarism0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0040075HP:0040075Hypopituitarism0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0040075HP:0040075Hypopituitarism0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included22
HP:0040075HP:0040075Hypopituitarism0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0040075HP:0040075Hypopituitarism0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0040075HP:0040075Hypopituitarism0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0040075HP:0040075Hypopituitarism0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0040075HP:0040075Hypopituitarism0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0040075HP:0040075Hypopituitarism0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0040075HP:0040075Hypopituitarism0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0040075HP:0040075Hypopituitarism0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0040075HP:0040075Hypopituitarism0SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency24
HP:0040075HP:0040075Hypopituitarism0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040280 - Obligate24
HP:0040075HP:0040075Hypopituitarism0SOX3 CL E G H665811199OMIM:312000Panhypopituitarism, X-linked24
HP:0040075HP:0040075Hypopituitarism0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0040075HP:0040075Hypopituitarism0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0040075HP:0040075Hypopituitarism0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0040075HP:0040075Hypopituitarism0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0040075HP:0040075Hypopituitarism0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0040075HP:0040075Hypopituitarism0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0040075HP:0040075Hypopituitarism0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0040075HP:0040075Hypopituitarism0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0040075HP:0040075Hypopituitarism0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0040075HP:0040075Hypopituitarism0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephaly99
HP:0040075HP:0040075Hypopituitarism0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0040075HP:0040075Hypopituitarism0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0040075HP:0040075Hypopituitarism0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0040075HP:0040075Hypopituitarism0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0040075HP:0040075Hypopituitarism0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome52
HP:0040075HP:0040075Hypopituitarism0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0040075HP:0040075Hypopituitarism0TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated57
HP:0040075HP:0040075Hypopituitarism0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0040075HP:0040075Hypopituitarism0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephaly1
HP:0040075HP:0040075Hypopituitarism0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0040075HP:0040075Hypopituitarism0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0040075HP:0040075Hypopituitarism0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephaly32
HP:0040075HP:0040075Hypopituitarism0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0040075HP:0040075Hypopituitarism0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0040075HP:0040075Hypopituitarism0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome166
HP:0040075HP:0040075Hypopituitarism0TMEM67 CL E G H9114728396ORPHA:140976RHYNS syndromeHP:0040281 - Very frequent166
HP:0040075HP:0040075Hypopituitarism0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0040075HP:0040075Hypopituitarism0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0040075HP:0040075Hypopituitarism0TP63 CL E G H862615979ORPHA:1896EEC syndrome140
HP:0040075HP:0040075Hypopituitarism0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0040075HP:0040075Hypopituitarism0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndrome27
HP:0040075HP:0040075Hypopituitarism0TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndrome2
HP:0040075HP:0040075Hypopituitarism0TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndrome
HP:0040075HP:0040075Hypopituitarism0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0040075HP:0040075Hypopituitarism0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0040075HP:0040075Hypopituitarism0WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 183
HP:0040075HP:0040075Hypopituitarism0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0040075HP:0040075Hypopituitarism0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0040075HP:0040075Hypopituitarism0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0040075HP:0040075Hypopituitarism0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0040075HP:0040075Hypopituitarism0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0040075HP:0040075Hypopituitarism0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0040075HP:0040075Hypopituitarism0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0040075HP:0040075Hypopituitarism0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0040075HP:0040075Hypopituitarism0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephaly34
HP:0040075HP:0040075Hypopituitarism0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0040075HP:0040075Hypopituitarism0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0040075HP:0040075Hypopituitarism0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosisHP:0040283 - Occasional5
HP:0040075HP:0040075Hypopituitarism0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040283 - Occasional5
HP:0040075HP:0000830Anterior hypopituitarism1AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0040075HP:0000830Anterior hypopituitarism1ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0040075HP:0000830Anterior hypopituitarism1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0040075HP:0000830Anterior hypopituitarism1ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0040075HP:0000830Anterior hypopituitarism1ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0040075HP:0000830Anterior hypopituitarism1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0040075HP:0000830Anterior hypopituitarism1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040281 - Very frequent95
HP:0040075HP:0000830Anterior hypopituitarism1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040283 - Occasional95
HP:0040075HP:0000830Anterior hypopituitarism1AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0040075HP:0000830Anterior hypopituitarism1ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0040075HP:0000830Anterior hypopituitarism1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0040075HP:0000830Anterior hypopituitarism1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0040075HP:0000830Anterior hypopituitarism1ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0040075HP:0000830Anterior hypopituitarism1ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent
HP:0040075HP:0000830Anterior hypopituitarism1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0040075HP:0000830Anterior hypopituitarism1BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0040075HP:0000830Anterior hypopituitarism1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0040075HP:0000830Anterior hypopituitarism1BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0040075HP:0000830Anterior hypopituitarism1BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0040075HP:0000830Anterior hypopituitarism1BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0040075HP:0000830Anterior hypopituitarism1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0040075HP:0000830Anterior hypopituitarism1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040283 - Occasional636
HP:0040075HP:0000830Anterior hypopituitarism1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0040075HP:0000830Anterior hypopituitarism1CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0040075HP:0000830Anterior hypopituitarism1CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0040075HP:0000830Anterior hypopituitarism1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0040075HP:0000830Anterior hypopituitarism1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0040075HP:0000830Anterior hypopituitarism1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0040075HP:0000830Anterior hypopituitarism1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0040075HP:0000830Anterior hypopituitarism1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0040075HP:0000830Anterior hypopituitarism1CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent200
HP:0040075HP:0000830Anterior hypopituitarism1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0040075HP:0000830Anterior hypopituitarism1CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0040075HP:0000830Anterior hypopituitarism1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0040075HP:0000830Anterior hypopituitarism1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0040075HP:0000830Anterior hypopituitarism1CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0040075HP:0000830Anterior hypopituitarism1CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0040075HP:0000830Anterior hypopituitarism1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0040075HP:0000830Anterior hypopituitarism1DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0040075HP:0000830Anterior hypopituitarism1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0040075HP:0000830Anterior hypopituitarism1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0040075HP:0000830Anterior hypopituitarism1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0040075HP:0000830Anterior hypopituitarism1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0040075HP:0000830Anterior hypopituitarism1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0040075HP:0000830Anterior hypopituitarism1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0040075HP:0000830Anterior hypopituitarism1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0040075HP:0000830Anterior hypopituitarism1DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent22
HP:0040075HP:0000830Anterior hypopituitarism1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0040075HP:0000830Anterior hypopituitarism1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0040075HP:0000830Anterior hypopituitarism1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0040075HP:0000830Anterior hypopituitarism1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0040075HP:0000830Anterior hypopituitarism1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0040075HP:0000830Anterior hypopituitarism1DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent3
HP:0040075HP:0000830Anterior hypopituitarism1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0040075HP:0000830Anterior hypopituitarism1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0040075HP:0000830Anterior hypopituitarism1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0040075HP:0000830Anterior hypopituitarism1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional115
HP:0040075HP:0000830Anterior hypopituitarism1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional11
HP:0040075HP:0000830Anterior hypopituitarism1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0040075HP:0000830Anterior hypopituitarism1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0040075HP:0000830Anterior hypopituitarism1ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly92
HP:0040075HP:0000830Anterior hypopituitarism1FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0040075HP:0000830Anterior hypopituitarism1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0040075HP:0000830Anterior hypopituitarism1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0040075HP:0000830Anterior hypopituitarism1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0040075HP:0000830Anterior hypopituitarism1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0040075HP:0000830Anterior hypopituitarism1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0040075HP:0000830Anterior hypopituitarism1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0040075HP:0000830Anterior hypopituitarism1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0040075HP:0000830Anterior hypopituitarism1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0040075HP:0000830Anterior hypopituitarism1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0040075HP:0000830Anterior hypopituitarism1FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent17
HP:0040075HP:0000830Anterior hypopituitarism1FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome172
HP:0040075HP:0000830Anterior hypopituitarism1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0040075HP:0000830Anterior hypopituitarism1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0040075HP:0000830Anterior hypopituitarism1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0040075HP:0000830Anterior hypopituitarism1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0040075HP:0000830Anterior hypopituitarism1FLNB CL E G H23173755ORPHA:1263Boomerang dysplasia233
HP:0040075HP:0000830Anterior hypopituitarism1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0040075HP:0000830Anterior hypopituitarism1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0040075HP:0000830Anterior hypopituitarism1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0040075HP:0000830Anterior hypopituitarism1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0040075HP:0000830Anterior hypopituitarism1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0040075HP:0000830Anterior hypopituitarism1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0040075HP:0000830Anterior hypopituitarism1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0040075HP:0000830Anterior hypopituitarism1FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent48
HP:0040075HP:0000830Anterior hypopituitarism1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0040075HP:0000830Anterior hypopituitarism1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0040075HP:0000830Anterior hypopituitarism1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0040075HP:0000830Anterior hypopituitarism1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0040075HP:0000830Anterior hypopituitarism1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0040075HP:0000830Anterior hypopituitarism1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0040075HP:0000830Anterior hypopituitarism1GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent2
HP:0040075HP:0000830Anterior hypopituitarism1GH1 CL E G H26884261OMIM:612781Growth hormone deficiency, isolated, type IB50
HP:0040075HP:0000830Anterior hypopituitarism1GH1 CL E G H26884261OMIM:173100Isolated growth hormone deficiency, type II50
HP:0040075HP:0000830Anterior hypopituitarism1GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0040075HP:0000830Anterior hypopituitarism1GHSR CL E G H26934267OMIM:615925Growth hormone deficiency, isolated partial37
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0040075HP:0000830Anterior hypopituitarism1GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent173
HP:0040075HP:0000830Anterior hypopituitarism1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0040075HP:0000830Anterior hypopituitarism1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0040075HP:0000830Anterior hypopituitarism1GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0040075HP:0000830Anterior hypopituitarism1GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0040075HP:0000830Anterior hypopituitarism1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0040075HP:0000830Anterior hypopituitarism1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0040075HP:0000830Anterior hypopituitarism1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0040075HP:0000830Anterior hypopituitarism1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0040075HP:0000830Anterior hypopituitarism1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040281 - Very frequent5
HP:0040075HP:0000830Anterior hypopituitarism1GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
HP:0040075HP:0000830Anterior hypopituitarism1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0040075HP:0000830Anterior hypopituitarism1H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0040075HP:0000830Anterior hypopituitarism1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0040075HP:0000830Anterior hypopituitarism1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0040075HP:0000830Anterior hypopituitarism1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0040075HP:0000830Anterior hypopituitarism1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0040075HP:0000830Anterior hypopituitarism1HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia21
HP:0040075HP:0000830Anterior hypopituitarism1HID1 CL E G H28398715736OMIM:619983
HP:0040075HP:0000830Anterior hypopituitarism1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0040075HP:0000830Anterior hypopituitarism1IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome25
HP:0040075HP:0000830Anterior hypopituitarism1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0040075HP:0000830Anterior hypopituitarism1IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0040075HP:0000830Anterior hypopituitarism1IGSF1 CL E G H35475948OMIM:300888Hypothyroidism, central, and testicular enlargement12
HP:0040075HP:0000830Anterior hypopituitarism1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0040075HP:0000830Anterior hypopituitarism1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000830Anterior hypopituitarism1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0040075HP:0000830Anterior hypopituitarism1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0040075HP:0000830Anterior hypopituitarism1KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0040075HP:0000830Anterior hypopituitarism1KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0040075HP:0000830Anterior hypopituitarism1KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia14
HP:0040075HP:0000830Anterior hypopituitarism1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0040075HP:0000830Anterior hypopituitarism1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0040075HP:0000830Anterior hypopituitarism1LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0040075HP:0000830Anterior hypopituitarism1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0040075HP:0000830Anterior hypopituitarism1LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism.51
HP:0040075HP:0000830Anterior hypopituitarism1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0040075HP:0000830Anterior hypopituitarism1LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome51
HP:0040075HP:0000830Anterior hypopituitarism1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0040075HP:0000830Anterior hypopituitarism1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0040075HP:0000830Anterior hypopituitarism1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0040075HP:0000830Anterior hypopituitarism1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0040075HP:0000830Anterior hypopituitarism1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0040075HP:0000830Anterior hypopituitarism1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0040075HP:0000830Anterior hypopituitarism1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0040075HP:0000830Anterior hypopituitarism1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0040075HP:0000830Anterior hypopituitarism1MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 2525
HP:0040075HP:0000830Anterior hypopituitarism1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040283 - Occasional462
HP:0040075HP:0000830Anterior hypopituitarism1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0040075HP:0000830Anterior hypopituitarism1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000830Anterior hypopituitarism1MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0040075HP:0000830Anterior hypopituitarism1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0040075HP:0000830Anterior hypopituitarism1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0040075HP:0000830Anterior hypopituitarism1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0040075HP:0000830Anterior hypopituitarism1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0040075HP:0000830Anterior hypopituitarism1NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0040075HP:0000830Anterior hypopituitarism1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0040075HP:0000830Anterior hypopituitarism1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0040075HP:0000830Anterior hypopituitarism1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0040075HP:0000830Anterior hypopituitarism1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0040075HP:0000830Anterior hypopituitarism1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0040075HP:0000830Anterior hypopituitarism1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0040075HP:0000830Anterior hypopituitarism1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0040075HP:0000830Anterior hypopituitarism1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0040075HP:0000830Anterior hypopituitarism1NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent45
HP:0040075HP:0000830Anterior hypopituitarism1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0040075HP:0000830Anterior hypopituitarism1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0040075HP:0000830Anterior hypopituitarism1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0040075HP:0000830Anterior hypopituitarism1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0040075HP:0000830Anterior hypopituitarism1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0040075HP:0000830Anterior hypopituitarism1PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiency65
HP:0040075HP:0000830Anterior hypopituitarism1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0040075HP:0000830Anterior hypopituitarism1PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0040075HP:0000830Anterior hypopituitarism1PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0040075HP:0000830Anterior hypopituitarism1PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0040075HP:0000830Anterior hypopituitarism1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0040075HP:0000830Anterior hypopituitarism1PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0040075HP:0000830Anterior hypopituitarism1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0040075HP:0000830Anterior hypopituitarism1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0040075HP:0000830Anterior hypopituitarism1POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0040075HP:0000830Anterior hypopituitarism1POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiency27
HP:0040075HP:0000830Anterior hypopituitarism1POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair27
HP:0040075HP:0000830Anterior hypopituitarism1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0040075HP:0000830Anterior hypopituitarism1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0040075HP:0000830Anterior hypopituitarism1POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0040075HP:0000830Anterior hypopituitarism1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0040075HP:0000830Anterior hypopituitarism1PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 227
HP:0040075HP:0000830Anterior hypopituitarism1PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0040075HP:0000830Anterior hypopituitarism1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0040075HP:0000830Anterior hypopituitarism1PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0040075HP:0000830Anterior hypopituitarism1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0040075HP:0000830Anterior hypopituitarism1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0040075HP:0000830Anterior hypopituitarism1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0040075HP:0000830Anterior hypopituitarism1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0040075HP:0000830Anterior hypopituitarism1PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarism54
HP:0040075HP:0000830Anterior hypopituitarism1PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 254
HP:0040075HP:0000830Anterior hypopituitarism1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0040075HP:0000830Anterior hypopituitarism1PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0040075HP:0000830Anterior hypopituitarism1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0040075HP:0000830Anterior hypopituitarism1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0040075HP:0000830Anterior hypopituitarism1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0040075HP:0000830Anterior hypopituitarism1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0040075HP:0000830Anterior hypopituitarism1PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent665
HP:0040075HP:0000830Anterior hypopituitarism1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000830Anterior hypopituitarism1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000830Anterior hypopituitarism1RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0040075HP:0000830Anterior hypopituitarism1RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0040075HP:0000830Anterior hypopituitarism1RNPC3 CL E G H5559918666OMIM:618160Isolated growth hormone deficiency, type V
HP:0040075HP:0000830Anterior hypopituitarism1RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0040075HP:0000830Anterior hypopituitarism1RRM2B CL E G H5048417296ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent125
HP:0040075HP:0000830Anterior hypopituitarism1SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0040075HP:0000830Anterior hypopituitarism1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0040075HP:0000830Anterior hypopituitarism1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0040075HP:0000830Anterior hypopituitarism1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0040075HP:0000830Anterior hypopituitarism1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0040075HP:0000830Anterior hypopituitarism1SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0040075HP:0000830Anterior hypopituitarism1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0040075HP:0000830Anterior hypopituitarism1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0040075HP:0000830Anterior hypopituitarism1SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent67
HP:0040075HP:0000830Anterior hypopituitarism1SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0040075HP:0000830Anterior hypopituitarism1SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndrome9
HP:0040075HP:0000830Anterior hypopituitarism1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0040075HP:0000830Anterior hypopituitarism1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0040075HP:0000830Anterior hypopituitarism1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0040075HP:0000830Anterior hypopituitarism1SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intolerance104
HP:0040075HP:0000830Anterior hypopituitarism1SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0040075HP:0000830Anterior hypopituitarism1SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0040075HP:0000830Anterior hypopituitarism1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0040075HP:0000830Anterior hypopituitarism1SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0040075HP:0000830Anterior hypopituitarism1SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0040075HP:0000830Anterior hypopituitarism1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000830Anterior hypopituitarism1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000830Anterior hypopituitarism1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0040075HP:0000830Anterior hypopituitarism1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0040075HP:0000830Anterior hypopituitarism1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0040075HP:0000830Anterior hypopituitarism1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0040075HP:0000830Anterior hypopituitarism1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0040075HP:0000830Anterior hypopituitarism1SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency24
HP:0040075HP:0000830Anterior hypopituitarism1SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarism24
HP:0040075HP:0000830Anterior hypopituitarism1SOX3 CL E G H665811199OMIM:312000Panhypopituitarism, X-linked24
HP:0040075HP:0000830Anterior hypopituitarism1SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiency24
HP:0040075HP:0000830Anterior hypopituitarism1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0040075HP:0000830Anterior hypopituitarism1SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDG80
HP:0040075HP:0000830Anterior hypopituitarism1SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0040075HP:0000830Anterior hypopituitarism1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0040075HP:0000830Anterior hypopituitarism1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0040075HP:0000830Anterior hypopituitarism1STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0040075HP:0000830Anterior hypopituitarism1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0040075HP:0000830Anterior hypopituitarism1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0040075HP:0000830Anterior hypopituitarism1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0040075HP:0000830Anterior hypopituitarism1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0040075HP:0000830Anterior hypopituitarism1STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent99
HP:0040075HP:0000830Anterior hypopituitarism1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0040075HP:0000830Anterior hypopituitarism1SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0040075HP:0000830Anterior hypopituitarism1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0040075HP:0000830Anterior hypopituitarism1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0040075HP:0000830Anterior hypopituitarism1TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome52
HP:0040075HP:0000830Anterior hypopituitarism1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0040075HP:0000830Anterior hypopituitarism1TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated57
HP:0040075HP:0000830Anterior hypopituitarism1TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0040075HP:0000830Anterior hypopituitarism1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0040075HP:0000830Anterior hypopituitarism1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0040075HP:0000830Anterior hypopituitarism1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0040075HP:0000830Anterior hypopituitarism1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0040075HP:0000830Anterior hypopituitarism1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0040075HP:0000830Anterior hypopituitarism1TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent1
HP:0040075HP:0000830Anterior hypopituitarism1TERT CL E G H701511730ORPHA:1501Adrenocortical carcinoma238
HP:0040075HP:0000830Anterior hypopituitarism1TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0040075HP:0000830Anterior hypopituitarism1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0040075HP:0000830Anterior hypopituitarism1TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0040075HP:0000830Anterior hypopituitarism1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0040075HP:0000830Anterior hypopituitarism1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0040075HP:0000830Anterior hypopituitarism1TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0040075HP:0000830Anterior hypopituitarism1TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinoma911
HP:0040075HP:0000830Anterior hypopituitarism1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0040075HP:0000830Anterior hypopituitarism1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0040075HP:0000830Anterior hypopituitarism1TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0040075HP:0000830Anterior hypopituitarism1TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040283 - Occasional27
HP:0040075HP:0000830Anterior hypopituitarism1TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndrome2
HP:0040075HP:0000830Anterior hypopituitarism1TRNL1 CL E G H45677490ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent
HP:0040075HP:0000830Anterior hypopituitarism1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0040075HP:0000830Anterior hypopituitarism1VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0040075HP:0000830Anterior hypopituitarism1WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 183
HP:0040075HP:0000830Anterior hypopituitarism1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0040075HP:0000830Anterior hypopituitarism1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0040075HP:0000830Anterior hypopituitarism1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0040075HP:0000830Anterior hypopituitarism1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0040075HP:0000830Anterior hypopituitarism1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0040075HP:0000830Anterior hypopituitarism1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0040075HP:0000830Anterior hypopituitarism1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0040075HP:0000830Anterior hypopituitarism1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0040075HP:0000830Anterior hypopituitarism1ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent34
HP:0040075HP:0000830Anterior hypopituitarism1ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0040075HP:0000830Anterior hypopituitarism1ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinoma
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040284 - Very rare16
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome47
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0040075HP:0008245Pituitary hypothyroidism2AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0040075HP:0040086Abnormal prolactin level2AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0040075HP:0008245Pituitary hypothyroidism2AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome
HP:0040075HP:0008245Pituitary hypothyroidism2ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0040075HP:0040086Abnormal prolactin level2BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0040075HP:0008245Pituitary hypothyroidism2BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0040075HP:0008245Pituitary hypothyroidism2BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040283 - Occasional8
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0040075HP:0008245Pituitary hypothyroidism2CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0040075HP:0000871Panhypopituitarism2CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000871Panhypopituitarism2CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000871Panhypopituitarism2CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000871Panhypopituitarism2CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000871Panhypopituitarism2CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional200
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0040075HP:0008213Gonadotropin deficiency2CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0040075HP:0008245Pituitary hypothyroidism2CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0040075HP:0040086Abnormal prolactin level2DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000871Panhypopituitarism2DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000871Panhypopituitarism2DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000871Panhypopituitarism2DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000871Panhypopituitarism2DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000871Panhypopituitarism2DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional22
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000871Panhypopituitarism2DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000871Panhypopituitarism2DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000871Panhypopituitarism2DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000871Panhypopituitarism2DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000871Panhypopituitarism2DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional3
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ESCO2 CL E G H15757027230OMIM:216100Cleft lip/palate with abnormal thumbs and microcephaly92
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0040075HP:0000871Panhypopituitarism2FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000871Panhypopituitarism2FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000871Panhypopituitarism2FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000871Panhypopituitarism2FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000871Panhypopituitarism2FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional17
HP:0040075HP:0008213Gonadotropin deficiency2FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0040075HP:0000871Panhypopituitarism2FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0040075HP:0000871Panhypopituitarism2FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0040075HP:0000871Panhypopituitarism2FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional172
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FLNB CL E G H23173755ORPHA:1263Boomerang dysplasiaHP:0040281 - Very frequent233
HP:0040075HP:0040086Abnormal prolactin level2FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0040075HP:0008245Pituitary hypothyroidism2FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000871Panhypopituitarism2FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000871Panhypopituitarism2FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000871Panhypopituitarism2FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000871Panhypopituitarism2FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0000871Panhypopituitarism2FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional48
HP:0040075HP:0008213Gonadotropin deficiency2FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040280 - Obligate23
HP:0040075HP:0000871Panhypopituitarism2GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000871Panhypopituitarism2GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000871Panhypopituitarism2GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000871Panhypopituitarism2GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000871Panhypopituitarism2GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional2
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GH1 CL E G H26884261OMIM:612781Growth hormone deficiency, isolated, type IB50
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GH1 CL E G H26884261OMIM:173100Isolated growth hormone deficiency, type II50
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GHSR CL E G H26934267OMIM:615925Growth hormone deficiency, isolated partial37
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0000871Panhypopituitarism2GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0008245Pituitary hypothyroidism2GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0040075HP:0040086Abnormal prolactin level2GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0040075HP:0000871Panhypopituitarism2GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9173
HP:0040075HP:0000871Panhypopituitarism2GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0000871Panhypopituitarism2GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0000871Panhypopituitarism2GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0000871Panhypopituitarism2GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional173
HP:0040075HP:0008213Gonadotropin deficiency2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0040075HP:0008245Pituitary hypothyroidism2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0040075HP:0000871Panhypopituitarism2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0040075HP:0040086Abnormal prolactin level2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0040075HP:0000871Panhypopituitarism2GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0040075HP:0040086Abnormal prolactin level2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare101
HP:0040075HP:0040086Abnormal prolactin level2GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0040075HP:0000871Panhypopituitarism2GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2H19-ICR CL E G H105259599OMIM:180860Silver-Russell syndrome
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0040075HP:0040086Abnormal prolactin level2HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0040075HP:0008245Pituitary hypothyroidism2HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0040075HP:0000871Panhypopituitarism2HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0040075HP:0040086Abnormal prolactin level2HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0040075HP:0008245Pituitary hypothyroidism2HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040281 - Very frequent21
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2HESX1 CL E G H88204877OMIM:182230Septooptic dysplasia21
HP:0040075HP:0008245Pituitary hypothyroidism2HID1 CL E G H28398715736OMIM:619983
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2IGF2 CL E G H34815466OMIM:180860Silver-Russell syndrome9
HP:0040075HP:0040086Abnormal prolactin level2IGSF1 CL E G H35475948OMIM:300888Hypothyroidism, central, and testicular enlargement12
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040284 - Very rare283
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040284 - Very rare283
HP:0040075HP:0000871Panhypopituitarism2KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2KATNIP CL E G H2324729068OMIM:616784JOUBERT SYNDROME 26; JBTS26
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0040075HP:0008213Gonadotropin deficiency2KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia.14
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0040075HP:0008245Pituitary hypothyroidism2LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040282 - Frequent47
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0040075HP:0008245Pituitary hypothyroidism2LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency.46
HP:0040075HP:0008245Pituitary hypothyroidism2LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040282 - Frequent46
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism51
HP:0040075HP:0008213Gonadotropin deficiency2LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism.51
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0040075HP:0008245Pituitary hypothyroidism2LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040281 - Very frequent51
HP:0040075HP:0000871Panhypopituitarism2LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0040075HP:0040086Abnormal prolactin level2LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0040075HP:0008213Gonadotropin deficiency2LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0040075HP:0008245Pituitary hypothyroidism2LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040283 - Occasional51
HP:0040075HP:0008245Pituitary hypothyroidism2LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0040075HP:0040086Abnormal prolactin level2LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0040075HP:0008245Pituitary hypothyroidism2LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040281 - Very frequent43
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0040075HP:0000871Panhypopituitarism2LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0040075HP:0040086Abnormal prolactin level2LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0040075HP:0000871Panhypopituitarism2MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 2525
HP:0040075HP:0008245Pituitary hypothyroidism2MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0040075HP:0040086Abnormal prolactin level2NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0040075HP:0008245Pituitary hypothyroidism2NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040283 - Occasional11
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0040075HP:0008213Gonadotropin deficiency2NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000871Panhypopituitarism2NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000871Panhypopituitarism2NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000871Panhypopituitarism2NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000871Panhypopituitarism2NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000871Panhypopituitarism2NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional45
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0040075HP:0040086Abnormal prolactin level2OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0040075HP:0008245Pituitary hypothyroidism2OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0040075HP:0008213Gonadotropin deficiency2PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0040075HP:0008245Pituitary hypothyroidism2PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040283 - Occasional65
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent113
HP:0040075HP:0008245Pituitary hypothyroidism2PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0040075HP:0040086Abnormal prolactin level2PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0040075HP:0008245Pituitary hypothyroidism2PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0040075HP:0040086Abnormal prolactin level2PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PITX2 CL E G H53089005OMIM:180500Axenfeld-rieger syndrome, type 151
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0040075HP:0000871Panhypopituitarism2PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0040075HP:0008245Pituitary hypothyroidism2POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0040075HP:0008213Gonadotropin deficiency2POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040283 - Occasional27
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair27
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair.27
HP:0040075HP:0008213Gonadotropin deficiency2POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair.27
HP:0040075HP:0040086Abnormal prolactin level2POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0040075HP:0008245Pituitary hypothyroidism2POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0040075HP:0000871Panhypopituitarism2POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0040075HP:0040086Abnormal prolactin level2POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0040075HP:0008245Pituitary hypothyroidism2POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040281 - Very frequent36
HP:0040075HP:0040086Abnormal prolactin level2POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0040075HP:0008245Pituitary hypothyroidism2POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PREPL CL E G H958130228OMIM:616224Myasthenic syndrome, congenital, 227
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent134
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0040075HP:0008245Pituitary hypothyroidism2PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0040075HP:0040086Abnormal prolactin level2PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0040075HP:0008245Pituitary hypothyroidism2PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040281 - Very frequent54
HP:0040075HP:0000871Panhypopituitarism2PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0040075HP:0040086Abnormal prolactin level2PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0040075HP:0008245Pituitary hypothyroidism2PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0040075HP:0040086Abnormal prolactin level2PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0040075HP:0000871Panhypopituitarism2PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 2.54
HP:0040075HP:0040086Abnormal prolactin level2PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 254
HP:0040075HP:0000871Panhypopituitarism2PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000871Panhypopituitarism2PTCH1 CL E G H57279585OMIM:610828Holoprosencephaly 7665
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000871Panhypopituitarism2PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000871Panhypopituitarism2PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000871Panhypopituitarism2PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000871Panhypopituitarism2PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional665
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0040075HP:0040086Abnormal prolactin level2RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0040075HP:0008245Pituitary hypothyroidism2RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040283 - Occasional1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2RFWD3 CL E G H5515925539OMIM:617784Fanconi anemia, complementation group W
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2RNPC3 CL E G H5559918666OMIM:618160Isolated growth hormone deficiency, type V
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000871Panhypopituitarism2SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000871Panhypopituitarism2SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000871Panhypopituitarism2SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000871Panhypopituitarism2SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000871Panhypopituitarism2SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional67
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SHH CL E G H646910848OMIM:147250Solitary median maxillary central incisor67
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040284 - Very rare104
HP:0040075HP:0040086Abnormal prolactin level2SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0040075HP:0008245Pituitary hypothyroidism2SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0040075HP:0040086Abnormal prolactin level2SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0040075HP:0008245Pituitary hypothyroidism2SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0040075HP:0000871Panhypopituitarism2SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional135
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0040075HP:0008245Pituitary hypothyroidism2SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0040075HP:0040086Abnormal prolactin level2SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0040075HP:0000871Panhypopituitarism2SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency.24
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SOX3 CL E G H665811199OMIM:300123Mental retardation, X-linked, with isolated growth hormone deficiency24
HP:0040075HP:0008245Pituitary hypothyroidism2SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0040075HP:0040086Abnormal prolactin level2SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0040075HP:0000871Panhypopituitarism2SOX3 CL E G H665811199OMIM:312000Panhypopituitarism, X-linked.24
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040281 - Very frequent24
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040283 - Occasional80
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000871Panhypopituitarism2STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000871Panhypopituitarism2STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0040075HP:0000871Panhypopituitarism2STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000871Panhypopituitarism2STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000871Panhypopituitarism2STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000871Panhypopituitarism2STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional99
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040284 - Very rare86
HP:0040075HP:0008245Pituitary hypothyroidism2SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0040075HP:0040086Abnormal prolactin level2SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0040075HP:0000871Panhypopituitarism2SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome52
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated.57
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000871Panhypopituitarism2TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000871Panhypopituitarism2TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000871Panhypopituitarism2TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000871Panhypopituitarism2TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0000871Panhypopituitarism2TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional1
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0040075HP:0040086Abnormal prolactin level2TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0040075HP:0008245Pituitary hypothyroidism2TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0040075HP:0000871Panhypopituitarism2TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000871Panhypopituitarism2TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional32
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0040075HP:0008245Pituitary hypothyroidism2TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome166
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040283 - Occasional140
HP:0040075HP:0040086Abnormal prolactin level2TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0040075HP:0008245Pituitary hypothyroidism2TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0040075HP:0008245Pituitary hypothyroidism2TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndromeHP:0040282 - Frequent2
HP:0040075HP:0040086Abnormal prolactin level2TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndrome2
HP:0040075HP:0008245Pituitary hypothyroidism2TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040281 - Very frequent9
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2VPS13B CL E G H1576802183OMIM:216550Cohen syndrome546
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2WASHC5 CL E G H989728984OMIM:220210Ritscher-Schinzel syndrome 183
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0040075HP:0000871Panhypopituitarism2ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000871Panhypopituitarism2ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000871Panhypopituitarism2ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000871Panhypopituitarism2ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000871Panhypopituitarism2ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040283 - Occasional34
HP:0040075HP:0000824Decreased response to growth hormone stimulation test2ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0040075HP:0011748Adrenocorticotropic hormone deficiency2ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0040075HP:0008240Secondary growth hormone deficiency3AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0040075HP:0008240Secondary growth hormone deficiency3AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0040075HP:0008202Reduced circulating prolactin concentration3AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0040075HP:0008202Reduced circulating prolactin concentration3BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0040075HP:0008240Secondary growth hormone deficiency3BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0040075HP:0008240Secondary growth hormone deficiency3CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0040075HP:0008240Secondary growth hormone deficiency3CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0040075HP:0008202Reduced circulating prolactin concentration3DBH CL E G H16212689OMIM:223360Dopamine beta-hydroxylase deficiency, congenital80
HP:0040075HP:0008240Secondary growth hormone deficiency3GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0040075HP:0008202Reduced circulating prolactin concentration3GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040284 - Very rare101
HP:0040075HP:0008202Reduced circulating prolactin concentration3GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040284 - Very rare101
HP:0040075HP:0008202Reduced circulating prolactin concentration3HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent21
HP:0040075HP:0008202Reduced circulating prolactin concentration3IGSF1 CL E G H35475948OMIM:300888Hypothyroidism, central, and testicular enlargement12
HP:0040075HP:0008202Reduced circulating prolactin concentration3LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent51
HP:0040075HP:0008202Reduced circulating prolactin concentration3LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent43
HP:0040075HP:0008240Secondary growth hormone deficiency3MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0040075HP:0008202Reduced circulating prolactin concentration3NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0040075HP:0008240Secondary growth hormone deficiency3NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0040075HP:0008240Secondary growth hormone deficiency3PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0040075HP:0008202Reduced circulating prolactin concentration3PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0040075HP:0008240Secondary growth hormone deficiency3PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0040075HP:0008202Reduced circulating prolactin concentration3PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0040075HP:0008202Reduced circulating prolactin concentration3POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent36
HP:0040075HP:0008202Reduced circulating prolactin concentration3POU1F1 CL E G H54499210OMIM:613038Pituitary hormone deficiency, combined, 136
HP:0040075HP:0033579Decreased growth hormone responses to growth hormone-releasing hormone challenge3PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0040075HP:0008202Reduced circulating prolactin concentration3PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040282 - Frequent54
HP:0040075HP:0008202Reduced circulating prolactin concentration3PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 2.54
HP:0040075HP:0008202Reduced circulating prolactin concentration3RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040283 - Occasional1
HP:0040075HP:0008240Secondary growth hormone deficiency3SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0040075HP:0008202Reduced circulating prolactin concentration3SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0040075HP:0008240Secondary growth hormone deficiency3SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0040075HP:0008202Reduced circulating prolactin concentration3SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0040075HP:0008240Secondary growth hormone deficiency3SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0040075HP:0008202Reduced circulating prolactin concentration3SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0040075HP:0008240Secondary growth hormone deficiency3SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0040075HP:0008202Reduced circulating prolactin concentration3SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0040075HP:0008240Secondary growth hormone deficiency3TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0040075HP:0008202Reduced circulating prolactin concentration3TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0040075HP:0008240Secondary growth hormone deficiency3TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0040075HP:0008202Reduced circulating prolactin concentration3TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0040075HP:0008202Reduced circulating prolactin concentration3TRHR CL E G H720112299ORPHA:99832Resistance to thyrotropin-releasing hormone syndromeHP:0040282 - Frequent2


Genes (181) :AAAS ACP5 ADAT3 ADNP AFF4 AIP AKT1 ALMS1 ALX3 ANOS1 APOA5 ARNT2 ATP8 B3GLCT BAP1 BMP4 BRAF BRCC3 BTK CCDC141 CDH23 CDKN1C CDKN2A CDON CEP57 CHD7 CTNNB1 CTSK DBH DCAF17 DCC DISP1 DLL1 DNAJC21 DUSP6 DYRK1A EDA EDA2R EFL1 EIF2S3 ESCO2 FANCF FANCI FARSA FEZF1 FGF17 FGF8 FGFR1 FLNB FLRT3 FOXA2 FOXH1 FSHB GAS1 GH1 GHRHR GHSR GLI2 GLI3 GMNN GMPPA GNAS GNB2 GPR101 GRB10 GRM7 H19-ICR HBB HERC2 HESX1 HID1 HS6ST1 IARS2 IGF2 IGSF1 IL17RD IPW KANSL1 KATNIP KIAA0753 KISS1R KMT2A LEP LEPR LHX3 LHX4 MADD MAGEL2 MAP2K2 MARS2 MEN1 MKRN3 MKRN3-AS1 MPDU1 NDN NDNF NF2 NFKB2 NKX2-1 NODAL NPAP1 OCA2 OTX2 PCSK1 PDE4D PDGFB PIK3CA PITX2 PLCH1 PNPLA6 POLE POLR3A POLR3GL POMC POU1F1 POU3F4 PREPL PRKAR1A PROK2 PROKR2 PROP1 PTCH1 PWAR1 PWRN1 RBM28 RFWD3 RNPC3 RRAS2 RRM2B SBDS SEMA3A SEMA3E SHH SIN3A SIX3 SLC29A3 SLC7A7 SMARCB1 SMARCE1 SMC1A SMO SNORD115-1 SNORD116-1 SNRPN SOX10 SOX3 SPRY4 SRD5A3 SRP54 STAG2 STAT5B STIL STX16 SUFU TACR3 TBCE TBCK TBX19 TBX2 TDGF1 TERT TGIF1 THOC2 TMCO1 TMEM67 TP53 TP63 TRAF7 TRAPPC11 TRHR TRNL1 TSHB VPS13B WASHC5 WDR11 WDR4 YY1 ZIC2 ZNF148 ZNRF3 ZSWIM6

Diseases (146) :ORPHA:869 ORPHA:1855 ORPHA:363528 OMIM:615286 OMIM:615873 ORPHA:444077 ORPHA:963 ORPHA:2965 ORPHA:2495 ORPHA:64 OMIM:203800 ORPHA:391474 ORPHA:478 OMIM:145750 OMIM:615926 ORPHA:480 ORPHA:709 OMIM:607932 ORPHA:54595 ORPHA:280679 OMIM:307200 ORPHA:91347 OMIM:614732 ORPHA:1501 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:614114 ORPHA:138 OMIM:214800 ORPHA:763 OMIM:223360 ORPHA:3464 ORPHA:811 ORPHA:268261 ORPHA:181 OMIM:300148 OMIM:216100 OMIM:603467 OMIM:609053 OMIM:619013 OMIM:615465 ORPHA:1263 ORPHA:95494 ORPHA:52901 OMIM:612781 OMIM:173100 OMIM:618157 OMIM:615925 OMIM:615849 OMIM:610829 OMIM:146510 ORPHA:672 OMIM:616835 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:619503 OMIM:300942 ORPHA:96182 OMIM:618922 OMIM:180860 ORPHA:231214 ORPHA:231226 OMIM:176270 ORPHA:226307 OMIM:182230 OMIM:619983 ORPHA:436174 OMIM:616007 OMIM:300888 ORPHA:363958 ORPHA:363965 OMIM:616784 OMIM:619476 OMIM:614837 ORPHA:319182 ORPHA:66628 OMIM:614963 ORPHA:179494 OMIM:221750 ORPHA:231720 OMIM:619004 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615280 OMIM:616430 ORPHA:79323 ORPHA:293978 OMIM:615577 OMIM:610978 ORPHA:71528 ORPHA:280651 OMIM:180500 OMIM:275400 OMIM:618336 ORPHA:3455 OMIM:619234 ORPHA:71526 OMIM:609734 OMIM:613038 ORPHA:1435 OMIM:616224 OMIM:101800 ORPHA:90695 OMIM:262600 OMIM:610828 ORPHA:157954 OMIM:617784 OMIM:618160 OMIM:618624 OMIM:147250 ORPHA:94065 OMIM:613406 OMIM:602782 ORPHA:470 OMIM:241800 ORPHA:177907 OMIM:300123 OMIM:312000 ORPHA:67045 ORPHA:324737 OMIM:245590 OMIM:241410 ORPHA:488632 OMIM:201400 OMIM:618223 ORPHA:457240 OMIM:213980 OMIM:602152 ORPHA:140976 OMIM:604292 ORPHA:1896 ORPHA:99832 ORPHA:90674 OMIM:216550 OMIM:220210 OMIM:618347 ORPHA:506358 OMIM:617260 OMIM:603671 ORPHA:1827
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.