Human Phenotype Ontology 
Grandparent Node:
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Abnormality of reproductive system physiology (HP:0000080)help
Grandparent Node:
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Puberty and gonadal disorders (HP:0008373)help
Parent Node:
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Hypogonadism (HP:0000135)help
..Starting node
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Hypergonadotropic hypogonadism (HP:0000815)help
Term ID: 815
Name: Hypergonadotropic hypogonadism
Synonym: Hypergonadotrophic hypogonadism; Primary hypogonadism
Definition: Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Comments:
Reference: HP:0000815
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFemale hypogonadism (HP:0000134) help
..expandHypogonadotropic hypogonadism (HP:0000044) help
..expandMale hypogonadism (HP:0000026) 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:0000815HP:0000815Hypergonadotropic hypogonadism0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent5
HP:0000815HP:0000815Hypergonadotropic hypogonadism0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000815HP:0000815Hypergonadotropic hypogonadism0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000815HP:0000815Hypergonadotropic hypogonadism0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency.44
HP:0000815HP:0000815Hypergonadotropic hypogonadism0BMP15 CL E G H92101068OMIM:300510Ovarian dysgenesis 2.16
HP:0000815HP:0000815Hypergonadotropic hypogonadism0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0000815HP:0000815Hypergonadotropic hypogonadism0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0000815HP:0000815Hypergonadotropic hypogonadism0CLPP CL E G H81922084OMIM:614129Perrault syndrome 3.13
HP:0000815HP:0000815Hypergonadotropic hypogonadism0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0000815HP:0000815Hypergonadotropic hypogonadism0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000815HP:0000815Hypergonadotropic hypogonadism0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0000815HP:0000815Hypergonadotropic hypogonadism0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0000815HP:0000815Hypergonadotropic hypogonadism0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040281 - Very frequent60
HP:0000815HP:0000815Hypergonadotropic hypogonadism0CYP19A1 CL E G H15882594OMIM:613546Aromatase deficiency.60
HP:0000815HP:0000815Hypergonadotropic hypogonadism0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000815HP:0000815Hypergonadotropic hypogonadism0DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0000815HP:0000815Hypergonadotropic hypogonadism0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000815HP:0000815Hypergonadotropic hypogonadism0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0000815HP:0000815Hypergonadotropic hypogonadism0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0000815HP:0000815Hypergonadotropic hypogonadism0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0000815HP:0000815Hypergonadotropic hypogonadism0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0000815HP:0000815Hypergonadotropic hypogonadism0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000815HP:0000815Hypergonadotropic hypogonadism0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0000815HP:0000815Hypergonadotropic hypogonadism0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040283 - Occasional92
HP:0000815HP:0000815Hypergonadotropic hypogonadism0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0000815HP:0000815Hypergonadotropic hypogonadism0GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0000815HP:0000815Hypergonadotropic hypogonadism0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0000815HP:0000815Hypergonadotropic hypogonadism0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000815HP:0000815Hypergonadotropic hypogonadism0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0000815HP:0000815Hypergonadotropic hypogonadism0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040281 - Very frequent47
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency.46
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040281 - Very frequent46
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LHCGR CL E G H39736585OMIM:238320Hypergonadotropic hypogonadism.67
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHP:0040281 - Very frequent645
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LMNA CL E G H40006636OMIM:212112Malouf syndrome.645
HP:0000815HP:0000815Hypergonadotropic hypogonadism0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000815HP:0000815Hypergonadotropic hypogonadism0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000815HP:0000815Hypergonadotropic hypogonadism0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000815HP:0000815Hypergonadotropic hypogonadism0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040284 - Very rare11
HP:0000815HP:0000815Hypergonadotropic hypogonadism0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0000815HP:0000815Hypergonadotropic hypogonadism0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000815HP:0000815Hypergonadotropic hypogonadism0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000815HP:0000815Hypergonadotropic hypogonadism0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0000815HP:0000815Hypergonadotropic hypogonadism0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0000815HP:0000815Hypergonadotropic hypogonadism0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0000815HP:0000815Hypergonadotropic hypogonadism0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000815HP:0000815Hypergonadotropic hypogonadism0POLR1C CL E G H953320194ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent38
HP:0000815HP:0000815Hypergonadotropic hypogonadism0POLR3A CL E G H1112830074ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent138
HP:0000815HP:0000815Hypergonadotropic hypogonadism0POLR3B CL E G H5570330348ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent67
HP:0000815HP:0000815Hypergonadotropic hypogonadism0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000815HP:0000815Hypergonadotropic hypogonadism0RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0000815HP:0000815Hypergonadotropic hypogonadism0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040283 - Occasional43
HP:0000815HP:0000815Hypergonadotropic hypogonadism0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0000815HP:0000815Hypergonadotropic hypogonadism0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0000815HP:0000815Hypergonadotropic hypogonadism0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0000815HP:0000815Hypergonadotropic hypogonadism0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0000815HP:0000815Hypergonadotropic hypogonadism0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000815HP:0000815Hypergonadotropic hypogonadism0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000815HP:0000815Hypergonadotropic hypogonadism0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset62
HP:0000815HP:0000815Hypergonadotropic hypogonadism0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000815HP:0000815Hypergonadotropic hypogonadism0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0000815HP:0000815Hypergonadotropic hypogonadism0TWNK CL E G H566521160OMIM:616138Perrault syndrome 5.113
HP:0000815HP:0000815Hypergonadotropic hypogonadism0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0000815HP:0000815Hypergonadotropic hypogonadism0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000815HP:0000815Hypergonadotropic hypogonadism0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0000815HP:0000815Hypergonadotropic hypogonadism0WT1 CL E G H749012796ORPHA:347Frasier syndromeHP:0040281 - Very frequent177
HP:0000815HP:0000815Hypergonadotropic hypogonadism0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0000815HP:0000815Hypergonadotropic hypogonadism0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndromeHP:0040283 - Occasional17
HP:0000815HP:0000815Hypergonadotropic hypogonadism0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31


Genes (61) :AHSG ALMS1 AMACR BMP15 BMPR1B BRCC3 CLPP COQ2 CTDP1 CYB5A CYP17A1 CYP19A1 DCAF17 DHH DHX37 DMRT3 FANCA FANCB FANCC FANCD2 FANCE FOXL2 GALK1 GALT GATA4 GNAS ITGB6 LEP LEPR LHCGR LIG3 LMNA LSS MAP3K1 MGME1 MRE11 NR0B1 NR5A1 PMM2 POLA1 POLG POLR1C POLR3A POLR3B PRORP RIN2 RRM2B SAMD9 SCP2 SIL1 SLC29A3 SOX9 SQSTM1 SRY TWNK TYMP VAMP7 WT1 WWOX ZBTB20 ZFPM2

Diseases (52) :ORPHA:2850 ORPHA:64 OMIM:203800 OMIM:614307 OMIM:300510 OMIM:609441 ORPHA:280679 OMIM:614129 OMIM:607426 OMIM:604168 ORPHA:90796 ORPHA:91 OMIM:613546 OMIM:241080 OMIM:607080 ORPHA:251510 OMIM:227650 OMIM:300514 OMIM:227645 OMIM:227646 OMIM:600901 ORPHA:572333 ORPHA:79237 OMIM:230400 ORPHA:79443 ORPHA:79444 ORPHA:66628 OMIM:614963 ORPHA:179494 OMIM:238320 ORPHA:298 ORPHA:2229 OMIM:212112 OMIM:615084 ORPHA:352447 ORPHA:251347 OMIM:212065 ORPHA:163976 OMIM:157640 ORPHA:88637 OMIM:619737 OMIM:613075 ORPHA:217335 OMIM:617053 OMIM:613724 OMIM:248800 OMIM:602782 OMIM:617145 OMIM:271245 OMIM:616138 ORPHA:347 OMIM:259050
 

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