Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the adrenal glands (HP:0000834)help
Parent Node:
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Abnormality of adrenal physiology (HP:0011733)help
..Starting node
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Adrenal insufficiency (HP:0000846)help
Term ID: 846
Name: Adrenal insufficiency
Synonym: Hypoadrenalism
Definition: Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
Comments:
Reference: HP:0000846
Genes and Diseases:
 
       Child Nodes:
........expandPrimary adrenal insufficiency (HP:0008207) help
................... HP:0004319 Decreased circulating aldosterone level
................... HP:0008163 Decreased circulating cortisol level
........expandCentral adrenal insufficiency (HP:0011734) help
................... HP:0008259 Adrenocorticotropin receptor defect
................... HP:0011735 Adrenocorticotropin deficient adrenal insufficiency
................... HP:0011737 Corticotropin-releasing hormone deficient adrenal insufficiency
................... HP:0011738 Corticotropin-releasing hormone receptor defect

 Sister Nodes: 
..expandAdrenal overactivity (HP:0002717) help
..expandPseudohypoaldosteronism (HP:0008242) 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:0000846HP:0000846Adrenal insufficiency0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000846HP:0000846Adrenal insufficiency0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040281 - Very frequent57
HP:0000846HP:0000846Adrenal insufficiency0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0000846HP:0000846Adrenal insufficiency0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040283 - Occasional135
HP:0000846HP:0000846Adrenal insufficiency0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0000846HP:0000846Adrenal insufficiency0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0000846HP:0000846Adrenal insufficiency0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000846HP:0000846Adrenal insufficiency0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 192
HP:0000846HP:0000846Adrenal insufficiency0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000846HP:0000846Adrenal insufficiency0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000846HP:0000846Adrenal insufficiency0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2HP:0040283 - Occasional101
HP:0000846HP:0000846Adrenal insufficiency0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0000846HP:0000846Adrenal insufficiency0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0000846HP:0000846Adrenal insufficiency0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0000846HP:0000846Adrenal insufficiency0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0000846HP:0000846Adrenal insufficiency0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0000846HP:0000846Adrenal insufficiency0CYP11A1 CL E G H15832590OMIM:613743Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete.31
HP:0000846HP:0000846Adrenal insufficiency0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0000846HP:0000846Adrenal insufficiency0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000846HP:0000846Adrenal insufficiency0CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0000846HP:0000846Adrenal insufficiency0CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0000846HP:0000846Adrenal insufficiency0CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0000846HP:0000846Adrenal insufficiency0CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0000846HP:0000846Adrenal insufficiency0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0000846HP:0000846Adrenal insufficiency0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0000846HP:0000846Adrenal insufficiency0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional1
HP:0000846HP:0000846Adrenal insufficiency0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional87
HP:0000846HP:0000846Adrenal insufficiency0GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000846HP:0000846Adrenal insufficiency0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0000846HP:0000846Adrenal insufficiency0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency13
HP:0000846HP:0000846Adrenal insufficiency0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000846HP:0000846Adrenal insufficiency0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0000846HP:0000846Adrenal insufficiency0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040281 - Very frequent24
HP:0000846HP:0000846Adrenal insufficiency0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040284 - Very rare580
HP:0000846HP:0000846Adrenal insufficiency0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040284 - Very rare580
HP:0000846HP:0000846Adrenal insufficiency0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040284 - Very rare580
HP:0000846HP:0000846Adrenal insufficiency0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000846HP:0000846Adrenal insufficiency0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0000846HP:0000846Adrenal insufficiency0HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0000846HP:0000846Adrenal insufficiency0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000846HP:0000846Adrenal insufficiency0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0000846HP:0000846Adrenal insufficiency0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0000846HP:0000846Adrenal insufficiency0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000846HP:0000846Adrenal insufficiency0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000846HP:0000846Adrenal insufficiency0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000846HP:0000846Adrenal insufficiency0LHX4 CL E G H8988421734OMIM:262700Pituitary hormone deficiency, combined, 4.43
HP:0000846HP:0000846Adrenal insufficiency0LIPA CL E G H39886617OMIM:278000Lysosomal acid lipase deficiency73
HP:0000846HP:0000846Adrenal insufficiency0LIPA CL E G H39886617ORPHA:75233Wolman diseaseHP:0040283 - Occasional73
HP:0000846HP:0000846Adrenal insufficiency0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000846HP:0000846Adrenal insufficiency0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0000846HP:0000846Adrenal insufficiency0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0000846HP:0000846Adrenal insufficiency0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0000846HP:0000846Adrenal insufficiency0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional13
HP:0000846HP:0000846Adrenal insufficiency0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate94
HP:0000846HP:0000846Adrenal insufficiency0MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 194
HP:0000846HP:0000846Adrenal insufficiency0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0000846HP:0000846Adrenal insufficiency0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0000846HP:0000846Adrenal insufficiency0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000846HP:0000846Adrenal insufficiency0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000846HP:0000846Adrenal insufficiency0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate26
HP:0000846HP:0000846Adrenal insufficiency0MRAP CL E G H562461304OMIM:607398Glucocorticoid deficiency 226
HP:0000846HP:0000846Adrenal insufficiency0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0000846HP:0000846Adrenal insufficiency0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 3412
HP:0000846HP:0000846Adrenal insufficiency0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000846HP:0000846Adrenal insufficiency0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000846HP:0000846Adrenal insufficiency0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000846HP:0000846Adrenal insufficiency0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0000846HP:0000846Adrenal insufficiency0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000846HP:0000846Adrenal insufficiency0NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0000846HP:0000846Adrenal insufficiency0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000846HP:0000846Adrenal insufficiency0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0000846HP:0000846Adrenal insufficiency0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate13
HP:0000846HP:0000846Adrenal insufficiency0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000846HP:0000846Adrenal insufficiency0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional48
HP:0000846HP:0000846Adrenal insufficiency0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000846HP:0000846Adrenal insufficiency0NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndrome79
HP:0000846HP:0000846Adrenal insufficiency0NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy109
HP:0000846HP:0000846Adrenal insufficiency0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional38
HP:0000846HP:0000846Adrenal insufficiency0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0000846HP:0000846Adrenal insufficiency0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0000846HP:0000846Adrenal insufficiency0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0000846HP:0000846Adrenal insufficiency0PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiency65
HP:0000846HP:0000846Adrenal insufficiency0PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency65
HP:0000846HP:0000846Adrenal insufficiency0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000846HP:0000846Adrenal insufficiency0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophy169
HP:0000846HP:0000846Adrenal insufficiency0PEX1 CL E G H51898850ORPHA:912Zellweger syndrome169
HP:0000846HP:0000846Adrenal insufficiency0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophy75
HP:0000846HP:0000846Adrenal insufficiency0PEX10 CL E G H51928851ORPHA:912Zellweger syndrome75
HP:0000846HP:0000846Adrenal insufficiency0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophy4
HP:0000846HP:0000846Adrenal insufficiency0PEX11B CL E G H87998853ORPHA:912Zellweger syndrome4
HP:0000846HP:0000846Adrenal insufficiency0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophy65
HP:0000846HP:0000846Adrenal insufficiency0PEX12 CL E G H51938854ORPHA:912Zellweger syndrome65
HP:0000846HP:0000846Adrenal insufficiency0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophy66
HP:0000846HP:0000846Adrenal insufficiency0PEX13 CL E G H51948855ORPHA:912Zellweger syndrome66
HP:0000846HP:0000846Adrenal insufficiency0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophy46
HP:0000846HP:0000846Adrenal insufficiency0PEX14 CL E G H51958856ORPHA:912Zellweger syndrome46
HP:0000846HP:0000846Adrenal insufficiency0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophy59
HP:0000846HP:0000846Adrenal insufficiency0PEX16 CL E G H94098857ORPHA:912Zellweger syndrome59
HP:0000846HP:0000846Adrenal insufficiency0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophy62
HP:0000846HP:0000846Adrenal insufficiency0PEX19 CL E G H58249713ORPHA:912Zellweger syndrome62
HP:0000846HP:0000846Adrenal insufficiency0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophy82
HP:0000846HP:0000846Adrenal insufficiency0PEX2 CL E G H58289717ORPHA:912Zellweger syndrome82
HP:0000846HP:0000846Adrenal insufficiency0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophy106
HP:0000846HP:0000846Adrenal insufficiency0PEX26 CL E G H5567022965ORPHA:912Zellweger syndrome106
HP:0000846HP:0000846Adrenal insufficiency0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophy47
HP:0000846HP:0000846Adrenal insufficiency0PEX3 CL E G H85048858ORPHA:912Zellweger syndrome47
HP:0000846HP:0000846Adrenal insufficiency0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophy99
HP:0000846HP:0000846Adrenal insufficiency0PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0000846HP:0000846Adrenal insufficiency0PEX5 CL E G H58309719ORPHA:912Zellweger syndrome99
HP:0000846HP:0000846Adrenal insufficiency0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophy98
HP:0000846HP:0000846Adrenal insufficiency0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0000846HP:0000846Adrenal insufficiency0PEX6 CL E G H51908859ORPHA:912Zellweger syndrome98
HP:0000846HP:0000846Adrenal insufficiency0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000846HP:0000846Adrenal insufficiency0POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiency27
HP:0000846HP:0000846Adrenal insufficiency0POMC CL E G H54439201OMIM:609734Obesity, early-onset, with adrenal insufficiency and red hair.27
HP:0000846HP:0000846Adrenal insufficiency0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000846HP:0000846Adrenal insufficiency0PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 2.54
HP:0000846HP:0000846Adrenal insufficiency0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000846HP:0000846Adrenal insufficiency0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000846HP:0000846Adrenal insufficiency0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000846HP:0000846Adrenal insufficiency0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0000846HP:0000846Adrenal insufficiency0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0000846HP:0000846Adrenal insufficiency0SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040284 - Very rare2
HP:0000846HP:0000846Adrenal insufficiency0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0000846HP:0000846Adrenal insufficiency0SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 161
HP:0000846HP:0000846Adrenal insufficiency0SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0000846HP:0000846Adrenal insufficiency0SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency4
HP:0000846HP:0000846Adrenal insufficiency0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000846HP:0000846Adrenal insufficiency0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000846HP:0000846Adrenal insufficiency0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000846HP:0000846Adrenal insufficiency0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000846HP:0000846Adrenal insufficiency0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000846HP:0000846Adrenal insufficiency0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000846HP:0000846Adrenal insufficiency0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0000846HP:0000846Adrenal insufficiency0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0000846HP:0000846Adrenal insufficiency0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0000846HP:0000846Adrenal insufficiency0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional109
HP:0000846HP:0000846Adrenal insufficiency0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional23
HP:0000846HP:0000846Adrenal insufficiency0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate45
HP:0000846HP:0000846Adrenal insufficiency0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblastsHP:0040283 - Occasional1
HP:0000846HP:0000846Adrenal insufficiency0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000846HP:0000846Adrenal insufficiency0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000846HP:0000846Adrenal insufficiency0TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated57
HP:0000846HP:0000846Adrenal insufficiency0TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiency57
HP:0000846HP:0000846Adrenal insufficiency0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0000846HP:0000846Adrenal insufficiency0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000846HP:0000846Adrenal insufficiency0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000846HP:0000846Adrenal insufficiency0TRAPPC11 CL E G H6068425751ORPHA:869Triple A syndromeHP:0040281 - Very frequent27
HP:0000846HP:0000846Adrenal insufficiency0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate85
HP:0000846HP:0000846Adrenal insufficiency0TXNRD2 CL E G H1058718155OMIM:617825GLUCOCORTICOID DEFICIENCY 5; GCCD585
HP:0000846HP:0000846Adrenal insufficiency0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional2
HP:0000846HP:0000846Adrenal insufficiency0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional177
HP:0000846HP:0000846Adrenal insufficiency0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional149
HP:0000846HP:0000846Adrenal insufficiency0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040283 - Occasional31
HP:0000846HP:0011734Central adrenal insufficiency1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000846HP:0008207Primary adrenal insufficiency1AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome57
HP:0000846HP:0008207Primary adrenal insufficiency1ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0000846HP:0008207Primary adrenal insufficiency1ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040283 - Occasional135
HP:0000846HP:0008207Primary adrenal insufficiency1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040281 - Very frequent135
HP:0000846HP:0011734Central adrenal insufficiency1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0000846HP:0008207Primary adrenal insufficiency1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000846HP:0008207Primary adrenal insufficiency1AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040281 - Very frequent92
HP:0000846HP:0008207Primary adrenal insufficiency1AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000846HP:0008207Primary adrenal insufficiency1BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000846HP:0011734Central adrenal insufficiency1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0000846HP:0011734Central adrenal insufficiency1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0000846HP:0011734Central adrenal insufficiency1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000846HP:0011734Central adrenal insufficiency1CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0000846HP:0008207Primary adrenal insufficiency1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000846HP:0008207Primary adrenal insufficiency1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000846HP:0008207Primary adrenal insufficiency1CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000846HP:0008207Primary adrenal insufficiency1CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency112
HP:0000846HP:0008207Primary adrenal insufficiency1CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency73
HP:0000846HP:0008207Primary adrenal insufficiency1CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronism73
HP:0000846HP:0008207Primary adrenal insufficiency1CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0000846HP:0008207Primary adrenal insufficiency1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040283 - Occasional53
HP:0000846HP:0008207Primary adrenal insufficiency1GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000846HP:0008207Primary adrenal insufficiency1GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0000846HP:0011734Central adrenal insufficiency1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0000846HP:0008207Primary adrenal insufficiency1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000846HP:0008207Primary adrenal insufficiency1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000846HP:0008207Primary adrenal insufficiency1HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess14
HP:0000846HP:0008207Primary adrenal insufficiency1HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excess14
HP:0000846HP:0008207Primary adrenal insufficiency1HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000846HP:0008207Primary adrenal insufficiency1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0000846HP:0011734Central adrenal insufficiency1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000846HP:0008207Primary adrenal insufficiency1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000846HP:0008207Primary adrenal insufficiency1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000846HP:0011734Central adrenal insufficiency1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0000846HP:0011734Central adrenal insufficiency1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0000846HP:0011734Central adrenal insufficiency1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0000846HP:0008207Primary adrenal insufficiency1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0000846HP:0008207Primary adrenal insufficiency1MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 194
HP:0000846HP:0011734Central adrenal insufficiency1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0000846HP:0008207Primary adrenal insufficiency1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0000846HP:0008207Primary adrenal insufficiency1MRAP CL E G H562461304OMIM:607398Glucocorticoid deficiency 226
HP:0000846HP:0008207Primary adrenal insufficiency1MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0000846HP:0011734Central adrenal insufficiency1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0000846HP:0011734Central adrenal insufficiency1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0000846HP:0011734Central adrenal insufficiency1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0000846HP:0008207Primary adrenal insufficiency1NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000846HP:0011734Central adrenal insufficiency1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0000846HP:0008207Primary adrenal insufficiency1NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome11
HP:0000846HP:0011734Central adrenal insufficiency1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0000846HP:0008207Primary adrenal insufficiency1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0000846HP:0008207Primary adrenal insufficiency1NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000846HP:0008207Primary adrenal insufficiency1NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndrome79
HP:0000846HP:0008207Primary adrenal insufficiency1NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy109
HP:0000846HP:0011734Central adrenal insufficiency1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0000846HP:0011734Central adrenal insufficiency1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0000846HP:0011734Central adrenal insufficiency1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0000846HP:0011734Central adrenal insufficiency1PCSK1 CL E G H51228743ORPHA:71528Obesity due to prohormone convertase I deficiencyHP:0040282 - Frequent65
HP:0000846HP:0008207Primary adrenal insufficiency1PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency65
HP:0000846HP:0008207Primary adrenal insufficiency1PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000846HP:0008207Primary adrenal insufficiency1PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0000846HP:0008207Primary adrenal insufficiency1PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040283 - Occasional169
HP:0000846HP:0008207Primary adrenal insufficiency1PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0000846HP:0008207Primary adrenal insufficiency1PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040283 - Occasional75
HP:0000846HP:0008207Primary adrenal insufficiency1PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0000846HP:0008207Primary adrenal insufficiency1PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040283 - Occasional4
HP:0000846HP:0008207Primary adrenal insufficiency1PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0000846HP:0008207Primary adrenal insufficiency1PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040283 - Occasional65
HP:0000846HP:0008207Primary adrenal insufficiency1PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0000846HP:0008207Primary adrenal insufficiency1PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040283 - Occasional66
HP:0000846HP:0008207Primary adrenal insufficiency1PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0000846HP:0008207Primary adrenal insufficiency1PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040283 - Occasional46
HP:0000846HP:0008207Primary adrenal insufficiency1PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0000846HP:0008207Primary adrenal insufficiency1PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040283 - Occasional59
HP:0000846HP:0008207Primary adrenal insufficiency1PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0000846HP:0008207Primary adrenal insufficiency1PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040283 - Occasional62
HP:0000846HP:0008207Primary adrenal insufficiency1PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0000846HP:0008207Primary adrenal insufficiency1PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040283 - Occasional82
HP:0000846HP:0008207Primary adrenal insufficiency1PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0000846HP:0008207Primary adrenal insufficiency1PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040283 - Occasional106
HP:0000846HP:0008207Primary adrenal insufficiency1PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0000846HP:0008207Primary adrenal insufficiency1PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040283 - Occasional47
HP:0000846HP:0008207Primary adrenal insufficiency1PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0000846HP:0008207Primary adrenal insufficiency1PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040283 - Occasional99
HP:0000846HP:0008207Primary adrenal insufficiency1PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0000846HP:0008207Primary adrenal insufficiency1PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040283 - Occasional98
HP:0000846HP:0008207Primary adrenal insufficiency1PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000846HP:0011734Central adrenal insufficiency1POMC CL E G H54439201ORPHA:71526Obesity due to pro-opiomelanocortin deficiencyHP:0040282 - Frequent27
HP:0000846HP:0008207Primary adrenal insufficiency1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0000846HP:0008207Primary adrenal insufficiency1QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000846HP:0011734Central adrenal insufficiency1RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0000846HP:0011734Central adrenal insufficiency1RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0000846HP:0008207Primary adrenal insufficiency1SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 161
HP:0000846HP:0008207Primary adrenal insufficiency1SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0000846HP:0008207Primary adrenal insufficiency1SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency4
HP:0000846HP:0008207Primary adrenal insufficiency1SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000846HP:0008207Primary adrenal insufficiency1SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000846HP:0008207Primary adrenal insufficiency1SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000846HP:0011734Central adrenal insufficiency1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0000846HP:0011734Central adrenal insufficiency1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0000846HP:0011734Central adrenal insufficiency1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0000846HP:0008207Primary adrenal insufficiency1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0000846HP:0008207Primary adrenal insufficiency1SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000846HP:0011734Central adrenal insufficiency1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000846HP:0008207Primary adrenal insufficiency1TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated57
HP:0000846HP:0011734Central adrenal insufficiency1TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiency57
HP:0000846HP:0008207Primary adrenal insufficiency1TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiency57
HP:0000846HP:0008207Primary adrenal insufficiency1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040283 - Occasional31
HP:0000846HP:0008207Primary adrenal insufficiency1TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000846HP:0008207Primary adrenal insufficiency1TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000846HP:0008207Primary adrenal insufficiency1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0000846HP:0008207Primary adrenal insufficiency1TXNRD2 CL E G H1058718155OMIM:617825GLUCOCORTICOID DEFICIENCY 5; GCCD585
HP:0000846HP:0011738Corticotropin-releasing hormone receptor defect2 CL E G H
HP:0000846HP:0011737Corticotropin-releasing hormone deficient adrenal insufficiency2 CL E G H
HP:0000846HP:0008259Adrenocorticotropin receptor defect2AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000846HP:0004319Decreased circulating aldosterone level2AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000846HP:0008163Decreased circulating cortisol level2AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000846HP:0008163Decreased circulating cortisol level2ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040281 - Very frequent135
HP:0000846HP:0011735Adrenocorticotropin deficient adrenal insufficiency2AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0000846HP:0004319Decreased circulating aldosterone level2AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000846HP:0004319Decreased circulating aldosterone level2AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040281 - Very frequent92
HP:0000846HP:0008163Decreased circulating cortisol level2AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0000846HP:0008163Decreased circulating cortisol level2BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0000846HP:0011735Adrenocorticotropin deficient adrenal insufficiency2CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0000846HP:0011735Adrenocorticotropin deficient adrenal insufficiency2CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000846HP:0008163Decreased circulating cortisol level2CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000846HP:0004319Decreased circulating aldosterone level2CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000846HP:0004319Decreased circulating aldosterone level2CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000846HP:0008163Decreased circulating cortisol level2CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000846HP:0004319Decreased circulating aldosterone level2CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0000846HP:0008163Decreased circulating cortisol level2CYP11B1 CL E G H15842591ORPHA:90795Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiencyHP:0040281 - Very frequent112
HP:0000846HP:0004319Decreased circulating aldosterone level2CYP11B2 CL E G H15852592OMIM:203400Corticosterone methyloxidase type I deficiency.73
HP:0000846HP:0004319Decreased circulating aldosterone level2CYP11B2 CL E G H15852592ORPHA:556030Early-onset familial hypoaldosteronismHP:0040282 - Frequent73
HP:0000846HP:0004319Decreased circulating aldosterone level2CYP11B2 CL E G H15852592OMIM:610600Hypoaldosteronism, congenital, due to CMO II deficiency73
HP:0000846HP:0004319Decreased circulating aldosterone level2CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0000846HP:0008163Decreased circulating cortisol level2CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0000846HP:0008163Decreased circulating cortisol level2GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0000846HP:0008163Decreased circulating cortisol level2GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0000846HP:0008163Decreased circulating cortisol level2GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0000846HP:0004319Decreased circulating aldosterone level2HSD11B2 CL E G H32915209OMIM:218030Apparent mineralocorticoid excess.14
HP:0000846HP:0004319Decreased circulating aldosterone level2HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040282 - Frequent14
HP:0000846HP:0004319Decreased circulating aldosterone level2HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0000846HP:0008163Decreased circulating cortisol level2HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040282 - Frequent34
HP:0000846HP:0008163Decreased circulating cortisol level2MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate94
HP:0000846HP:0004319Decreased circulating aldosterone level2MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional94
HP:0000846HP:0008163Decreased circulating cortisol level2MC2R CL E G H41586930OMIM:202200Glucocorticoid deficiency 1.94
HP:0000846HP:0011735Adrenocorticotropin deficient adrenal insufficiency2MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0000846HP:0004319Decreased circulating aldosterone level2MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional26
HP:0000846HP:0008163Decreased circulating cortisol level2MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate26
HP:0000846HP:0008163Decreased circulating cortisol level2MRAP CL E G H562461304OMIM:607398Glucocorticoid deficiency 2.26
HP:0000846HP:0008163Decreased circulating cortisol level2NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0000846HP:0011735Adrenocorticotropin deficient adrenal insufficiency2NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0000846HP:0008163Decreased circulating cortisol level2NFKB2 CL E G H47917795ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndromeHP:0040281 - Very frequent11
HP:0000846HP:0004319Decreased circulating aldosterone level2NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional13
HP:0000846HP:0008163Decreased circulating cortisol level2NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate13
HP:0000846HP:0008163Decreased circulating cortisol level2NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000846HP:0004319Decreased circulating aldosterone level2NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000846HP:0004319Decreased circulating aldosterone level2NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndromeHP:0040281 - Very frequent79
HP:0000846HP:0004319Decreased circulating aldosterone level2NR3C2 CL E G H43067979OMIM:605115Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy.109
HP:0000846HP:0008163Decreased circulating cortisol level2PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency.65
HP:0000846HP:0008163Decreased circulating cortisol level2PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0000846HP:0008163Decreased circulating cortisol level2PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0000846HP:0008163Decreased circulating cortisol level2POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040282 - Frequent76
HP:0000846HP:0008163Decreased circulating cortisol level2QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0000846HP:0011735Adrenocorticotropin deficient adrenal insufficiency2RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0000846HP:0004319Decreased circulating aldosterone level2SCNN1B CL E G H633810600OMIM:177200Liddle syndrome 1.61
HP:0000846HP:0004319Decreased circulating aldosterone level2SCNN1G CL E G H634010602OMIM:618114Liddle syndrome 257
HP:0000846HP:0008163Decreased circulating cortisol level2SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency4
HP:0000846HP:0008163Decreased circulating cortisol level2SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0000846HP:0008163Decreased circulating cortisol level2SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0000846HP:0008163Decreased circulating cortisol level2SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0000846HP:0004319Decreased circulating aldosterone level2STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional45
HP:0000846HP:0008163Decreased circulating cortisol level2STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate45
HP:0000846HP:0008163Decreased circulating cortisol level2SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0000846HP:0008163Decreased circulating cortisol level2TBX19 CL E G H909511596OMIM:201400Acth deficiency, isolated.57
HP:0000846HP:0008163Decreased circulating cortisol level2TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiencyHP:0040280 - Obligate57
HP:0000846HP:0011735Adrenocorticotropin deficient adrenal insufficiency2TBX19 CL E G H909511596ORPHA:199296Congenital isolated ACTH deficiencyHP:0040280 - Obligate57
HP:0000846HP:0008163Decreased circulating cortisol level2TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0000846HP:0008163Decreased circulating cortisol level2TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0000846HP:0004319Decreased circulating aldosterone level2TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional85
HP:0000846HP:0008163Decreased circulating cortisol level2TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040280 - Obligate85
HP:0000846HP:0008163Decreased circulating cortisol level2TXNRD2 CL E G H1058718155OMIM:617825GLUCOCORTICOID DEFICIENCY 5; GCCD585


Genes (105) :AAAS ABCD1 AIP AIRE AKT1 BAP1 BCOR BRAF CDH23 CTNNB1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 DHX37 DMRT3 GATA4 GATB GATC GK GLI3 GMPPA HBB HERC2 HSD11B2 HSD17B4 HSD3B2 IARS2 IPW KANSL1 LHX4 LIPA MAGEL2 MAP3K1 MC2R MCM4 MEN1 MKRN3 MKRN3-AS1 MRAP MRPS25 MRPS7 NDN NDUFAF5 NF2 NFKB2 NFS1 NNT NPAP1 NR0B1 NR3C1 NR3C2 NR5A1 OCA2 PCSK1 PDGFB PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PIK3CA POMC POR PROP1 PWAR1 PWRN1 QRSL1 RBM28 SAA1 SAMD9 SCNN1B SCNN1G SERPINA6 SGPL1 SMARCB1 SMARCE1 SMO SNORD115-1 SNORD116-1 SNRPN SOX9 SRY STAR STEAP3 SUFU TBCK TBX19 TCTN3 TERT TRAF7 TRAPPC11 TXNRD2 VAMP7 WT1 WWOX ZFPM2

Diseases (82) :OMIM:231550 ORPHA:869 OMIM:300100 ORPHA:139399 ORPHA:139396 ORPHA:2965 OMIM:240300 ORPHA:3453 ORPHA:2495 OMIM:300166 ORPHA:54595 ORPHA:91347 ORPHA:168558 OMIM:613743 ORPHA:289548 OMIM:202010 ORPHA:90795 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 ORPHA:251510 OMIM:618838 OMIM:618839 OMIM:307030 OMIM:146510 ORPHA:672 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:176270 ORPHA:320 OMIM:218030 OMIM:261515 ORPHA:90791 OMIM:616007 ORPHA:363958 ORPHA:363965 OMIM:262700 OMIM:278000 ORPHA:75233 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:361 OMIM:202200 OMIM:609981 OMIM:607398 OMIM:619025 OMIM:617872 OMIM:618238 ORPHA:293978 OMIM:615577 OMIM:619386 OMIM:300200 ORPHA:786 OMIM:605115 ORPHA:71528 OMIM:600955 ORPHA:44 ORPHA:912 OMIM:202370 OMIM:614863 ORPHA:71526 OMIM:609734 ORPHA:95699 OMIM:262600 OMIM:618835 OMIM:612079 ORPHA:157954 ORPHA:85445 OMIM:617053 OMIM:177200 OMIM:618114 OMIM:611489 OMIM:617575 ORPHA:300298 ORPHA:488632 OMIM:201400 ORPHA:199296 ORPHA:2753 OMIM:617825
 

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