Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormality of circulating glucocorticoid level (HP:0012111)

..Starting node
..Abnormality of circulating cortisol level (HP:0011731)

Term ID:

11731

Name:

Abnormality of circulating cortisol level

Synonym:

Definition:

An abnormality of the concentration of cortisol in the blood.

Comments:

Reference:

HP:0011731

Genes and Diseases:

Child Nodes:

........

Increased circulating cortisol level (HP:0003118)

................... HP:0001579 Primary hypercorticolism
................... HP:0011744 Secondary hypercorticolism
................... HP:0025436 Elevated serum 11-deoxycortisol

........

Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)

........

Decreased circulating cortisol level (HP:0008163)

Sister Nodes:

Abnormal circulating corticosterone level (HP:0012112)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome		57
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1		92
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency		31
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency		31
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency		112
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency		53
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent	14
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency		34
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent		2
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1		94
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2		26
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome		11
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital		48
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency		65
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3		75
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4		2
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated		57
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency		57
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011731	HP:0011731	Abnormality of circulating cortisol level	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040281 - Very frequent	135
HP:0011731	HP:0003118	Increased circulating cortisol level	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent	54
HP:0011731	HP:0003118	Increased circulating cortisol level	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0011731	HP:0003118	Increased circulating cortisol level	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0011731	HP:0003118	Increased circulating cortisol level	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent	184
HP:0011731	HP:0003118	Increased circulating cortisol level	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040281 - Very frequent	112
HP:0011731	HP:0003118	Increased circulating cortisol level	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0011731	HP:0003118	Increased circulating cortisol level	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0011731	HP:0003118	Increased circulating cortisol level	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0011731	HP:0003118	Increased circulating cortisol level	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0011731	HP:0003118	Increased circulating cortisol level	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0011731	HP:0003118	Increased circulating cortisol level	1	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent	HP:0040283 - Occasional	2
HP:0011731	HP:0003118	Increased circulating cortisol level	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	94
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	MC2R CL E G H	4158	6930	OMIM:202200	Glucocorticoid deficiency 1	.	94
HP:0011731	HP:0003118	Increased circulating cortisol level	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0011731	HP:0003118	Increased circulating cortisol level	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	26
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	MRAP CL E G H	56246	1304	OMIM:607398	Glucocorticoid deficiency 2	.	26
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent	220
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040281 - Very frequent	11
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	13
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0011731	HP:0003118	Increased circulating cortisol level	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0011731	HP:0003118	Increased circulating cortisol level	1	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3	.	75
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent	9
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent	162
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040282 - Frequent	76
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0011731	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011731	HP:0003118	Increased circulating cortisol level	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	SERPINA6 CL E G H	866	1540	OMIM:611489	Corticosteroid-binding globulin deficiency		4
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent	87
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent	47
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent	22
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	45
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent	124
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.	57
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040280 - Obligate	57
HP:0011731	HP:0003118	Increased circulating cortisol level	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent	238
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0011731	HP:0003118	Increased circulating cortisol level	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011731	HP:0003118	Increased circulating cortisol level	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040280 - Obligate	85
HP:0011731	HP:0008163	Decreased circulating cortisol level	1	TXNRD2 CL E G H	10587	18155	OMIM:617825	GLUCOCORTICOID DEFICIENCY 5; GCCD5		85
HP:0011731	HP:0003118	Increased circulating cortisol level	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0011731	HP:0003118	Increased circulating cortisol level	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0011731	HP:0003118	Increased circulating cortisol level	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0011731	HP:0003466	Paradoxical increased cortisol secretion on dexamethasone suppression test	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0011731	HP:0011744	Secondary hypercortisolism	2	CL E G H
HP:0011731	HP:0001579	Primary hypercortisolism	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0011731	HP:0001579	Primary hypercortisolism	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0011731	HP:0001579	Primary hypercortisolism	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0011731	HP:0001579	Primary hypercortisolism	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0011731	HP:0001579	Primary hypercortisolism	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0011731	HP:0001579	Primary hypercortisolism	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0011731	HP:0001579	Primary hypercortisolism	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0011731	HP:0001579	Primary hypercortisolism	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0011731	HP:0001579	Primary hypercortisolism	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0011731	HP:0001579	Primary hypercortisolism	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0011731	HP:0025436	Elevated serum 11-deoxycortisol	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent

Genes (59) :AAAS ABCD1 AIRE AKT1 ARMC5 ATRX BAP1 BRAF CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CTNNB1 CYP11A1 CYP11B1 CYP11B2 CYP17A1 GATB GATC GLI3 GNAS HSD11B2 HSD3B2 HTR1A KCNJ11 MC2R MEN1 MRAP NF2 NFKB2 NNT NR0B1 NR3C1 PCSK1 PDE11A PDE8B PDGFB PIK3CA POR PRKACA PRKAR1A QRSL1 RET SERPINA6 SMARCB1 SMARCE1 SMO STAR SUFU TBX19 TERT TP53 TRAF7 TXNRD2 USP48 USP8 ZNRF3

Diseases (47) :OMIM:231550 ORPHA:139396 ORPHA:3453 ORPHA:2495 OMIM:615954 ORPHA:189427 ORPHA:96253 ORPHA:652 ORPHA:276152 ORPHA:1501 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:90795 ORPHA:556030 ORPHA:90793 OMIM:618838 OMIM:618839 OMIM:146510 OMIM:219080 ORPHA:562 OMIM:174800 ORPHA:320 ORPHA:90791 OMIM:614674 ORPHA:79644 ORPHA:361 OMIM:202200 OMIM:131100 OMIM:607398 ORPHA:293978 OMIM:300200 ORPHA:786 OMIM:600955 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:614190 ORPHA:95699 OMIM:615830 OMIM:610489 OMIM:618835 OMIM:171400 OMIM:611489 OMIM:201400 ORPHA:199296 OMIM:617825

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

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