Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormality of the adrenal glands (HP:0000834)

Parent Node:
Abnormality of adrenal physiology (HP:0011733)

..Starting node
..Adrenal overactivity (HP:0002717)

Term ID:

2717

Name:

Adrenal overactivity

Synonym:

Definition:

Comments:

Reference:

HP:0002717

Genes and Diseases:

Child Nodes:

........

Hyperaldosteronism (HP:0000859)

................... HP:0011736 Primary hyperaldosteronism
................... HP:0011741 Secondary hyperaldosteronism

........

Increased circulating cortisol level (HP:0003118)

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

Sister Nodes:

Adrenal insufficiency (HP:0000846)

Pseudohypoaldosteronism (HP:0008242)

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:0002717	HP:0002717	Adrenal overactivity	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1		92
HP:0002717	HP:0002717	Adrenal overactivity	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0002717	HP:0002717	Adrenal overactivity	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0002717	HP:0002717	Adrenal overactivity	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0002717	HP:0002717	Adrenal overactivity	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0002717	HP:0002717	Adrenal overactivity	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness		53
HP:0002717	HP:0002717	Adrenal overactivity	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		53
HP:0002717	HP:0002717	Adrenal overactivity	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0002717	HP:0002717	Adrenal overactivity	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0002717	HP:0002717	Adrenal overactivity	0	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0002717	HP:0002717	Adrenal overactivity	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0002717	HP:0002717	Adrenal overactivity	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0002717	HP:0002717	Adrenal overactivity	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0002717	HP:0002717	Adrenal overactivity	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0002717	HP:0002717	Adrenal overactivity	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma		289
HP:0002717	HP:0002717	Adrenal overactivity	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0002717	HP:0002717	Adrenal overactivity	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		9
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		9
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3		27
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness		27
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0002717	HP:0002717	Adrenal overactivity	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness		27
HP:0002717	HP:0002717	Adrenal overactivity	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma		88
HP:0002717	HP:0002717	Adrenal overactivity	0	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete		31
HP:0002717	HP:0002717	Adrenal overactivity	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0002717	HP:0002717	Adrenal overactivity	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0002717	HP:0002717	Adrenal overactivity	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism		112
HP:0002717	HP:0002717	Adrenal overactivity	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0002717	HP:0002717	Adrenal overactivity	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0002717	HP:0002717	Adrenal overactivity	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia		101
HP:0002717	HP:0002717	Adrenal overactivity	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0002717	HP:0002717	Adrenal overactivity	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0002717	HP:0002717	Adrenal overactivity	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0002717	HP:0002717	Adrenal overactivity	0	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent		2
HP:0002717	HP:0002717	Adrenal overactivity	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism		229
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2		51
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome		193
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome		128
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0002717	HP:0002717	Adrenal overactivity	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III		128
HP:0002717	HP:0002717	Adrenal overactivity	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1		462
HP:0002717	HP:0002717	Adrenal overactivity	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0002717	HP:0002717	Adrenal overactivity	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0002717	HP:0002717	Adrenal overactivity	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome		79
HP:0002717	HP:0002717	Adrenal overactivity	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant		109
HP:0002717	HP:0002717	Adrenal overactivity	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0002717	HP:0002717	Adrenal overactivity	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0002717	HP:0002717	Adrenal overactivity	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2		13
HP:0002717	HP:0002717	Adrenal overactivity	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0002717	HP:0002717	Adrenal overactivity	0	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3		75
HP:0002717	HP:0002717	Adrenal overactivity	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0002717	HP:0002717	Adrenal overactivity	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4		2
HP:0002717	HP:0002717	Adrenal overactivity	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0002717	HP:0002717	Adrenal overactivity	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma		134
HP:0002717	HP:0002717	Adrenal overactivity	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0002717	HP:0002717	Adrenal overactivity	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1		134
HP:0002717	HP:0002717	Adrenal overactivity	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0002717	HP:0002717	Adrenal overactivity	0	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA		572
HP:0002717	HP:0002717	Adrenal overactivity	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0002717	HP:0002717	Adrenal overactivity	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive		67
HP:0002717	HP:0002717	Adrenal overactivity	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0002717	HP:0002717	Adrenal overactivity	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0002717	HP:0002717	Adrenal overactivity	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal		75
HP:0002717	HP:0002717	Adrenal overactivity	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0002717	HP:0002717	Adrenal overactivity	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital		89
HP:0002717	HP:0002717	Adrenal overactivity	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma		238
HP:0002717	HP:0002717	Adrenal overactivity	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma		911
HP:0002717	HP:0002717	Adrenal overactivity	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0002717	HP:0002717	Adrenal overactivity	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0002717	HP:0002717	Adrenal overactivity	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0002717	HP:0002717	Adrenal overactivity	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma
HP:0002717	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:0002717	HP:0003118	Increased circulating cortisol level	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2		7
HP:0002717	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:0002717	HP:0000859	Hyperaldosteronism	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0002717	HP:0003118	Increased circulating cortisol level	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0002717	HP:0003118	Increased circulating cortisol level	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0002717	HP:0000859	Hyperaldosteronism	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0002717	HP:0000859	Hyperaldosteronism	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0002717	HP:0000859	Hyperaldosteronism	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0002717	HP:0000859	Hyperaldosteronism	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040280 - Obligate	51
HP:0002717	HP:0000859	Hyperaldosteronism	1	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0002717	HP:0003118	Increased circulating cortisol level	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0002717	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:0002717	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:0002717	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:0002717	HP:0000859	Hyperaldosteronism	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0002717	HP:0003118	Increased circulating cortisol level	1	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0002717	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:0002717	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:0002717	HP:0000859	Hyperaldosteronism	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0002717	HP:0000859	Hyperaldosteronism	1	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0002717	HP:0000859	Hyperaldosteronism	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0002717	HP:0000859	Hyperaldosteronism	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0002717	HP:0000859	Hyperaldosteronism	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0002717	HP:0000859	Hyperaldosteronism	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0002717	HP:0000859	Hyperaldosteronism	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0002717	HP:0000859	Hyperaldosteronism	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0002717	HP:0003118	Increased circulating cortisol level	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0002717	HP:0000859	Hyperaldosteronism	1	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0002717	HP:0000859	Hyperaldosteronism	1	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	.	31
HP:0002717	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:0002717	HP:0000859	Hyperaldosteronism	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0002717	HP:0000859	Hyperaldosteronism	1	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism	.	112
HP:0002717	HP:0003118	Increased circulating cortisol level	1	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism		73
HP:0002717	HP:0000859	Hyperaldosteronism	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0002717	HP:0003118	Increased circulating cortisol level	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0002717	HP:0000859	Hyperaldosteronism	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0002717	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:0002717	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:0002717	HP:0003118	Increased circulating cortisol level	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0002717	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:0002717	HP:0000859	Hyperaldosteronism	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0002717	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:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0002717	HP:0000859	Hyperaldosteronism	1	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	.	128
HP:0002717	HP:0003118	Increased circulating cortisol level	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0002717	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:0002717	HP:0003118	Increased circulating cortisol level	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0002717	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:0002717	HP:0000859	Hyperaldosteronism	1	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0002717	HP:0000859	Hyperaldosteronism	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent	13
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease		13
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PDE8B CL E G H	8622	8794	OMIM:614190	Pigmented nodular adrenocortical disease, primary, 3	.	75
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease		75
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease		2
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0002717	HP:0000859	Hyperaldosteronism	1	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent	134
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0002717	HP:0003118	Increased circulating cortisol level	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease		134
HP:0002717	HP:0003118	Increased circulating cortisol level	1	RET CL E G H	5979	9967	OMIM:171400	Multiple endocrine neoplasia, type IIA	.	572
HP:0002717	HP:0000859	Hyperaldosteronism	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0002717	HP:0000859	Hyperaldosteronism	1	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0002717	HP:0000859	Hyperaldosteronism	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0002717	HP:0000859	Hyperaldosteronism	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0002717	HP:0000859	Hyperaldosteronism	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0002717	HP:0000859	Hyperaldosteronism	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0002717	HP:0000859	Hyperaldosteronism	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0002717	HP:0003118	Increased circulating cortisol level	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0002717	HP:0000859	Hyperaldosteronism	1	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0002717	HP:0000859	Hyperaldosteronism	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0002717	HP:0003118	Increased circulating cortisol level	1	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0002717	HP:0003118	Increased circulating cortisol level	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0002717	HP:0003118	Increased circulating cortisol level	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0002717	HP:0003118	Increased circulating cortisol level	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0002717	HP:0003118	Increased circulating cortisol level	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0002717	HP:0000859	Hyperaldosteronism	1	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0002717	HP:0011744	Secondary hypercortisolism	2	CL E G H
HP:0002717	HP:0011741	Secondary hyperaldosteronism	2	CL E G H
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0002717	HP:0001579	Primary hypercortisolism	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002717	HP:0001579	Primary hypercortisolism	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002717	HP:0025436	Elevated serum 11-deoxycortisol	2	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0002717	HP:0001579	Primary hypercortisolism	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002717	HP:0001579	Primary hypercortisolism	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0002717	HP:0025436	Elevated serum 11-deoxycortisol	2	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0002717	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:0002717	HP:0011736	Primary hyperaldosteronism	2	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0002717	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:0002717	HP:0011736	Primary hyperaldosteronism	2	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0002717	HP:0001579	Primary hypercortisolism	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0002717	HP:0001579	Primary hypercortisolism	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare	101
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0002717	HP:0001579	Primary hypercortisolism	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002717	HP:0001579	Primary hypercortisolism	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0002717	HP:0001579	Primary hypercortisolism	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.	2
HP:0002717	HP:0025436	Elevated serum 11-deoxycortisol	2	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0002717	HP:0001579	Primary hypercortisolism	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0002717	HP:0011736	Primary hyperaldosteronism	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0002717	HP:0025436	Elevated serum 11-deoxycortisol	2	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0002717	HP:0025436	Elevated serum 11-deoxycortisol	2	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0002717	HP:0025436	Elevated serum 11-deoxycortisol	2	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0002717	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	3	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040281 - Very frequent	44
HP:0002717	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	3	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	112
HP:0002717	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	3	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	73
HP:0002717	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	3	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040281 - Very frequent	128
HP:0002717	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	3	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0002717	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	3	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0002717	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	3	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57

Genes (49) :AIRE ARMC5 ATRX BRAF BSND CACNA1D CACNA1H CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CLCN2 CLCNKA CLCNKB CTNNB1 CYP11A1 CYP11B1 CYP11B2 GNAS HTR1A INSR KCNJ1 KCNJ10 KCNJ11 KCNJ16 KCNJ2 KCNJ5 MEN1 NR3C1 NR3C2 OCRL PDE11A PDE8B PRKACA PRKAR1A RET SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3 TERT TP53 USP48 USP8 ZNRF3

Diseases (50) :ORPHA:3453 OMIM:615954 ORPHA:189427 ORPHA:96253 OMIM:602522 ORPHA:89938 OMIM:615474 ORPHA:369929 OMIM:617027 ORPHA:652 ORPHA:276152 ORPHA:1501 ORPHA:404 OMIM:605635 OMIM:613090 OMIM:607364 ORPHA:358 OMIM:613743 OMIM:202010 ORPHA:403 OMIM:103900 ORPHA:556030 OMIM:219080 ORPHA:562 OMIM:174800 OMIM:614674 ORPHA:508 OMIM:241200 ORPHA:199343 OMIM:612780 ORPHA:79644 OMIM:619406 ORPHA:37553 ORPHA:251274 OMIM:613677 OMIM:131100 ORPHA:786 OMIM:177735 ORPHA:534 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:614190 OMIM:615830 OMIM:610489 OMIM:171400 ORPHA:171876 OMIM:264350 OMIM:601678 OMIM:214700

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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