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:
Abnormality of adrenal physiology (HP:0011733)

Parent Node:
Adrenal overactivity (HP:0002717)

..Starting node
..Hyperaldosteronism (HP:0000859)

Term ID:

859

Name:

Hyperaldosteronism

Synonym:

Elevated plasma aldosterone; Increased aldosterone; Increased aldosterone production; Mineralocorticoid excess

Definition:

Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.

Comments:

Reference:

HP:0000859

Genes and Diseases:

Child Nodes:

........

Primary hyperaldosteronism (HP:0011736)

................... HP:0011739 Dexamethasone-suppresible primary hyperaldosteronism
................... HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism

........

Secondary hyperaldosteronism (HP:0011741)

Sister Nodes:

Increased circulating cortisol level (HP:0003118)

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:0000859	HP:0000859	Hyperaldosteronism	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0000859	HP:0000859	Hyperaldosteronism	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0000859	HP:0000859	Hyperaldosteronism	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0000859	HP:0000859	Hyperaldosteronism	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0000859	HP:0000859	Hyperaldosteronism	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040280 - Obligate	51
HP:0000859	HP:0000859	Hyperaldosteronism	0	CACNA1H CL E G H	8912	1395	OMIM:617027	Hyperaldosteronism, familial, type IV		75
HP:0000859	HP:0000859	Hyperaldosteronism	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCN2 CL E G H	1181	2020	OMIM:605635	Hyperaldosteronism, familial, type II		44
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0000859	HP:0000859	Hyperaldosteronism	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0000859	HP:0000859	Hyperaldosteronism	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0000859	HP:0000859	Hyperaldosteronism	0	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	.	31
HP:0000859	HP:0000859	Hyperaldosteronism	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0000859	HP:0000859	Hyperaldosteronism	0	CYP11B1 CL E G H	1584	2591	OMIM:103900	Glucocorticoid-Remediable aldosteronism	.	112
HP:0000859	HP:0000859	Hyperaldosteronism	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0000859	HP:0000859	Hyperaldosteronism	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0000859	HP:0000859	Hyperaldosteronism	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040283 - Occasional	229
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	193
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional	128
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0000859	HP:0000859	Hyperaldosteronism	0	KCNJ5 CL E G H	3762	6266	OMIM:613677	Hyperaldosteronism, familial, type III	.	128
HP:0000859	HP:0000859	Hyperaldosteronism	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0000859	HP:0000859	Hyperaldosteronism	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0000859	HP:0000859	Hyperaldosteronism	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0000859	HP:0000859	Hyperaldosteronism	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0000859	HP:0000859	Hyperaldosteronism	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0000859	HP:0000859	Hyperaldosteronism	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0000859	HP:0000859	Hyperaldosteronism	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0000859	HP:0000859	Hyperaldosteronism	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0000859	HP:0000859	Hyperaldosteronism	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0000859	HP:0000859	Hyperaldosteronism	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0000859	HP:0000859	Hyperaldosteronism	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0000859	HP:0000859	Hyperaldosteronism	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0000859	HP:0000859	Hyperaldosteronism	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0000859	HP:0011741	Secondary hyperaldosteronism	1	CL E G H
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II		44
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I		112
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I		73
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III		128
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		67
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		61
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1		57
HP:0000859	HP:0011736	Primary hyperaldosteronism	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0000859	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	2	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040281 - Very frequent	44
HP:0000859	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	2	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	112
HP:0000859	HP:0011739	Dexamethasone-suppressible primary hyperaldosteronism	2	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040280 - Obligate	73
HP:0000859	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	2	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040281 - Very frequent	128
HP:0000859	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	67
HP:0000859	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	61
HP:0000859	HP:0011740	Glucocortocoid-insensitive primary hyperaldosteronism	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040281 - Very frequent	57

Genes (31) :ARMC5 BSND CACNA1D CACNA1H CDKN2A CLCN2 CLCNKA CLCNKB CTNNB1 CYP11A1 CYP11B1 CYP11B2 GNAS INSR KCNJ1 KCNJ10 KCNJ16 KCNJ2 KCNJ5 NR3C2 OCRL PRKAR1A SCNN1A SCNN1B SCNN1G SLC12A1 SLC12A3 SLC26A3 TERT TP53 ZNRF3

Diseases (29) :ORPHA:189427 OMIM:602522 ORPHA:89938 OMIM:615474 ORPHA:369929 OMIM:617027 ORPHA:1501 ORPHA:404 OMIM:605635 OMIM:613090 OMIM:607364 ORPHA:358 OMIM:613743 ORPHA:403 OMIM:103900 ORPHA:508 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:619406 ORPHA:37553 ORPHA:251274 OMIM:613677 OMIM:177735 ORPHA:534 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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