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:
Adrenal insufficiency (HP:0000846)

Parent Node:
Primary adrenal insufficiency (HP:0008207)

..Starting node
..Decreased circulating aldosterone level (HP:0004319)

Term ID:

4319

Name:

Decreased circulating aldosterone level

Synonym:

Decreased aldosterone; Decreased aldosterone production; Decreased serum aldosterone; Hypoaldosteronism; Low blood aldosterone level; Mineralocorticoid insufficiency

Definition:

Abnormally reduced levels of aldosterone.

Comments:

Reference:

HP:0004319

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased circulating cortisol level (HP:0008163)

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:0004319	HP:0004319	Decreased circulating aldosterone level	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.	57
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent	92
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	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:0004319	HP:0004319	Decreased circulating aldosterone level	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	CYP11B1 CL E G H	1584	2591	OMIM:202010	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency		112
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	CYP11B2 CL E G H	1585	2592	ORPHA:556030	Early-onset familial hypoaldosteronism	HP:0040282 - Frequent	73
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	CYP17A1 CL E G H	1586	2593	ORPHA:90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0040282 - Frequent	53
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040282 - Frequent	14
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	94
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	26
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	13
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	NR3C1 CL E G H	2908	7978	ORPHA:786	Generalized glucocorticoid resistance syndrome	HP:0040281 - Very frequent	79
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy	.	109
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	SCNN1B CL E G H	6338	10600	OMIM:177200	Liddle syndrome 1	.	61
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	SCNN1G CL E G H	6340	10602	OMIM:618114	Liddle syndrome 2		57
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	45
HP:0004319	HP:0004319	Decreased circulating aldosterone level	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040283 - Occasional	85

Genes (18) :AAAS AIRE CYP11A1 CYP11B1 CYP11B2 CYP17A1 HSD11B2 HSD3B2 MC2R MRAP NNT NR0B1 NR3C1 NR3C2 SCNN1B SCNN1G STAR TXNRD2

Diseases (19) :OMIM:231550 OMIM:240300 ORPHA:3453 ORPHA:168558 ORPHA:289548 OMIM:202010 OMIM:203400 ORPHA:556030 OMIM:610600 ORPHA:90793 ORPHA:320 OMIM:218030 ORPHA:90791 ORPHA:361 OMIM:300200 ORPHA:786 OMIM:605115 OMIM:177200 OMIM:618114

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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