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 urine homeostasis (HP:0003110)

Parent Node:
Abnormal urinary electrolyte concentration (HP:0012591)

..Starting node
..Renal salt wasting (HP:0000127)

Term ID:

127

Name:

Renal salt wasting

Synonym:

Loss of salt in urine; Renal salt-wasting; Salt wasting; Salt-wasting

Definition:

A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).

Comments:

Reference:

HP:0000127

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal urine chloride concentration (HP:0012600)

Abnormal urine magnesium concentration (HP:0012607)

Abnormal urine phosphate concentration (HP:0012599)

Abnormal urine potassium concentration (HP:0012598)

Abnormal urine sodium concentration (HP:0012603)

Abnormality of urine calcium concentration (HP:0011280)

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:0000127	HP:0000127	Renal salt wasting	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.	53
HP:0000127	HP:0000127	Renal salt wasting	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	53
HP:0000127	HP:0000127	Renal salt wasting	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	9
HP:0000127	HP:0000127	Renal salt wasting	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	9
HP:0000127	HP:0000127	Renal salt wasting	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0000127	HP:0000127	Renal salt wasting	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.	27
HP:0000127	HP:0000127	Renal salt wasting	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040281 - Very frequent	27
HP:0000127	HP:0000127	Renal salt wasting	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:0000127	HP:0000127	Renal salt wasting	0	CYP11A1 CL E G H	1583	2590	OMIM:613743	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	.	31
HP:0000127	HP:0000127	Renal salt wasting	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:0000127	HP:0000127	Renal salt wasting	0	CYP11B1 CL E G H	1584	2591	ORPHA:90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	HP:0040283 - Occasional	112
HP:0000127	HP:0000127	Renal salt wasting	0	CYP11B2 CL E G H	1585	2592	OMIM:203400	Corticosterone methyloxidase type I deficiency	.	73
HP:0000127	HP:0000127	Renal salt wasting	0	CYP11B2 CL E G H	1585	2592	OMIM:610600	Hypoaldosteronism, congenital, due to CMO II deficiency		73
HP:0000127	HP:0000127	Renal salt wasting	0	CYP21A2 CL E G H	1589	2600	OMIM:201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	.	86
HP:0000127	HP:0000127	Renal salt wasting	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:0000127	HP:0000127	Renal salt wasting	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0000127	HP:0000127	Renal salt wasting	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040281 - Very frequent	121
HP:0000127	HP:0000127	Renal salt wasting	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance	.	121
HP:0000127	HP:0000127	Renal salt wasting	0	KCNJ16 CL E G H	3773	6262	OMIM:619406	HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD
HP:0000127	HP:0000127	Renal salt wasting	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0000127	HP:0000127	Renal salt wasting	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0000127	HP:0000127	Renal salt wasting	0	MUC1 CL E G H	4582	7508	OMIM:174000	Tubulointerstitial kidney disease, autosomal dominant, 2	.	1
HP:0000127	HP:0000127	Renal salt wasting	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0000127	HP:0000127	Renal salt wasting	0	NNT CL E G H	23530	7863	OMIM:614736	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency	HP:0040283 - Occasional	13
HP:0000127	HP:0000127	Renal salt wasting	0	NR0B1 CL E G H	190	7960	OMIM:300200	Adrenal hypoplasia, congenital	.	48
HP:0000127	HP:0000127	Renal salt wasting	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0000127	HP:0000127	Renal salt wasting	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0000127	HP:0000127	Renal salt wasting	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0000127	HP:0000127	Renal salt wasting	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0000127	HP:0000127	Renal salt wasting	0	STAR CL E G H	6770	11359	OMIM:201710	Lipoid congenital adrenal hyperplasia	.	45
HP:0000127	HP:0000127	Renal salt wasting	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85

Genes (21) :BSND CLCNKA CLCNKB CYP11A1 CYP11B1 CYP11B2 CYP21A2 HSD3B2 KCNJ1 KCNJ10 KCNJ16 MC2R MRAP MUC1 NNT NR0B1 SARS2 SCNN1A SLC12A1 STAR TXNRD2

Diseases (24) :OMIM:602522 ORPHA:89938 OMIM:613090 OMIM:607364 ORPHA:168558 OMIM:613743 ORPHA:289548 ORPHA:90795 OMIM:203400 OMIM:610600 OMIM:201910 ORPHA:90791 OMIM:241200 ORPHA:199343 OMIM:612780 OMIM:619406 ORPHA:361 OMIM:174000 OMIM:614736 OMIM:300200 OMIM:613845 OMIM:264350 OMIM:601678 OMIM:201710

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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