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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

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Inappropriate ADH Syndrome (D007177)
..Starting node ..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
Child Nodes:
Sister Nodes:
..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7871

Name:

Nephrogenic Syndrome of Inappropriate Antidiuresis

Definition:

Alternative IDs:

OMIM:300539

ParentIDs:

MESH:D007177|MESH:D040181

TreeNumbers:

C10.228.140.617.738.320/C564491 |C16.320.322/C564491 |C18.452.950.626/C564491 |C19.700.490/C564491

Synonyms:

NSIAD

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: C564491
MeSH: C564491
OMIM: 300539;

Genes: AVPR2;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003351	Decreased circulating renin level
3	HP:0004421	Elevated systolic blood pressure
4	HP:0012605	Hypernatriuria
5	HP:0002902	Hyponatremia
6	HP:0000737	Irritability
7	HP:0001250	Seizure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_000054.4(AVPR2):c.409C>T (p.Arg137Cys)	554	AVPR2	Pathogenic	104894761	RCV000011601;	N	MedGen:C1845202,OMIM:300539,ORPHA:93606	X	153171369	153171369	NM_000054.4:c.409C>T	NP_000045.1:p.Arg137Cys	NC_000023.10:g.153171369C>G,NC_000023.10:g.153171369C>T	OMIM Allelic Variant:300538.0021	C1845202 300539 Nephrogenic syndrome of inappropriate antidiuresis
NM_000054.4(AVPR2):c.410G>T (p.Arg137Leu)	554	AVPR2	Pathogenic	104894756	RCV000011602;	N	MedGen:C1845202,OMIM:300539,ORPHA:93606	X	153171370	153171370	NM_000054.4:c.410G>T	NP_000045.1:p.Arg137Leu	NC_000023.10:g.153171370G>A,NC_000023.10:g.153171370G>T	OMIM Allelic Variant:300538.0022	C1845202 300539 Nephrogenic syndrome of inappropriate antidiuresis