Details of Disease

General Information of Disease (ID: DISRQBIJ)

Disease Name Nephrogenic syndrome of inappropriate antidiuresis
Synonyms nephrogenic syndrome of inappropriate antidiuresis; nephrogenic syndrome of inappropriate antidiuresis, X-linked recessive; NSIAD
Definition
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels.
Disease Hierarchy
DISZ75RJ: Inherited renal tubular disease
DISRQBIJ: Nephrogenic syndrome of inappropriate antidiuresis
Disease Identifiers
MONDO ID
MONDO_0010356
MESH ID
C564491
UMLS CUI
C1845202
OMIM ID
300539
MedGen ID
336877
Orphanet ID
93606
SNOMED CT ID
723440000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AVP TTJ8EWH Strong Genetic Variation [1]
AVPR2 TTK8R02 Strong X-linked [2]
AVPR2 TTK8R02 Strong Genetic Variation [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AQP2 OTQLBKK6 Strong Genetic Variation [4]
AVPR2 OTJ2GUB1 Strong X-linked [2]
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References

1 Nephrogenic Syndrome of Inappropriate Antidiuresis in a Female Neonate: Review of the Clinical Presentation in Females.Horm Res Paediatr. 2015;84(1):65-7. doi: 10.1159/000381586. Epub 2015 Apr 25.
2 Nephrogenic syndrome of inappropriate antidiuresis. N Engl J Med. 2005 May 5;352(18):1884-90. doi: 10.1056/NEJMoa042743.
3 Germline-Derived Gain-of-Function Variants of Gs-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.J Am Soc Nephrol. 2019 May;30(5):877-889. doi: 10.1681/ASN.2018121268. Epub 2019 Apr 8.
4 Gain-of-function mutations of the V2 vasopressin receptor in nephrogenic syndrome of inappropriate antidiuresis (NSIAD): a cell-based assay to assess constitutive water reabsorption.Pflugers Arch. 2019 Oct;471(10):1291-1304. doi: 10.1007/s00424-019-02307-x. Epub 2019 Sep 5.