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Article

Intrafamilial phenotype variability in nephrogenic diabetes insipidus.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Apr 2002

Kalenga Karine, Persu Alexandre, Goffin Eric, Lavenne-Pardonge Edith, van Cangh Paul J, Bichet Daniel G, Devuyst Olivier

Abstract excerpt

X-Linked nephrogenic diabetes insipidus (NDI), which accounts for 90% of inherited cases of NDI, is caused by mutations in the AVPR2 gene that encodes the arginine vasopressin (AVP) receptor type 2 (V2R). The V2R mediates the antidiuretic action of AVP in principal cells of the collecting duct. To date, only three AVPR2 mutations (P322S, D85N, and G201D) have been associated with a mild NDI phenotype, and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11920339
DOI: 10.1053/ajkd.2002.31993

Genes

AVPR2
AVP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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