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Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.

Genetic testing - 1 Jan 2006

Boson W L, Della Manna T, Damiani D, Miranda D M, Gadelha M R, Liberman B, Correa H, Romano-Silva M A, Friedman E, Silva F F, Ribeiro P A, De Marco L

Abstract excerpt

Nephrogenic diabetes insipidus (NDI) is an inherited disorder characterized by renal resistance to the antidiuretic effect of arginine vasopressin (AVP), resulting in polyuria, polydipsia, and hypoosmolar urine. In the vast majority of cases, NDI is associated with germ-line mutations in the vasopressin receptor type 2 gene (AVPR2) and in about 8% of the cases with the water channel aquaporin-2 gene (AQP-2)...

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Source

Identifiers

PMID: 17020465
DOI: 10.1089/gte.2006.10.157

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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Novel vasopressin type 2 (AVPR2) gene mutations in Brazilian nephrogenic diabetes insipidus patients.PMID 17020465Read ↗

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