Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.

doi:10.1007/BF00214189

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Article

Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.

Human genetics - 1 Jul 1995

van Lieburg A F, Verdijk M A, Schoute F, Ligtenberg M J, van Oost B A, Waldhauser F, Dobner M, Monnens L A, Knoers N V

Abstract excerpt

Nephrogenic diabetes insipidus (NDI) usually shows an X-linked recessive mode of inheritance caused by mutations in the vasopressin type 2 receptor gene (AVPR2). In the present study, three NDI families are described in which females show clinical features resembling the phenotype in males. Maximal urine osmolality in three female patients did not exceed 200 mosmol/kg and the absence of extra-renal responses to...

Topics

Adolescent
Adult
Base Sequence
Child
Child, Preschool
Chromosome Mapping
Diabetes Insipidus, Nephrogenic
Female
Genetic Linkage
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant, Newborn

Male

Molecular Sequence Data

Mutation

Pedigree

Receptors, Vasopressin

Source

Open in PubMed

Identifiers

PMID: 7607658
DOI: 10.1007/BF00214189

Genes

AVPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7607658-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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