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Article

Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.

The Journal of clinical endocrinology and metabolism - 1 Sept 1993

McLeod J F, Kovács L, Gaskill M B, Rittig S, Bradley G S, Robertson G L

Abstract excerpt

We studied the pathophysiology, natural history, and genetic basis of familial neurohypophyseal diabetes insipidus (FNDI) in a caucasian kindred. Twelve members had polyuria and a deficiency of plasma vasopressin (AVP), which progressed in severity over time. Another had normal urine volumes and plasma AVP when first tested at age 3 yr, but developed severe FNDI a year later. For unknown reasons, one man had a...

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Identifiers

PMID: 8370682
DOI: 10.1210/jcem.77.3.8370682

Genes

AVP

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

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Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation.PMID 8370682Read ↗

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A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neuronsSemantic proximity Read ↗

Familial forms of diabetes insipidus: clinical and molecular characteristics.Semantic proximity Read ↗

A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons.Semantic proximity Read ↗

Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus.Semantic proximity Read ↗

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