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Article

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants.

Clinical genetics - 1 Aug 2026

Joseph Jennifa, Søndergaard Esben, Knorr Sine, Knudsen Jane Hagelskjær, Rittig Søren, Christensen Jane Hvarregaard

Abstract excerpt

Central diabetes insipidus, or arginine vasopressin deficiency (AVP-D), is a rare disorder caused by insufficient release of antidiuretic hormone from the pituitary gland. The disease is characterised by severe polyuria and polydipsia, which, in rare cases, can be caused by variants in the AVP gene. The aim of the present study was to identify the genetic cause of AVP-D in two families and compile and discuss an...

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Identifiers

PMID: 42212497
DOI: 10.1111/cge.70183
PMCID: PMC13327225

Genes

AVP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants.PMID 42212497Read ↗

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