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[From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome].

Nederlands tijdschrift voor geneeskunde - 30 Nov 2002

van Daele P L A, de Herder W W, Huebner A

Abstract excerpt

Allgrove syndrome (triple A syndrome) is an autosomal recessive disorder characterised by adrenocortical insufficiency, achalasia and alacrima. Patients also suffer from diverse neurological disorders. Allgrove syndrome is caused by mutations in the AAAS gene located at chromosome 12q13, which encodes for a tryptophan-aspartic acid (WD) repeat protein (aladin). The exact function of this protein is still not known.

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Identifiers

PMID: 12497758

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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