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Article

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

Endocrine research - 1 Nov 2004

Huebner Angela, Kaindl A M, Knobeloch K P, Petzold H, Mann P, Koehler K

Abstract excerpt

The triple A syndrome (MIM#231550) is a rare autosomal recessive disorder characterized by adrenocorticotropic hormone (ACTH) resistant adrenal failure, achalasia, alacrima, and a variety of neurological and dermatological features. The triple A syndrome is caused by mutations in the AAAS gene, which encodes a protein known as ALADIN (ALacrima Achalasia aDrenal Insufficiency Neurologic disorder). ALADIN is a new...

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Identifiers

PMID: 15666842
DOI: 10.1081/erc-200044138

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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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