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Article

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Human molecular genetics - 1 Feb 2001

Handschug K, Sperling S, Yoon S J, Hennig S, Clark A J, Huebner A

Abstract excerpt

The triple A syndrome (MIM 231550) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia and alacrima. The frequent association with a variety of neurological features may result in a severely disabling disease. We previously mapped the syndrome to a 6 cM interval on chromosome 12q13 and have now refined the critical region to 0 cM between KRT8 and D12S1651. Overlapping...

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Share to Abnormalities, Multiple
Share to Adrenal Insufficiency
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single-Stranded Conformational

Share to Repetitive Sequences, Nucleic Acid

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Source

Identifiers

PMID: 11159947
DOI: 10.1093/hmg/10.3.283

Genes

KRT8

Provenance

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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