Triple A syndrome

Also known as: AAAS; Allgrove syndrome

Adrenal insufficiency, achalasia and alacrima.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Adrenal disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, first decade
Gene(s) involved: AAAS

Etiology & mechanism

Nuclear pore protein ALADIN deficiency.

Gene(s) involved (1)

AAAS

Symptoms & signs (6)

achalasiaadrenal insufficiencyalacrimaautonomic dysfunctionhyperkeratosisneurologic deterioration

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.