" /> Achalasia-addisonianism-alacrima syndrome - CISMeF





Preferred Label : Achalasia-addisonianism-alacrima syndrome;

Symbol : AAAS;

CISMeF acronym : AAAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Triple-a syndrome; Alacrima-achalasia-adrenal insufficiency neurologic disorder; Glucocorticoid deficiency and achalasia; Allgrove syndrome; Addisonian-achalasia syndrome; Hypoadrenalism with achalasia; Acth-resistant adrenal insufficiency, achalasia and alacrima; ALACRIMA-ACHALASIA-ADDISONIANISM;

Included titles and symbols : Achalasia-alacrima syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the aladin gene (AAAS, 605378.0001);

Laboratory abnormalities : Schirmer test shows alacrima;

Prefixed ID : #231550;

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03/05/2025


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