triple A syndrome


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triple A syndrome

[MIM*231550]
autosomal recessive syndrome associated with achalasia of the cardia, and alacrima; associated problems include abnormalities of the nervous system such as mental retardation and autonomic dysfunction.
Synonym(s): Allgrove syndrome

triple A syndrome

[MIM*231550]
autosomal recessive syndrome associated with achalasia of the cardia, and alacrima; associated problems include abnormalities of the nervous system such as mental retardation and autonomic dysfunction.
Synonym(s): Allgrove syndrome
References in periodicals archive ?
The triple A syndrome gene, designated AAAS, localized on chromosome 12q 13 encodes for a 546 amino acid protein called ALADIN (Alacrimia-Achlasia-Adrenal Insufficiency and Neurologic disorder).
Based on presentation of achalasia, alacrima and adrenal insufficiency, diagnosis of triple A syndrome was made.
All patients were homozygous for mutations in the triple A syndrome gene.
Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster.
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.
The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.
The triple A syndrome is due to mutations in ALADIN, A novel member of the nuclear pore complex.