Triple A Syndrome

About the Disease
Achalasia-Addisonianism-Alacrima Syndrome, also known as allgrove syndrome, is related to congenital nervous system abnormality and familial glucocorticoid deficiency, and has symptoms including ataxia and muscle weakness. An important gene associated with Achalasia-Addisonianism-Alacrima Syndrome is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are Gene expression (Transcription) and Metabolism of proteins. The drugs Tetracosactide and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, eye and skin, and related phenotypes are achalasia and generalized hyperpigmentation

Common Targets
AAAS | TRAPPC11

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