triple A syndrome

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An autosomal recessive neuroendocrinological disease (alachrima–achalasia–adrenal insufficiency syndrome, addinsonianism) in which there is defective tear formation (alacrima), achalasia of the stomach cardia, and adrenal hormone deficiency (hypoadrenalism). It is caused by mutations in a gene that encodes a nucleoporin, aladin (546 aa), a component of the nuclear pore complex.

Subjects: Medicine and Health.

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