triple A syndrome

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triple A syndrome2016-12-03T07:51:39+00:00

triple A syndrome  

triple A syndrome image from New Medical Terms

triple A

ENDOCRINOLOGY

Definition An autosomal recessive condition (OMIM:231550) characterised by glucocorticoid deficiency, achalasia of the gastric cardia, defective tear formation–alacrima and often changes of autonomic dysfunction. Over time, many patients develop neurologic disease–e.g., polyneuropathy with sensory, motor, and autonomic components, long-tract degeneration, parkinsonism, and mild dementia

Molecular pathology Defects of AAAS, which encodes a regulatory protein that is thought to be involved in normal development of the peripheral and central nervous systems. 

Synonyms AAA syndrome, AAAS, achalasia-Addisonianism-alacrima syndrome, achalasia-Addisonian syndrome, achalasia-adrenal insufficiency, achalasia-alacrima syndrome (included), ACTH-resistant adrenal insufficiency—achalasia and alacrima, addisonian-achalasia syndrome, adrenal insufficiency-alacrima-achalasia, alacrima-achalasia-addisonianism, alacrima-achalasia-adrenal insufficiency neurologic disorder, alacrima-achalasia-addisonian syndrome, alacrima-achalasia-addisonianism, alacrima-addisonianism-achalasia syndrome, Allgrove syndrome, glucocorticoid deficiency and achalasia, hypoadrenalism with achalasia 

References http://www.uniprot.org/uniprot/Q9NRG9

http://www.omim.org/entry/231550

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