Achalasia Addisonianism Alacrima syndrome; Triple A syndrome; Allgrove syndrome
Subgroup
Alacrima, achalasia, and mental retardation syndrome
Description
Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the adrenal glands or adrenal hormone system
5A74 Adrenocortical insufficiency
H00257 Achalasia Addisonianism Alacrima syndrome
Koehler K, Malik M, Mahmood S, Giesselmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nurnberg G, Thiele H, Altmuller J, Nurnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Bramswig J, Muhlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hubner CA
Title
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
