[From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome].

[triple a syndrome]

Allgrove syndrome (triple A syndrome ) is an autosomal recessive disorder characterised by adrenocortical insufficiency , achalasia and alacrima . Patients also suffer from diverse neurological disorders . Allgrove syndrome is caused by mutations in the AAAS gene located at chromosome 12 q 13 , which encodes for a tryptophan-aspartic acid (WD ) repeat protein (aladin ). The exact function of this protein is still not known .