title: [From gene to disease; adrenocortical insufficiency, achalasia and disrupted tear secretion: Allgrove syndrome].
abstract: 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 12q13, which encodes for a tryptophan-aspartic acid (WD) repeat protein (aladin). The exact function of this protein is still not known.
authors.affiliation: Erasmus Medisch Centrum, locatie Dijkzigt, afd. Immunologie, Dr. Molewaterplein 40, 3015 GD Rotterdam.
authors.forename: P L A
authors.initials: PL
authors.lastname: van Daele
authors.forename: W W
authors.initials: WW
authors.lastname: de Herder
authors.forename: A
authors.initials: A
authors.lastname: Huebner
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics*; D000328:Adult; D002881:Chromosomes, Human, Pair 12; D004931:Esophageal Achalasia / Q000235:genetics*; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins; D011506:Proteins