Triple A Syndrome Overview
Learn About Triple A Syndrome
Triple A syndrome, also called Allgrove syndrome, is an inherited condition that gets its name from three specific features: achalasia, adrenal insufficiency, and alacrima. Most people with triple A syndrome have all three of these features, although some have only two.
Variants (also called mutations) in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN. ALADIN appears to be very active in the cells of the adrenal glands, brain, and digestive system. ALADIN is located in the nuclear envelope, which is the structure that surrounds the nucleus and separates it from the rest of the cell. ALADIN helps determine which molecules can enter and exit the nucleus.
Triple A syndrome is a rare condition; it is estimated to affect 1 in 1 million individuals. However, it is likely that many people with this condition never receive a diagnosis.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Katrin Koehler practices in Dresden, Germany. Ms. Koehler is rated as an Elite expert by MediFind in the treatment of Triple A Syndrome. Her top areas of expertise are Triple A Syndrome, Familial Glucocorticoid Deficiency, Addison's Disease, and Achalasia.
Dana Landgraf practices in Dresden, Germany. Landgraf is rated as an Elite expert by MediFind in the treatment of Triple A Syndrome. Their top areas of expertise are Triple A Syndrome, Familial Glucocorticoid Deficiency, Achalasia, and Addison's Disease.
Helen Storr practices in London, United Kingdom. Ms. Storr is rated as an Elite expert by MediFind in the treatment of Triple A Syndrome. Her top areas of expertise are Triple A Syndrome, Short Stature (Growth Disorders), Familial Glucocorticoid Deficiency, Nelson Syndrome, and Endoscopic Transnasal Transsphenoidal Surgery.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: August 22, 2025
Published By: National Institutes of Health