You are using an outdated browser. Please upgrade your browser to improve your experience.

triple-A syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.
Uniprot Description An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.
Disease Ontology Description An autosomal recessive disease characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system.
Mondo Term and Equivalent IDs
MONDO:0009279:  triple-A syndrome
EFO:1001997: 
GARD:0000457: 
MESH:C536008: 
NCIT:C131005: 
Orphanet:869: 
SCTID:45414006: