Conditions / Syndrome
triple-A syndrome
info ยท Syndrome
A syndrome 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.
Signs and symptoms
- Achalasia
- Alacrima
- Adrenal insufficiency
- Orthostatic hypotension
- Anisocoria
- Short stature
- Ataxia
- Motor axonal neuropathy
- Hyperpigmentation of the skin
- Adrenocorticotropin receptor defect
Also known as: AAAS; Achalasia-Addisonianism-Alacrimia syndrome; Allgrove Syndrome