triple-A syndrome

Term ID

DOID:0050602

Synonyms

• AAAS
• Achalasia-Addisonianism-Alacrimia syndrome
• Allgrove Syndrome

Definition

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. https://ghr.nlm.nih.gov/condition/triple-a-syndrome

References

• GARD:457
• OMIM:231550

Ontology

Human Disease   ( DOID:0050602 )