DISEASES

Disease-gene associations mined from literature

Human genes for triple-A syndrome

triple-A syndrome [DOID:0050602]

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.

Synonyms:  triple-A syndrome,  DOID:0050602,  tripleA syndrome,  triple-A disease,  triple-A disorder ...

Linkouts:  OMIM