DISEASES

Disease-gene associations mined from literature

Human genes for choreaacanthocytosis

Choreaacanthocytosis [DOID:0050766]

A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21.

Synonyms:  choreaacanthocytosis,  choreaacanthocytosises,  DOID:0050766,  choreo-acanthocytosis,  Levine-Critchley syndrome ...

Linkouts:  OMIM