DISEASES

Disease-gene associations mined from literature

Human genes for autosomal dominant sensory ataxia 1

Autosomal dominant sensory ataxia 1 [DOID:0111170]

A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.

Synonyms:  autosomal dominant sensory ataxia 1,  DOID:0111170,  ADSA,  SNAX1