DISEASES

Disease-gene associations mined from literature

Human genes for giant axonal neuropathy 1

Giant axonal neuropathy 1 [DOID:0090068]

An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.

Synonyms:  giant axonal neuropathy 1,  DOID:0090068