DISEASES

Disease-gene associations mined from literature

Human genes for Wolfram syndrome 1

Wolfram syndrome 1 [DOID:0110629]

An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1.

Synonyms:  Wolfram syndrome 1,  DOID:0110629,  diabetes mellitus AND insipidus with optic atrophy AND deafness,  DIDMOAD,  diabetes mellitus AND insipidus with optic atrophy AND deafnesses ...