Conditions / Syndrome
Wolfram syndrome 1
info · Syndrome · ICD-10: E13.8
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
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.
Signs and symptoms
- Diabetes mellitus
- Optic atrophy
- Hearing impairment
- Hydronephrosis
- Sensorineural hearing impairment
- Pigmentary retinopathy
- Cataract
- Megaloblastic anemia
- Sideroblastic anemia
- Limited mobility of proximal interphalangeal joint
Also known as: DIDMOAD; WFS1; diabetes mellitus AND insipidus with optic atrophy AND deafness