Wolfram syndrome

The DIDMOAD syndrome ( or Wolfram syndrome ) is a mitochondrial and distinctive form of diabetes mellitus.

Clinic

DIDMOAD is an English acronym for the description of the typical features of this syndrome:

  • Diabetes insipidus
  • Diabetes mellitus
  • Optical atrophy ( optic nerve atrophy )
  • Deafness ( deafness)

Furthermore, the patients develop diabetic neuropathy. The disease starts in the first decade of life, the course is progressive.

Genetics

The Wolfram syndrome is an autosomal recessive disorder and is caused by mutations in the gene wolframin ( WFS1 ) on the short arm of chromosome 4 ( 4p16.1 ) causes.

Orphanet
289895
de