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GENATLAS PHENOTYPE
last update : 27-06-2012
Symbol DIDMOAD
Location 4p16.1
Name Wolfram syndrome
Other name(s) diabetes insipidus, diabetes mellitus, optic atrophy and deafness 2
Corresponding gene WFS1
Other symbol(s) DIDMOAD2, WFS1
Main clinical features
  • progressive neurodegenerative disorder, diabetes insipidus, non autoimmune insulin dependent diabetes mellitus, (optic atrophy, neurosensory deafness, renal-tract abnormalities, late ataxia and myoclonus), peripheral neuropathy psychiatric illness, Dueto-vasopressin neuron loss in the supraoptic nucleus and defect in precursor processing
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    ear
    eye
    kidney and urinary tract
    Type disease
    Gene product
    Name wolframin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function E864K, in exon 8, leading to optic atrophy associated with hearing impairment and impaired glucose regulation (increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells)
    Remark(s) pathogenesis of Wolfram syndrome involves chronic ER stress in pancreatic beta-cells caused by the loss of function of WFS1