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last update : 23-04-2012
Symbol WFSMT
Location mt
Name Wolfram syndrome with multiple mitochondrial deletions
Other name(s)
  • diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form
  • DIDMOAD syndrome, mitochondrial form
  • Corresponding gene MT-ND1
    Other symbol(s) DIDMOAD1
    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
  • progressive, neurodegenerative disorder, with diabetes mellitus and optic atrophy presenting in the first decade, cranial diabetes insipidus, and sensorineural deafness in the second, and neuropathic bladder in the third, followed by neurological complications in the fourth decade (PMID: 21723259))
  • Genetic determination mitochondrial
    Function/system disorder metabolism/carbohydrates
    kidney and urinary tract
    Type disease
  • mitochondrial ND1 m.3337G>A mutation associated to Wolfram syndrome (PMID: 21723259))