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GENATLAS PHENOTYPE

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
	ear
	eye
	kidney and urinary tract
Type	disease

Remark(s)

mitochondrial ND1 m.3337G>A mutation associated to Wolfram syndrome (PMID: 21723259))