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GENATLAS PHENOTYPE

last update : 26-02-2009

Symbol	MTDM
Location	mt
Name	mitochondrial diabetes mellitus with deafness
Other name(s)	maternally inherited diabetes and deafness Ballinger-Wallace syndrome
Corresponding gene	MT-TL1
Other symbol(s)	MIDD
Main clinical features	deafness, beginning at 20 to 30 years of age, with a rapid and severe increase in bilateral sensory hearing loss, apparition of diabetes mellitus later in the third decade, and insulin was required either immediately or at a later date
Genetic determination	mitochondrial
Function/system disorder	metabolism/carbohydrates
	neuromuscular
Type	disease

Gene product

Name	tRNA Leu (nt3264), tRNA Leu(nt3243)

Remark(s)

3243A>G mtDNA is the most frequent cause of mitochondrial diabetes, often presenting as the syndrome maternally inherited diabetes and deafness but also cause myopathy, ataxia, strokes, ophthalmoplegia (Frederiksen 2009)