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GENATLAS PHENOTYPE

last update : 15-10-2013

Symbol	MNGIE
Location	22q13.33
Name	mitochondrial neurogastrointestinal encephalopathy syndrome
Other name(s)	myoneurogastrointestinal encephalopathy syndrome polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction polip syndrome mitochondrial DNA depletion syndrome 1
Corresponding gene	TYMP
Other symbol(s)	MTDPS1
Main clinical features	mitochondrial multisystem disorder characterized by ophthalmoplegia, demyelinating neuropathy, thin body habitus, peripheral neuropathy, and myopathy, leuko-encephalopathy and neurogastrointestinal dysfunction (intestinal pseudo-obstruction), with multiple mtDNA deletions, and hyperdense signals on cerebral MRI
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/gastrointestinal
	eye
	neuromuscular
	neurology
	metabolism/organic acid
Type	disease

Gene product

Name	endothelial cell growth factor 1 (platelet-derived)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function
deletion			multiple deletions of mtDNA
various types			homozygous and compound heterozygous mutations in ECGF1

Remark(s)

. Treatments of hemodialysis filtered thymidine from the circulation of two MNGIE patients, but only transiently: the nucleoside reaccumulated to baseline levels in plasma within 24 hours of treatment (PMID: 11733540)) . A young woman with MNGIE treated with peritoneal dialysis for three years showed clinical improvements of gastrointestinal symptoms but plasma nucleoside levels did not change (PMID: 16498612)) . Allogenic hematopoietic stem cell transplantations restore TPase activity permanently (PMID: 20436523))