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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 mutationChromosome rearrangementEffectComments
    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))