Mitochondrial Dna Depletion Syndrome 1 (MTDPS1)

Mitochondrial Dna Depletion Syndrome 1, also known as myoneurogastrointestinal encephalopathy syndrome, is related to mitochondrial dna depletion syndrome 6 and mitochondrial dna depletion syndrome 3, and has symptoms including abdominal pain, vomiting and intermittent diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Transcriptional activation of mitochondrial biogenesis. Affiliated tissues include skeletal muscle and liver, and related phenotypes are ptosis and diplopia