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ENMitochondrial Dna Depletion Syndrome 1 (MTDPS1)
Alias:
Myoneurogastrointestinal Encephalopathy Syndrome
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related
Polip Syndrome
Mtdps1
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Mitochondrial Neurogastrointestinal Encephalomyopathy
Mitochondrial Dna Depletion Syndrome 1, Mngie Type
Mitochondrial Dna Depletion Syndrome, Type 1
Myoneurogastrointestinal Encephalomyopathy
Mngie, Tymp-Related
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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
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