Mitochondrial Dna Depletion Syndrome 1 (MTDPS1)

Mitochondrial Dna Depletion Syndrome 1(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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