Mitochondrial Dna Depletion Syndrome 4b (MTDPS4B)

Mitochondrial Dna Depletion Syndrome 4b(来自ICD-11)

别称:

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mngie Syndrome

Mitochondrial Neurogastrointestinal Encephalopathy Disease

Thymidine Phosphorylase Deficiency

Mtdps4b

Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction

Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome 4b Mngie Type

Myoneurogastrointestinal Encephalopathy Syndrome

Mitochondrial Dna Depletion Syndrome, Type 4b

Oculogastrointestinal Muscular Dystrophy

Mngie, Polg-Related

Mngie Polg-Related

Mngie Disease

Mepop

Ogimd

Polip

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Dna Depletion Syndrome 4b, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, is related to mitochondrial dna depletion syndrome 8a and mitochondrial neurogastrointestinal encephalomyopathy, and has symptoms including abdominal pain, vomiting and intermittent diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 4b is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Metabolism of nucleotides and Pyrimidine metabolism. Affiliated tissues include brain and eye, and related phenotypes are seizure and hearing impairment

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