Mitochondrial Dna Depletion Syndrome 4b (MTDPS4B)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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26
127
71

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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