Mitochondrial Dna Depletion Syndrome 8a (MTDPS8A)

Alias:

Mitochondrial Dna Depletion Syndrome 8b

Mtdps8a

Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, with Renal Tubulopathy, Autosomal Recessive

Mitochondrial Dna Depletion Syndrome Encephalomyopathic with Renal Tubulopathy Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type with Renal Tubulopathy

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related

Encephalomyopathic Mitochondrial Depletion Syndrome with Renal Tubulopathy

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related

Mtdna Depletion Syndrome, Encephalomyopathic Form with Renal Tubulopathy

Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Dna Depletion Syndrome 8b Mngie Type

Mitochondrial Dna Depletion Syndrome, Type 8a

Mngie Rrm2b-Related

Rrm2b-Mds

Mtdps8b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Dna Depletion Syndrome 8a, also known as mitochondrial dna depletion syndrome 8b, is related to mitochondrial dna depletion syndrome 4b and visceral myopathy, familial, with external ophthalmoplegia, and has symptoms including cachexia, seizures and gait ataxia. An important gene associated with Mitochondrial Dna Depletion Syndrome 8a is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B), and among its related pathways/superpathways is Energy metabolism. Affiliated tissues include brain and kidney, and related phenotypes are proximal tubulopathy and lactic acidosis

Related ID：

MALACARDS：MTC065

OMIM：612075

MESH：C536350