Mitochondrial Dna Depletion Syndrome 3 (MTDPS3)

Alias:

Deoxyguanosine Kinase Deficiency

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Hepatocerebral Mitochondrial Dna Depletion Syndrome

Mtdps3

Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency

Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form

Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive

Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type

Dguok-Related Mitochondrial Dna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome , Type 3

Mtdna Depletion Syndrome, Hepatocerebral Form

Dguok Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mitochondrial Dna Depletion Syndrome 3, also known as deoxyguanosine kinase deficiency, is related to mitochondrial dna depletion syndrome 6 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4, and has symptoms including icterus, seizures and vomiting. An important gene associated with Mitochondrial Dna Depletion Syndrome 3 is DGUOK (Deoxyguanosine Kinase), and among its related pathways/superpathways is Peroxisomal lipid metabolism. Affiliated tissues include liver and eye, and related phenotypes are failure to thrive and hepatic failure

Related ID：

MALACARDS：MTC063

OMIM：251880

MESH：C580039