Details of Disease

General Information of Disease (ID: DISXOJLH)

Disease Name Mitochondrial DNA depletion syndrome, hepatocerebral form
Synonyms deoxyguanosine kinase deficiency; mtDNA depletion syndrome, hepatocerebral form
Disease Hierarchy
DISIGZSM: Mitochondrial DNA depletion syndrome
DISXOJLH: Mitochondrial DNA depletion syndrome, hepatocerebral form
Disease Identifiers
MONDO ID
MONDO_0100512
MESH ID
C580039
UMLS CUI
C3711385
MedGen ID
777993

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DGUOK OT78HUZB Strong Biomarker [1]
MPV17 OT579DMU Strong Genetic Variation [2]
SAMHD1 OTBCIBC7 Strong Biomarker [3]
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References

1 A Screen Using iPSC-Derived Hepatocytes Reveals NAD(+) as a Potential Treatment for mtDNA Depletion Syndrome.Cell Rep. 2018 Nov 6;25(6):1469-1484.e5. doi: 10.1016/j.celrep.2018.10.036.
2 Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome.Dis Model Mech. 2017 Apr 1;10(4):439-450. doi: 10.1242/dmm.027540. Epub 2017 Feb 10.
3 The Deoxynucleoside Triphosphate Triphosphohydrolase Activity of SAMHD1 Protein Contributes to the Mitochondrial DNA Depletion Associated with Genetic Deficiency of Deoxyguanosine Kinase.J Biol Chem. 2015 Oct 23;290(43):25986-96. doi: 10.1074/jbc.M115.675082. Epub 2015 Sep 4.