Details of Disease | DrugMAP

General Information of Disease (ID: DISTUBAP)

Disease Name	Mitochondrial DNA depletion syndrome 8a
Synonyms	RRM2B-related mitochondrial DNA depletion syndrome; mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A; mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive; mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy; encephalomyopathic type with renal tubulopathy; Mngie, Rrm2B-related; mitochondrial DNA depletion syndrome 8B (Mngie type); mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related; mitochondrial DNA depletion syndrome type 8a; RRM2B mitochondrial DNA depletion syndrome; mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy; mitochondrial DNA depletion syndrome caused by mutation in RRM2B
Definition	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DIS4R581: Mitochondrial DNA depletion syndrome, encephalomyopathic form DISTUBAP: Mitochondrial DNA depletion syndrome 8a
Disease Identifiers	MONDO ID MONDO_0012792 MESH ID C536350 UMLS CUI C2749861 OMIM ID 612075 MedGen ID 412815 Orphanet ID 255235 SNOMED CT ID 765100000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RRM2B	OTE8GBUR	Strong	Autosomal recessive	[1]
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References

1	Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools. Nat Genet. 2003 Aug;34(4):440-5. doi: 10.1038/ng1212.