Details of Disease | DrugMAP

General Information of Disease (ID: DISBXRM2)

Disease Name	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Synonyms	NN; MPV17-related hepatocerebral mitochondrial DNA depletion syndrome; MTDPS6; Navajo familial neurogenic arthropathy; mitochondrial DNA depletion syndrome 6; Navajo neurohepatopathy; mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Navajo neuropathy
Disease Hierarchy	DISXOJLH: Mitochondrial DNA depletion syndrome, hepatocerebral form DISBXRM2: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Disease Identifiers	MONDO ID MONDO_0009747 MESH ID C538344 UMLS CUI C1850406 OMIM ID 256810 MedGen ID 338045 Orphanet ID 255229 SNOMED CT ID 784346006

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
MPV17	OT579DMU	Definitive	Autosomal recessive	[1]
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References

1	MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006 May;38(5):570-5. doi: 10.1038/ng1765. Epub 2006 Apr 2.