Details of Disease | DrugMAP

General Information of Disease (ID: DIS4P9LH)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 8
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8; MC1DN8
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS4P9LH: Mitochondrial complex 1 deficiency, nuclear type 8
Disease Identifiers	MONDO ID MONDO_0032613 UMLS CUI C4748766 OMIM ID 618230 MedGen ID 1648411

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NDUFS3	DE741FI	Strong	Autosomal recessive	[1]
NDUFS3	DE741FI	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDUFS3	OTX61TQQ	Strong	Autosomal recessive	[1]
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References

1	Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 2004 Jan;41(1):14-7. doi: 10.1136/jmg.2003.014316.
2	A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.J Hum Genet. 2018 Dec;63(12):1269-1272. doi: 10.1038/s10038-018-0505-0. Epub 2018 Aug 23.