Details of Disease | DrugMAP

General Information of Disease (ID: DIS1L5IG)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 2
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS1L5IG: Mitochondrial complex 1 deficiency, nuclear type 2
Disease Identifiers	MONDO ID MONDO_0032606 UMLS CUI C4748737 OMIM ID 618222 MedGen ID 1648466

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
NDUFS8	OTMEAWKO	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology. 2004 May 25;62(10):1899-901. doi: 10.1212/01.wnl.0000125251.56131.65.