Details of Disease | DrugMAP

General Information of Disease (ID: DISCD76Q)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 7
Synonyms	MC1DN7; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISCD76Q: Mitochondrial complex 1 deficiency, nuclear type 7
Disease Identifiers	MONDO ID MONDO_0032612 UMLS CUI C4748760 OMIM ID 618229 MedGen ID 1648484

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
NDUFV2	OTSZF7D6	Strong	Autosomal recessive	[1]
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References

1	Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat. 2003 Jun;21(6):582-6. doi: 10.1002/humu.10225.