Details of Disease | DrugMAP

General Information of Disease (ID: DISYJ1EV)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 13
Synonyms	MC1DN13; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISYJ1EV: Mitochondrial complex 1 deficiency, nuclear type 13
Disease Identifiers	MONDO ID MONDO_0032618 UMLS CUI C4748770 OMIM ID 618235 MedGen ID 1648370

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
NDUFA2	OTNSTATK	Strong	Autosomal recessive	[1]
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References

1	NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet. 2008 Jun;82(6):1306-15. doi: 10.1016/j.ajhg.2008.05.007.