Details of Disease | DrugMAP

General Information of Disease (ID: DISWF4HA)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 22
Synonyms	MC1DN22; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISWF4HA: Mitochondrial complex 1 deficiency, nuclear type 22
Disease Identifiers	MONDO ID MONDO_0032626 UMLS CUI C4748796 OMIM ID 618243 MedGen ID 1648347

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
NDUFA10	OTBURQ3A	Strong	Autosomal recessive	[1]
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References

1	NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. Eur J Hum Genet. 2011 Mar;19(3):270-4. doi: 10.1038/ejhg.2010.204. Epub 2010 Dec 8.