Details of Disease | DrugMAP

General Information of Disease (ID: DISF1BMB)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 26
Synonyms	MC1DN26; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISF1BMB: Mitochondrial complex 1 deficiency, nuclear type 26
Disease Identifiers	MONDO ID MONDO_0032630 UMLS CUI C4748809 OMIM ID 618247 MedGen ID 1648283

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
NDUFA9	OTMKQJJ8	Limited	Autosomal recessive	[1]
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References

1	Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. J Med Genet. 2011 Nov;48(11):737-40. doi: 10.1136/jmg.2011.088856. Epub 2011 May 26.