Details of Disease | DrugMAP

General Information of Disease (ID: DISRMDH5)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 23
Synonyms	MC1DN23; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISRMDH5: Mitochondrial complex 1 deficiency, nuclear type 23
Disease Identifiers	MONDO ID MONDO_0032627 UMLS CUI C4748799 OMIM ID 618244 MedGen ID 1648408

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
NDUFA12	OTCD6I5M	Definitive	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.