Details of Disease | DrugMAP

General Information of Disease (ID: DIS8KP4P)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 18
Synonyms	MC1DN18; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS8KP4P: Mitochondrial complex 1 deficiency, nuclear type 18
Disease Identifiers	MONDO ID MONDO_0032623 UMLS CUI C4748790 OMIM ID 618240 MedGen ID 1648321

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
NDUFAF3	OT4MCB6W	Strong	Autosomal recessive	[1]
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References

1	Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21.