Details of Disease | DrugMAP

General Information of Disease (ID: DISY3WZU)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 5
Synonyms	MC1DN5; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DISY3WZU: Mitochondrial complex 1 deficiency, nuclear type 5
Disease Identifiers	MONDO ID MONDO_0032610 UMLS CUI C4748754 OMIM ID 618226 MedGen ID 1648292

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
NDUFS1	OTTIZDFR	Strong	Autosomal recessive	[1]
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References

1	Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet. 2001 Jun;68(6):1344-52. doi: 10.1086/320603. Epub 2001 May 7.