Details of Disease | DrugMAP

General Information of Disease (ID: DIS3XJ22)

Disease Name	Mitochondrial complex 1 deficiency, nuclear type 3
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3; MC1DN3
Disease Hierarchy	DISTGV31: Mitochondrial complex I deficiency, nuclear type DIS3XJ22: Mitochondrial complex 1 deficiency, nuclear type 3
Disease Identifiers	MONDO ID MONDO_0032608 UMLS CUI C4748752 OMIM ID 618224 MedGen ID 1648346

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NDUFS7	DEIW03B	Strong	Autosomal recessive	[1]
NDUFS7	DEIW03B	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NDUFS7	OTIRMB2O	Strong	Autosomal recessive	[1]
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References

1	Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol. 1999 Jun;45(6):787-90. doi: 10.1002/1531-8249(199906)45:6<787::aid-ana13>3.0.co;2-6.
2	Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.J Biol Chem. 2004 Sep 24;279(39):40328-36. doi: 10.1074/jbc.M408068200. Epub 2004 Jul 21.