Details of Disease

General Information of Disease (ID: DISCPLX4)

Disease Name Mitochondrial complex I deficiency, nuclear type 1
Synonyms
mitochondrial complex I deficiency; mitochondrial complex 1 deficiency; mitochondrial complex I deficiency, nuclear type 1; MC1DN1; NADH:Q(1) oxidoreductase deficiency; NADH-coenzyme Q reductase deficiency; mitochondrial NADH dehydrogenase component of Complex I, deficiency of
Disease Hierarchy
DIS9SA7V: Mitochondrial myopathy
DISTGV31: Mitochondrial complex I deficiency, nuclear type
DISCPLX4: Mitochondrial complex I deficiency, nuclear type 1

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
NDUFS2 DEKX5CD Definitive Autosomal recessive [1]
NDUFS7 DEIW03B Definitive Autosomal recessive [2]
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This Disease Is Related to 11 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NDUFB8 OTW4A4Q0 Strong Autosomal recessive [3]
NDUFS4 OTJKUYEE Strong Autosomal recessive [4]
ELAC2 OTY3BOF6 Definitive Autosomal recessive [5]
FOXRED1 OTYEB8YK Definitive Autosomal recessive [6]
NDUFA1 OTKBUQXP Definitive X-linked [2]
NDUFS1 OTTIZDFR Definitive Autosomal recessive [2]
NDUFS2 OTBT8KW9 Definitive Autosomal recessive [1]
NDUFS7 OTIRMB2O Definitive Autosomal recessive [2]
NDUFS8 OTMEAWKO Definitive Autosomal recessive [2]
NDUFV1 OTEVK4WW Definitive Autosomal recessive [2]
NUBPL OTQMCSXT Definitive Autosomal recessive [2]
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⏷ Show the Full List of 11 DOT(s)

References

1 Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. Ann Neurol. 2001 Feb;49(2):195-201. doi: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8.
4 Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. Biochem Biophys Res Commun. 2000 Aug 18;275(1):63-8. doi: 10.1006/bbrc.2000.3257.
5 ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2013 Aug 8;93(2):211-23. doi: 10.1016/j.ajhg.2013.06.006. Epub 2013 Jul 11.
6 FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet. 2010 Dec 15;19(24):4837-47. doi: 10.1093/hmg/ddq414. Epub 2010 Sep 21.