Mitochondrial Complex I Deficiency, Nuclear Type 6 (MC1DN6)

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Disease Ontology 12 DOID:0112066 OMIM® 57 618228 OMIM Phenotypic Series 57 PS252010

MeSH 44 D028361 MedGen 41 C4748759 CN257512 SNOMED-CT via HPO 68 14648003 190882007 214264003 233873004 258211005 278849000 36440009 409623005 418143002 432788009 45227007 52522001 563001 609225004 76976005 86854008 91273001 more

UniProtKB/Swiss-Prot : ⁷³ Mitochondrial complex I deficiency, nuclear type 6: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Mitochondrial Complex I Deficiency, Nuclear Type 6, is also known as mc1dn6. An important gene associated with Mitochondrial Complex I Deficiency, Nuclear Type 6 is NDUFS2 (NADH:Ubiquinone Oxidoreductase Core Subunit S2). Affiliated tissues include brain, and related phenotypes are hyperreflexia and failure to thrive

Disease Ontology : ¹² A nuclear type mitochondrial complex I deficiency that has material basis in homozygous or compund heterozygous mutation in NDUFS2 on chromosome 1q23.

More information from OMIM: 618228 PS252010

Clinical features from OMIM®:

618228 (Updated 05-Mar-2021)

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