mitochondrial complex I deficiency
MONDO:0100133Also known as: NADH coenzyme Q reductase deficiency, complex 1 mitochondrial respiratory chain deficiency, isolated NADH-CoQ reductase deficiency, isolated NADH-coenzyme Q reductase deficiency, isolated NADH-ubiquinone reductase deficiency
- MONDO:
- MONDO:0100133
- Orphanet:
- 2609 ↗
Rare disease45 associated genes
Description
A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.
Associated genes
+35 more genes — install the extension to see the full list inline on any page.