mitochondrial complex I deficiency, nuclear type
MONDO:0100223Mondo
Findings
No curated finding names mitochondrial complex I deficiency, nuclear type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial complex I deficiency in which the cause of the disease is a mutation in the nuclear-encoded genes that encode structural subunits or assembly factors of complex I.
Definition from the Mondo Disease Ontology (MONDO:0100223), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (37)
- Leber hereditary optic neuropathy, autosomal recessive
- mitochondrial complex I deficiency, nuclear type 1
- mitochondrial complex I deficiency, nuclear type 10
- mitochondrial complex I deficiency, nuclear type 11
- mitochondrial complex I deficiency, nuclear type 12
- mitochondrial complex I deficiency, nuclear type 13
- mitochondrial complex I deficiency, nuclear type 14
- mitochondrial complex I deficiency, nuclear type 15
- mitochondrial complex I deficiency, nuclear type 16
- mitochondrial complex I deficiency, nuclear type 17
- mitochondrial complex I deficiency, nuclear type 18
- mitochondrial complex I deficiency, nuclear type 19
- mitochondrial complex I deficiency, nuclear type 2
- mitochondrial complex I deficiency, nuclear type 21
- mitochondrial complex I deficiency, nuclear type 22
- mitochondrial complex I deficiency, nuclear type 23