mitochondrial complex I deficiency
Findings
No curated finding names mitochondrial complex I deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100133), read 2026-09-29. CC BY 4.0.
Features
37 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Obligate (100% of cases)
- Abnormal mitochondria in muscle tissueHPOHP:0008316
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- EncephalopathyHPOHP:0001298
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Focal T2 hyperintense brainstem lesionHPOHP:0012748
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Increased CSF lactateHPOHP:0002490
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Lactic acidosisHPOHP:0003128
- Very frequent (80% to 99% of cases)
- LethargyHPOHP:0001254
- Very frequent (80% to 99% of cases)
- LeukodystrophyHPOHP:0002415
- Very frequent (80% to 99% of cases)
- LeukoencephalopathyHPOHP:0002352
- Very frequent (80% to 99% of cases)
Genes
29 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.
- FOXRED1HGNC:26927
- Supportive · Orphanet · Autosomal recessive · 2021
- HGNC:33551HGNC:33551
- Supportive · Orphanet · Autosomal recessive · 2021
- MT-ND1HGNC:7455
- Supportive · Orphanet · Autosomal recessive · 2021
- MT-ND2HGNC:7456
- Supportive · Orphanet · Autosomal recessive · 2021
- MT-ND3HGNC:7458
- Supportive · Orphanet · Autosomal recessive · 2021
- NDUFA1HGNC:7683
Where it sits
Other names
8 names
Resolves to: mitochondrial complex I deficiency
- Also called
- complex 1 mitochondrial respiratory chain deficiencyisolated complex I deficiencyisolated mitochondrial respiratory chain complex I deficiencyisolated NADH-coenzyme Q reductase deficiencyisolated NADH-CoQ reductase deficiencyisolated NADH-ubiquinone reductase deficiencymitochondrial respiratory chain complex I deficiencyNADH coenzyme Q reductase deficiency