mitochondrial complex III deficiency
Findings
No curated finding names mitochondrial complex III deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
Definition from the Mondo Disease Ontology (MONDO:0015448), read 2026-09-29. CC BY 4.0.
Genes
11 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.
- BCS1LHGNC:1020
- Supportive · Orphanet · Autosomal recessive · 2021
- CYC1HGNC:2579
- Supportive · Orphanet · Autosomal recessive · 2021
- LYRM7HGNC:28072
- Supportive · Orphanet · Autosomal recessive · 2021
- MT-CYBHGNC:7427
- Supportive · Orphanet · Autosomal recessive · 2021
- TTC19HGNC:26006
- Supportive · Orphanet · Autosomal recessive · 2021
- UQCC2HGNC:21237
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (1)
Other names
5 names
Resolves to: mitochondrial complex III deficiency
- Also called
- isolated coenzyme Q-cytochrome C reductase deficiencyisolated CoQ-cytochrome C reductase deficiencyisolated mitochondrial respiratory chain complex III deficiencyisolated ubiquinone-cytochrome C reductase deficiencymitochondrial respiratory chain complex III deficiency