mitochondrial complex III deficiency nuclear type 6
Findings
No curated finding names mitochondrial complex III deficiency nuclear type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014194), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
20 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 IIIHPOHP:0011924
- 2 of 2 reported patients
- DehydrationHPOHP:0001944
- 2 of 2 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 2 of 2 reported patients
- Elevated lactate:pyruvate ratioHPOHP:0032653
- 2 of 2 reported patients
- HyperammonemiaHPOHP:0001987
- 2 of 2 reported patients
- HyperglycemiaHPOHP:0003074
- 2 of 2 reported patients
- Increased circulating lactate concentration
Show the remaining 8
- ComaHPOHP:0001259
- 1 of 2 reported patients
- EncephalopathyHPOHP:0001298
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Growth delayHPOHP:0001510
- 1 of 2 reported patients
- HypoglycemiaHPOHP:0001943
- 1 of 2 reported patients
- Metabolic ketoacidosisHPOHP:0005979
- 1 of 2 reported patients
Genes
1 gene
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.
- CYC1HGNC:2579
- Definitive · G2P · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
Other names
2 names
Resolves to: mitochondrial complex III deficiency nuclear type 6
- Also called
- CYC1 mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in CYC1