mitochondrial complex III deficiency nuclear type 5
Findings
No curated finding names mitochondrial complex III deficiency nuclear type 5 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 UQCRC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014066), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- HyperammonemiaHPOHP:0001987
- 3 of 3 reported patients
- HypoglycemiaHPOHP:0001943
- 3 of 3 reported patients
- Increased circulating lactate concentrationHPOHP:0002151
- 3 of 3 reported patients
- Increased circulating pyruvate concentrationHPOHP:0003542
- 3 of 3 reported patients
- Metabolic acidosisHPOHP:0001942
- 3 of 3 reported patients
- Episodic tachypneaHPOHP:0002876
- 2 of 3 reported patients
- Global developmental delayHPO
Show the remaining 4
- Episodic vomitingHPOHP:0002572
- 1 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 3 reported patients
- Poor suckHPOHP:0002033
- 1 of 3 reported patients
- Small for gestational ageHPOHP:0001518
- 1 of 3 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.
- UQCRC2HGNC:12586
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: mitochondrial complex III deficiency nuclear type 5
- Also called
- mitochondrial complex III deficiency caused by mutation in UQCRC2UQCRC2 mitochondrial complex III deficiency