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mitochondrial complex III deficiency nuclear type 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency nuclear type 5

MONDO:0014066

Also known as:UQCRC2 mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in UQCRC2MC3DN5

Overview

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene.

GeneticsAutosomal recessive · UQCRC2 (chr 16)

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Increased circulating pyruvate concentration, Increased circulating lactate concentration, Hyperammonemia, and Hypoglycemia and others; and common findings: Microcephaly, Poor suck, Episodic vomiting, and Global developmental delay and others. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	6	Increased circulating pyruvate concentration, Increased circulating lactate concentration, Elevated circulating sebacic acid concentration

Genetic Landscape

UQCRC2 function has not been fully characterized.

Mitochondrial complex III deficiency nuclear type 5 is associated with mutations in the UQCRC2 gene on chromosome 16.

Diagnosis

Genetic testing for UQCRC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 5 always present features, 11 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mitochondrial complex III deficiency nuclear type 5.

9 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 5. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (44%), and Review / Meta-Analysis (11%).

Recent Publications

Preston G (2026). [PMID: 41972687](https://pubmed.ncbi.nlm.nih.gov/41972687/). *Cells*. [Case Report / Case Series]
Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Molecular genetics and metabolism*. [Case Report / Case Series]
Xue X (2026). [PMID: 41761273](https://pubmed.ncbi.nlm.nih.gov/41761273/). *Biol Direct*. [Basic Science / Preclinical]
Bindi V (2026). [PMID: 42163747](https://pubmed.ncbi.nlm.nih.gov/42163747/). *Curr Pediatr Rev*. [Case Report / Case Series]
Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615160

GARD

Genetic and Rare Diseases Info Center

GARD:15913

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mitochondrial complex III deficiency nuclear type 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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