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mitochondrial complex III deficiency, nuclear type 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency, nuclear type 10

MONDO:0032909

Also known as:MC3DN10

Overview

Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the UQCRFS1 gene.

GeneticsAutosomal recessive · UQCRFS1 (chr 19)

OnsetINFANTILE, ANTENATAL, CONGENITAL

ResearchLimited published research (3 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: Stress/infection-induced lactic acidosis, Alopecia totalis, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Hypothermia and others; and common findings: Hyperventilation, Persistent left superior vena cava, Persistent fetal circulation, and Ventricular septal defect and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4

Genetic Landscape

UQCRFS1 function has not been fully characterized.

Mitochondrial complex III deficiency, nuclear type 10 is associated with mutations in the UQCRFS1 gene on chromosome 19.

Diagnosis

Genetic testing for UQCRFS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 17 always present features, 6 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 10.

4 publications have been identified in PubMed for mitochondrial complex III deficiency, nuclear type 10. Kisho has analyzed 3 by research type. Research spans Basic Science / Preclinical (67%) and Review / Meta-Analysis (33%).

Recent Publications

Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Mol Genet Metab*. [Basic Science / Preclinical]
Xu M (2026). [PMID: 41380592](https://pubmed.ncbi.nlm.nih.gov/41380592/). *Redox Biol*. [Basic Science / Preclinical]
Čunátová K (2024). [PMID: 39053894](https://pubmed.ncbi.nlm.nih.gov/39053894/). *J Inherit Metab Dis*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618775

GARD

Genetic and Rare Diseases Info Center

GARD:16377

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 10

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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