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mitochondrial complex III deficiency, nuclear type 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency, nuclear type 11

MONDO:0859321

Overview

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

GeneticsAutosomal recessive · UQCRH (chr 1)

ResearchLimited published research (1 article)

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: Confusion, Vomiting, Decreased activity of mitochondrial complex III, and Increased circulating lactate concentration and others; and common findings: Diarrhea, Microtia, Fever, and Recurrent upper respiratory tract infections and others.

Organ System	Phenotype Count	Example Features
Digestive system	4	Diarrhea, Vomiting, Pancreatitis

Genetic Landscape

UQCRH function has not been fully characterized.

Mitochondrial complex III deficiency, nuclear type 11 is associated with mutations in the UQCRH gene on chromosome 1.

Diagnosis

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

Prognosis

Phenotype severity distribution: 7 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 11.

1 publication has been identified in PubMed for mitochondrial complex III deficiency, nuclear type 11. Research spans Review / Meta-Analysis (100%).

Recent Publications

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, 11:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620137

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 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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