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mitochondrial complex III deficiency nuclear type 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency nuclear type 4

MONDO:0014065

Also known as:UQCRQ mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in UQCRQMC3DN4

Overview

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

GeneticsAutosomal recessive · UQCRQ (chr 5)

ResearchLimited published research (4 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: Axial hypotonia, Inability to walk, Dystonia, and Decreased activity of mitochondrial complex III and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Absent speech, Inability to walk, Dystonia

Genetic Landscape

UQCRQ function has not been fully characterized.

Mitochondrial complex III deficiency nuclear type 4 is associated with mutations in the UQCRQ gene on chromosome 5.

Diagnosis

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

Prognosis

Phenotype severity distribution: 12 always present 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 4.

5 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 4. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Alghamdi M (2026). [PMID: 41818954](https://pubmed.ncbi.nlm.nih.gov/41818954/). *Mol Genet Metab*. [Basic Science / Preclinical]
Haddad S (2025). [PMID: 40207266](https://pubmed.ncbi.nlm.nih.gov/40207266/). *Oxf Med Case Reports*. [Case Report / Case Series]
Kalantari S (2025). [PMID: 39821332](https://pubmed.ncbi.nlm.nih.gov/39821332/). *Am J Med Genet A*. [Case Report / Case Series]
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 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615159

GARD

Genetic and Rare Diseases Info Center

GARD:15912

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 4

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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