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mitochondrial complex III deficiency nuclear type 9 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency nuclear type 9

MONDO:0014496

Also known as:UQCC3 mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in UQCC3MC3DN9

Overview

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene.

GeneticsAutosomal recessive · UQCC3 (chr 11)

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: Periventricular cysts, Hypermetropia, Feeding difficulties, and Decreased activity of mitochondrial complex III and others.

Organ System	Phenotype Count	Example Features
Lab test results	2	Decreased activity of mitochondrial complex III, Increased circulating lactate concentration

Genetic Landscape

UQCC3 function has not been fully characterized.

Mitochondrial complex III deficiency nuclear type 9 is associated with mutations in the UQCC3 gene on chromosome 11.

Diagnosis

Genetic testing for UQCC3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 15 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 9.

3 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 9. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]
İpek R (2025). [PMID: 40014158](https://pubmed.ncbi.nlm.nih.gov/40014158/). *Neurogenetics*. [Case Report / Case Series]
Čunátová K (2024). [PMID: 39053894](https://pubmed.ncbi.nlm.nih.gov/39053894/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616111

GARD

Genetic and Rare Diseases Info Center

GARD:16060

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 9

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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