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mitochondrial complex III deficiency nuclear type 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency nuclear type 7

MONDO:0014356

Also known as:UQCC2 mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in UQCC2MC3DN7

Overview

Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene.

GeneticsAutosomal recessive · UQCC2 (chr 6)

OnsetNEONATAL

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: Epicanthus, Upslanted palpebral fissure, Seizure, and Low muscle tone (hypotonia) and others. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Poor speech, Seizure, Aggressive behavior

Genetic Landscape

UQCC2 function has not been fully characterized.

Mitochondrial complex III deficiency nuclear type 7 is associated with mutations in the UQCC2 gene on chromosome 6.

Diagnosis

Genetic testing for UQCC2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 25 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 7.

4 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 7. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).

Recent Publications

Dong H (2025). [PMID: 39878121](https://pubmed.ncbi.nlm.nih.gov/39878121/). *Autophagy*. [Basic Science / Preclinical]
Tavasoli A (2024). [PMID: 38846886](https://pubmed.ncbi.nlm.nih.gov/38846886/). *Annals of medicine and surgery (2012)*. [Case Report / Case Series]
Zhang X (2024). [PMID: 39850733](https://pubmed.ncbi.nlm.nih.gov/39850733/). *Frontiers in neurology*. [Review / Meta-Analysis]
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 19, 2026, 5:32 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615824

GARD

Genetic and Rare Diseases Info Center

GARD:16015

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 7

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

Questions for Your Care Team

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