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mitochondrial complex III deficiency nuclear type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mitochondrial complex III deficiency nuclear type 3

MONDO:0014064

Also known as:UQCRB mitochondrial complex III deficiencymitochondrial complex III deficiency caused by mutation in UQCRBMC3DN3

Overview

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

GeneticsAutosomal recessive · UQCRB (chr 8)

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: Elevated circulating aspartate aminotransferase concentration, Decreased activity of mitochondrial complex III, Increased circulating lactate concentration, and Enlarged liver (hepatomegaly) and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	4	Elevated circulating aspartate aminotransferase concentration, Decreased activity of mitochondrial complex III, Increased circulating lactate concentration

Genetic Landscape

UQCRB function has not been fully characterized.

Mitochondrial complex III deficiency nuclear type 3 is associated with mutations in the UQCRB gene on chromosome 8.

Diagnosis

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

Prognosis

Phenotype severity distribution: 8 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 3.

14 publications have been identified in PubMed for mitochondrial complex III deficiency nuclear type 3. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (36%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Laboratory research	7	50%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615158

GARD

Genetic and Rare Diseases Info Center

GARD:15911

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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Kisho

mitochondrial complex III deficiency nuclear type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

mitochondrial complex III deficiency nuclear type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications