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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (PEOB5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

MONDO:0020845

Also known as:PEOB5progressive external ophthalmoplegia, autosomal recessive 5

Overview

GeneticsAutosomal recessive · TOP3A (chr 17)

ResearchLimited published research (2 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: Broad-based gait, Difficulty swallowing (dysphagia), Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), and Diplopia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Broad-based gait, Difficulty swallowing (dysphagia), Dysarthria

Genetic Landscape

TOP3A function has not been fully characterized.

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 is associated with mutations in the TOP3A gene on chromosome 17.

Diagnosis

Genetic testing for TOP3A is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 18 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 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.

2 publications have been identified in PubMed for progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5. Research spans Review / Meta-Analysis (50%) and Case Report / Case Series (50%).

Recent Publications

Bao S (2025). [PMID: 40556660](https://pubmed.ncbi.nlm.nih.gov/40556660/). *Front Cardiovasc Med*. [Review / Meta-Analysis]
Cicchinelli M (2024). [PMID: 39409059](https://pubmed.ncbi.nlm.nih.gov/39409059/). *Int J Mol Sci*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618098

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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progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5

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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