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progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6

MONDO:0957993

Overview

GeneticsAutosomal recessive, Autosomal dominant · RRM1 (chr 11)

ResearchLimited published research (1 article)

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: Myopathy, Multiple mitochondrial DNA deletions, Ptosis, and Ophthalmoplegia; and very common findings: Limb muscle weakness and Difficulty swallowing (dysphagia). 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	9	Myopathy, Limb muscle weakness, Weakness of facial musculature

Genetic Landscape

RRM1 function has not been fully characterized.

Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 is associated with mutations in the RRM1 gene on chromosome 11.

Diagnosis

Genetic testing for RRM1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 9 common 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 6.

1 publication has been identified in PubMed for progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6. Research spans Review / Meta-Analysis (100%).

Recent Publications

Wen H (2025). [PMID: 39788934](https://pubmed.ncbi.nlm.nih.gov/39788934/). *Signal Transduct Target Ther*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:48 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620647

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 6

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

Questions for Your Care Team

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