FB2026_03 , released September 17, 2026
Human Disease Model Report: progressive external ophthalmoplegia with mtDNA deletions, autosomal recessive 1
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General Information
Name
progressive external ophthalmoplegia with mtDNA deletions, autosomal recessive 1
FlyBase ID
FBhh0000446
Disease Ontology Term
Parent Disease
OMIM
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1
Overview

This report describes progressive external ophthalmoplegia with mtDNA deletions, autosomal recessive 1, one of several diseases associated with the human DNA polymerase gene POLG, which plays a role in replication of mitochondrial DNA. See the human disease model report for mtDNA polymerase disorders, POLG-related (FBhh0000432) for information on experimental results using Drosophila models of this and related diseases. See MIM:174763 for variants of POLG associated with this disease. OMIM includes this disease in the phenotypic series progressive external ophthalmoplegia with mtDNA deletions (FBhh0000444).

[updated Nov. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: progressive external ophthalmoplegia with mtDNA deletions
Symptoms and phenotype

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003, pubmed:12975295; Luoma et al., 2004, pubmed:15351195) [from MIM:157640; 2019.02.19]

(OMIM, 2013-)
Specific Disease Summary: progressive external ophthalmoplegia with mtDNA deletions, autosomal recessive 1
OMIM report

[PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PEOB1](https://omim.org/entry/258450)

Human gene(s) implicated

[POLYMERASE, DNA, GAMMA; POLG](https://omim.org/entry/174763)

Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
PEOB1
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
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        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Selected Drosophila transgenes
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        RNAi constructs available
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        Selected Drosophila classical alleles
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        References (3)