Details of Disease

General Information of Disease (ID: DISU350O)

Disease Name Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Synonyms
PEOA5; progressive external ophthalmoplegia, autosomal dominant 5; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5; RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions; progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Definition Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene.
Disease Hierarchy
DISXBSXA: Autosomal dominant progressive external ophthalmoplegia
DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions
DISU350O: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Disease Identifiers
MONDO ID
MONDO_0013117
MESH ID
C567768
UMLS CUI
C2751319
OMIM ID
613077
MedGen ID
413981

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RRM2B OTE8GBUR Strong Autosomal dominant [1]
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References

1 In vitro characterization of enzymatic properties and inhibition of the p53R2 subunit of human ribonucleotide reductase. Cancer Res. 2004 Jan 1;64(1):1-6. doi: 10.1158/0008-5472.can-03-3048.