Details of Disease

General Information of Disease (ID: DIS9NLHF)

Disease Name Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Synonyms
autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG; progressive external ophthalmoplegia, autosomal dominant 1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; POLG autosomal dominant progressive external ophthalmoplegia; PEOA1
Definition Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
Disease Hierarchy
DISXBSXA: Autosomal dominant progressive external ophthalmoplegia
DIS9NLHF: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Disease Identifiers
MONDO ID
MONDO_0024528
MESH ID
C563575
UMLS CUI
C1834846
OMIM ID
157640
MedGen ID
371919

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC25A4 TTU5A6Q Disputed GermlineCausalMutation [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POLG OTDUCT04 Definitive Autosomal dominant [2]
POLG2 OTDBMZJB Definitive GermlineCausalMutation [3]
RRM2B OTE8GBUR Definitive GermlineCausalMutation [4]
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References

1 SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. J Clin Neurol. 2011 Mar;7(1):25-30. doi: 10.3988/jcn.2011.7.1.25. Epub 2011 Mar 31.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
3 Biochemical analysis of human POLG2 variants associated with mitochondrial disease. Hum Mol Genet. 2011 Aug 1;20(15):3052-66. doi: 10.1093/hmg/ddr209. Epub 2011 May 9.
4 RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. Neurology. 2011 Jun 7;76(23):2032-4. doi: 10.1212/WNL.0b013e31821e558b.