Details of Disease

General Information of Disease (ID: DISSXAMN)

Disease Name Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Synonyms
PEOA4; progressive external ophthalmoplegia, autosomal dominant 4; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4; progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2; POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Definition Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.
Disease Hierarchy
DISXBSXA: Autosomal dominant progressive external ophthalmoplegia
DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions
DISSXAMN: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Disease Identifiers
MONDO ID
MONDO_0012415
MESH ID
C566437
UMLS CUI
C1864668
OMIM ID
610131
MedGen ID
350480

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
POLG2 OTDBMZJB Strong Autosomal dominant [1]
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References

1 Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet. 2006 Jun;78(6):1026-34. doi: 10.1086/504303. Epub 2006 May 4.