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

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]

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.