Details of Disease

General Information of Disease (ID: DISXBSXA)

Disease Name Autosomal dominant progressive external ophthalmoplegia
Synonyms
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; PEOA1; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1; adPEO; progressive external ophthalmoplegia, autosomal dominant
Definition Autosomal dominant form of progressive external ophthalmoplegia.
Disease Hierarchy
DISX4ATI: Progressive external ophthalmoplegia
DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions
DIS3HIWD: Autosomal dominant disease
DISXBSXA: Autosomal dominant progressive external ophthalmoplegia
Disease Identifiers
MONDO ID
MONDO_0008003
UMLS CUI
C5231255
MedGen ID
1686757
Orphanet ID
254892
SNOMED CT ID
827115000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TWNK OTUD091O Supportive Autosomal dominant [1]
POLG OTDUCT04 Supportive Autosomal dominant [2]
POLG2 OTDBMZJB Supportive Autosomal dominant [3]
RRM2B OTE8GBUR Supportive Autosomal dominant [4]
SLC25A4 OTKYLK2J Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A4 DTPTFKU Supportive Autosomal dominant [1]
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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 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2. doi: 10.1038/90034.
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.