Details of Disease

General Information of Disease (ID: DISFFUHN)

Disease Name Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Synonyms
progressive external ophthalmoplegia, autosomal dominant 2; PEOA2; progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions
Definition Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene.
Disease Hierarchy
DISXBSXA: Autosomal dominant progressive external ophthalmoplegia
DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions
DISFFUHN: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Disease Identifiers
MONDO ID
MONDO_0012238
MESH ID
C563750
UMLS CUI
C1836460
OMIM ID
609283
MedGen ID
322925

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 Strong Biomarker [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 Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC25A4 OTKYLK2J Strong Autosomal dominant [2]
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References

1 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
2 A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet. 1999 Jul;65(1):256-61. doi: 10.1086/302445.