Details of Disease

General Information of Disease (ID: DISLLP33)

Disease Name Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Synonyms
progressive external ophthalmoplegia, autosomal dominant 3; PEOA3; TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions; progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Definition Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.
Disease Hierarchy
DISXBSXA: Autosomal dominant progressive external ophthalmoplegia
DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions
DISLLP33: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Disease Identifiers
MONDO ID
MONDO_0012241
MESH ID
C563747
UMLS CUI
C1836439
OMIM ID
609286
MedGen ID
373087

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
TWNK OTUD091O Strong Autosomal dominant [1]
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References

1 Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet. 2001 Jul;28(3):223-31. doi: 10.1038/90058.