Details of Disease | DrugMAP

General Information of Disease (ID: DISQJ8QT)

Disease Name	Mitochondrial DNA deletion syndrome with progressive myopathy
Synonyms	PEOA6; progressive external ophthalmoplegia, autosomal dominant 6; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6; mtDNA deletion syndrome with limb-girdle weakness; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6; mtDNA deletion syndrome with progressive myopathy; mitochondrial DNA deletion syndrome with limb-girdle weakness
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions DISQJ8QT: Mitochondrial DNA deletion syndrome with progressive myopathy
Disease Identifiers	MONDO ID MONDO_0014062 UMLS CUI C3554599 OMIM ID 615156 MedGen ID 767513 Orphanet ID 352470

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
DNA2	OT4DJFFU	Strong	Autosomal dominant	[1]
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References

1	Interplay of Mre11 nuclease with Dna2 plus Sgs1 in Rad51-dependent recombinational repair. PLoS One. 2009;4(1):e4267. doi: 10.1371/journal.pone.0004267. Epub 2009 Jan 23.