Details of Disease | DrugMAP

General Information of Disease (ID: DISCA6TS)

Disease Name	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Synonyms	progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5; PEOB5; progressive external ophthalmoplegia, autosomal recessive 5
Disease Hierarchy	DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions DISCA6TS: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Disease Identifiers	MONDO ID MONDO_0020845 UMLS CUI C4748184 OMIM ID 618098 MedGen ID 1648331

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
TOP3A	OT3CKUI9	Strong	Autosomal recessive	[1]
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References

1	Topoisomerase 3 Is Required for Decatenation and Segregation of Human mtDNA. Mol Cell. 2018 Jan 4;69(1):9-23.e6. doi: 10.1016/j.molcel.2017.11.033. Epub 2017 Dec 28.