Details of Disease | DrugMAP

General Information of Disease (ID: DISY53WH)

Disease Name	Autosomal recessive progressive external ophthalmoplegia
Synonyms	arPEO; progressive external ophthalmoplegia, autosomal recessive
Definition	Autosomal recessive form of progressive external ophthalmoplegia.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISX4ATI: Progressive external ophthalmoplegia DISY53WH: Autosomal recessive progressive external ophthalmoplegia
Disease Identifiers	MONDO ID MONDO_0016810 UMLS CUI C1850303 MedGen ID 340509 Orphanet ID 254886 SNOMED CT ID 827117008

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
TK2	TT7KNZQ	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLG	OTDUCT04	Supportive	Autosomal recessive	[2]
TK2	OTS1V4XB	Supportive	Autosomal recessive	[1]
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References

1	Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum Mol Genet. 2012 Jan 1;21(1):66-75. doi: 10.1093/hmg/ddr438. Epub 2011 Sep 21.
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.