Details of Disease

General Information of Disease (ID: DISUXRUM)

• Disease Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
• Synonyms: adult-onset CPEO with mitochondrial myopathy
• Definition: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
• Disease Hierarchy:
  DIS9SA7V: Mitochondrial myopathy
  DISK7IP8: Mitochondrial oxidative phosphorylation disorder
  DISUXRUM: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
• Disease Identifiers:
  MONDO ID: MONDO_0018002
  UMLS CUI: C4511138
  MedGen ID: 1393682
  Orphanet ID: 329336
  SNOMED CT ID: 725464001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RNASEH1	OTT7L25X	Supportive	Autosomal dominant	[1]
RRM2B	OTE8GBUR	Supportive	Autosomal dominant	[2]

References

• [1] RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18.
• [2] Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29.