Details of Disease

General Information of Disease (ID: DISANCL5)

• Disease Name: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
• Synonyms: progressive external ophthalmoplegia, autosomal recessive 4; PEOB4; adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4; adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency; progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
• Definition: An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.
• Disease Hierarchy:
  DISZOPFU: Progressive external ophthalmoplegia with mitochondrial DNA deletions
  DISANCL5: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
• Disease Identifiers:
  MONDO ID: MONDO_0014899
  UMLS CUI: C4310733
  OMIM ID: 617070
  MedGen ID: 934700
  Orphanet ID: 329314

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DGUOK	OT78HUZB	Supportive	Autosomal recessive	[1]

References

• [1] Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4.