KEGG   DISEASE: H01118Help
H01118                      Disease                                

Progressive external ophthalmoplegia (PEO)
Progressive external ophthalmoplegia (PEO) is a mitochondrial disorder associated with mtDNA depletion and/or accumulation of mtDNA point mutations and deletions. PEO is characterized by late onset bilateral ptosis and progressive weakening of the external eye muscle, resulting in blepharoptosis and ophthalmoparesis, proximal muscle weakness, and wasting as well as exercise intolerance. Muscle biopsy results typically show ragged red fibers and cytochrome c oxidase-negative fibers. PEO is transmitted as dominant or recessive traits.
Nervous system disease; Musculoskeletal disease; Eye disease; Inherited metabolic disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01118  Progressive external ophthalmoplegia (PEO)
Human diseases in ICD-10 classification [BR:br08403]
 7. Diseases of the eye and adnexa (H00-H59)
  H49-H52  Disorders of ocular muscles, binocular movement, accommodation and refraction
   H49  Paralytic strabismus
    H01118  Progressive external ophthalmoplegia (PEO)
BRITE hierarchy
Calcium signaling pathway
Purine metabolism
Pyrimidine metabolism
Glutathione metabolism
ANT1 [HSA:291] [KO:K05863]
TWINKLE [HSA:56652] [KO:K17680]
POLG [HSA:5428] [KO:K02332]
POLG2 [HSA:11232] [KO:K02333]
RRM2B [HSA:50484] [KO:K10808]
Other DBs
PMID:12975295 (description, gene)
Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Arch Neurol 60:1279-84 (2003)
PMID:12835509 (description, gene)
Van Goethem G, Martin JJ, Van Broeckhoven C
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
Neuromolecular Med 3:129-46 (2003)
PMID:22176657 (description, gene)
Copeland WC
Defects in mitochondrial DNA replication and human disease.
Crit Rev Biochem Mol Biol 47:64-74 (2012)

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