KEGG   DISEASE: Progressive external ophthalmoplegia (PEO)Help
H01118                      Disease                                

Progressive external ophthalmoplegia (PEO)
POLG related disorders [DS:H01395]
Mitochondrial diseases [DS:H01427]
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; Congenital disorder of metabolism
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H01118  Progressive external ophthalmoplegia (PEO)
 Congenital disorders of metabolism
  Mitochondrial 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
hsa04020  Calcium signaling pathway
hsa00230  Purine metabolism
hsa00240  Pyrimidine metabolism
hsa00480  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]
DNA2 [HSA:1763] [KO:K10742]
RNASEH1 [HSA:246243] [KO:K03469]
TK2 [HSA:7084] [KO:K00857]
DGUOK [HSA:1716] [KO:K00904]
Mitochondrial disease
Other DBs
ICD-10: H49.4
MeSH: D017246
OMIM: 609283 609286 157640 258450 610131 613077 615156 616479 617069 617070
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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