KEGG   DISEASE: H00838Help
Entry
H00838                      Disease                                

Name
Congenital fibrosis of the extraocular muscles (CFEOM)
Description
Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear (CN 4) nerves, and/or the muscles these nerves innervate. CFEOM is characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Three clinical phenotypes for familial CFEOM (CFEOM1, 2, and 3) have been delineated.
Category
Nervous system disease; Eye disease
BRITE hierarchy
Pathway
Phagosome
Gap junction
Gene
(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K10395]
(CFEOM2) PHOX2A [HSA:401] [KO:K09330]
(CFEOM3A) TUBB3 [HSA:10381] [KO:K07375]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21217899 (description, gene)
  Authors
Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A
  Title
Congenital fibrosis of the extraocular muscles.
  Journal
Oman J Ophthalmol 3:70-4 (2010)
Reference
PMID:18214786 (description)
  Authors
Heidary G, Engle EC, Hunter DG
  Title
Congenital fibrosis of the extraocular muscles.
  Journal
Semin Ophthalmol 23:3-8 (2008)
Reference
PMID:20074521 (gene)
  Authors
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC
  Title
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
  Journal
Cell 140:74-87 (2010)

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