KEGG   DISEASE: Congenital fibrosis of the extraocular musclesHelp
Entry
H00838                      Disease                                

Name
Congenital fibrosis of the extraocular muscles
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. Several clinical phenotypes for familial CFEOM have been delineated.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00838  Congenital fibrosis of the extraocular muscles
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Strabismus or ocular motility
   9C82  Disorders of extraocular muscles
    H00838  Congenital fibrosis of the extraocular muscles
BRITE hierarchy
Pathway
hsa04145  Phagosome
hsa04540  Gap junction
Gene
(CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K10395]
(CFEOM2) PHOX2A [HSA:401] [KO:K09330]
(CFEOM3A) TUBB3 [HSA:10381] [KO:K07375]
(CFEOM5) COL25A1 [HSA:84570]
Other DBs
ICD-11: 9C82.2
ICD-10: H49.8
MeSH: C580012
OMIM: 135700 602078 600638 616219
Reference
  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)
DOI:10.4103/0974-620X.64230
Reference
  Authors
Heidary G, Engle EC, Hunter DG
  Title
Congenital fibrosis of the extraocular muscles.
  Journal
Semin Ophthalmol 23:3-8 (2008)
DOI:10.1080/08820530701745181
Reference
  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)
DOI:10.1016/j.cell.2009.12.011
Reference
  Authors
Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N
  Title
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
  Journal
Am J Hum Genet 96:147-52 (2015)
DOI:10.1016/j.ajhg.2014.11.006

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