| H00838 | |
| H number | H00838 |
| 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 |
| Network | - |
| Gene | (CFEOM1, CFEOM3B) KIF21A [HSA:55605] [KO:K24185] (CFEOM2) PHOX2A [HSA:401] [KO:K09330] (CFEOM3A) TUBB3 [HSA:10381] [KO:K07375] (CFEOM5) COL25A1 [HSA:84570] [KO:K24356] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C82.2 ICD-10: H49.8 MeSH: C580012 OMIM: 135700 602078 600638 616219 |
| Reference | PMID:21217899 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 PMID:18214786 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 PMID:20074521 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 PMID:25500261 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 |