| H00838 | |
| H番号 | H00838 |
| 名称 | 先天性外眼筋線維症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 9C82.2 ICD-10: H49.8 MeSH: C580012 OMIM: 135700 602078 600638 616219 |
| 文献 | PMID:21217899 著者 Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A タイトル Congenital fibrosis of the extraocular muscles. 雑誌 Oman J Ophthalmol 3:70-4 (2010) DOI:10.4103/0974-620X.64230 PMID:18214786 著者 Heidary G, Engle EC, Hunter DG タイトル Congenital fibrosis of the extraocular muscles. 雑誌 Semin Ophthalmol 23:3-8 (2008) DOI:10.1080/08820530701745181 PMID:20074521 著者 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 タイトル Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. 雑誌 Cell 140:74-87 (2010) DOI:10.1016/j.cell.2009.12.011 PMID:25500261 著者 Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N タイトル Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. 雑誌 Am J Hum Genet 96:147-52 (2015) DOI:10.1016/j.ajhg.2014.11.006 |