KEGG   DISEASE: 先天性外眼筋線維症
エントリ  
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
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  斜視または眼球運動障害
   9C82  外眼筋の疾患
    H00838  先天性外眼筋線維症
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06515  キネトコア-微小管相互作用の制御
   H00838  先天性外眼筋線維症
  nt06541  神経細胞の細胞骨格
   H00838  先天性外眼筋線維症
パスウェイ 
hsa04145  Phagosome
hsa04540  Gap junction
ネットワーク
nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons
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]
リンク   
ICD-11: 9C82.2
MeSH: C580012 C566587 C567572 C567739
OMIM: 135700 602078 600638 616219
文献    
  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
文献    
PMID:18214786 (CFEOM1/2/3B)
  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
文献    
PMID:20074521 (CFEOM3A)
  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
文献    
PMID:25500261 (CFEOM5)
  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
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