KEGG   DISEASE: デュアン眼球後退症候群
エントリ  
H00633                                                             
名称    
デュアン眼球後退症候群
概要    
Duane retraction syndrome (DRS) is a congenital disorder of eye movement that occurs in approximately 1 in 50 patients with strabismus. This condition prevents horizontal eye movement, with absence of outward movement and deficiency of inward movement. Normal ocular motility depends on precise relations between cranial motor neurons and their target, extraocular muscles. In DRS patients, absence of the abducens motor neurons and aberrant innervation of extraocular muscles by third cranial nerve have been reported.
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
    H00633  デュアン眼球後退症候群
病因遺伝子 
(DURS2) CHN1 [HSA:1123] [KO:K20630]
(DURS3) MAFB [HSA:9935] [KO:K09036]
リンク   
ICD-11: 9C82.2
MeSH: D004370
OMIM: 604356 617041
文献    
  著者
Yuksel D, Orban de Xivry JJ, Lefevre P
  タイトル
Review of the major findings about Duane retraction syndrome (DRS) leading to an updated form of classification.
  雑誌
Vision Res 50:2334-47 (2010)
DOI:10.1016/j.visres.2010.08.019
文献    
PMID:18653847 (CHN1)
  著者
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan WM, Law K, Crosier M, Lindsay S, Cheung M, Allen J, Gutowski NJ, Ellard S, Young E, Iannaccone A, Appukuttan B, Stout JT, Christiansen S, Ciccarelli ML, Baldi A, Campioni M, Zenteno JC, Davenport D, Mariani LE, Sahin M, Guthrie S, Engle EC
  タイトル
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
  雑誌
Science 321:839-43 (2008)
DOI:10.1126/science.1156121
文献    
PMID:27181683 (MAFB)
  著者
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan WM, Maconachie G, Bosley TM, Summers CG, Hunter DG, Robson CD, Gottlob I, Engle EC
  タイトル
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
  雑誌
Am J Hum Genet 98:1220-1227 (2016)
DOI:10.1016/j.ajhg.2016.03.023
LinkDB    

» English version

DBGET integrated database retrieval system