KEGG   DISEASE: 小角膜・近視性網脈絡膜萎縮および眼角隔離
エントリ  
H02445                                                             
名称    
小角膜・近視性網脈絡膜萎縮および眼角隔離
概要    
Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in extracellular matrix remodeling. It is suggested that ADAMTS18 plays an essential role in early eye development.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD21  主な特徴として眼の異常を伴う症候群
    H02445  小角膜・近視性網脈絡膜萎縮および眼角隔離
病因遺伝子 
ADAMTS18 [HSA:170692] [KO:K08632]
リンク   
ICD-11: LD21.Y
MeSH: C537551
OMIM: 615458
文献    
  著者
Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS
  タイトル
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
  雑誌
Hum Mutat 34:1195-9 (2013)
DOI:10.1002/humu.22374
文献    
  著者
Khan AO
  タイトル
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome.
  雑誌
Ophthalmic Genet 33:196-9 (2012)
DOI:10.3109/13816810.2012.681097
LinkDB    

» English version

DBGET integrated database retrieval system