KEGG   DISEASE: FDLAB 症候群
エントリ  
H02255                                                             
名称    
FDLAB 症候群;
Traboulsi 症候群
概要    
Facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs (FDLAB) syndrome, also known as Traboulsi syndrome, is an autosomal recessive disorder. FDLAB syndrome is caused by mutations in ASPH that encodes aspartyl/asparaginyl beta-hydroxylase.
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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02255  FDLAB 症候群
病因遺伝子 
ASPH [HSA:444] [KO:K00476]
リンク   
ICD-11: LD2F.1Y
OMIM: 601552
文献    
  著者
Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Megarbane A, Traboulsi EI, Alkuraya FS
  タイトル
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
  雑誌
Am J Hum Genet 94:755-9 (2014)
DOI:10.1016/j.ajhg.2014.04.002
文献    
  著者
Mansour AM, Younis MH, Dakroub RH
  タイトル
Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism.
  雑誌
Case Rep Ophthalmol 4:84-90 (2013)
DOI:10.1159/000350951
LinkDB    

» English version

DBGET integrated database retrieval system