KEGG   DISEASE: Baraitser-Winter 症候群
エントリ  
H02023                                                             
名称    
Baraitser-Winter 症候群
概要    
Baraitser-Winter malformation syndrome (BWMS) is characterized by short stature, hypertelorism, bilateral ptosis, ocular coloboma, metopic ridging and agyria/pachygyria. Recently, it has been reported that BWMS is associated with missense mutations in one of the two cytoplasmic beta- and gamma- actin encoding genes ACTB and ACTG1.
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
    H02023  Baraitser-Winter 症候群
パスウェイ 
hsa04810  Regulation of actin cytoskeleton
hsa04510  Focal adhesion
病因遺伝子 
(BRWS1) ACTB [HSA:60] [KO:K05692]
(BRWS2) ACTG1 [HSA:71] [KO:K05692]
リンク   
ICD-11: LD2F.1Y
ICD-10: Q87.0
OMIM: 243310 614583
文献    
  著者
Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K, Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenco CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Riviere JB, Dobyns WB, Pilz DT
  タイトル
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
  雑誌
Eur J Hum Genet 23:292-301 (2015)
DOI:10.1038/ejhg.2014.95

» English version

DBGET integrated database retrieval system