KEGG   DISEASE: Blepharocheilodontic 症候群
エントリ  
H02474                                                             
名称    
Blepharocheilodontic 症候群
概要    
Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant disorder characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by mutations in CDH1 and CTNND1. They are members of the cadherin-catenin complex.
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
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H02474  Blepharocheilodontic 症候群
パスウェイ 
hsa04520  Adherens junction
hsa04015  Rap1 signaling pathway
病因遺伝子 
(BCDS1) CDH1 [HSA:999] [KO:K05689]
(BCDS2) CTNND1 [HSA:1500] [KO:K05690]
リンク   
ICD-11: LD27.0Y
MeSH: C536188
OMIM: 119580 617681
文献    
PMID:28301459
  著者
Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S
  タイトル
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
  雑誌
Genet Med 19:1013-1021 (2017)
DOI:10.1038/gim.2017.11
文献    
PMID:29348693
  著者
Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G
  タイトル
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
  雑誌
Eur J Hum Genet 26:210-219 (2018)
DOI:10.1038/s41431-017-0010-5
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