KEGG   DISEASE: Basan 症候群
エントリ  
H02296                                                             
名称    
Basan 症候群;
皮膚紋理を欠く外胚葉異形成症
概要    
Basan syndrome is a rare autosomal dominant ectodermal dysplasia, characterized by rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Other phenotypes include contractures of digits, hypohidrosis, palmoplantar keratoderma, and nail dystrophy. A mutation in the SMARCAD1 gene was recently reported to cause Basan syndrome.
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
    H02296  Basan 症候群
パスウェイ 
hsa04550  Signaling pathways regulating pluripotency of stem cells
病因遺伝子 
SMARCAD1 [HSA:56916] [KO:K14439]
リンク   
ICD-11: LD27.0Y
MeSH: C537659
OMIM: 129200
文献    
  著者
Li M, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z
  タイトル
Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.
  雑誌
Eur J Hum Genet 24:1367-70 (2016)
DOI:10.1038/ejhg.2016.15
文献    
  著者
Marks KC, Banks WR 3rd, Cunningham D, Witman PM, Herman GE
  タイトル
Analysis of two candidate genes for Basan syndrome.
  雑誌
Am J Med Genet A 164A:1188-91 (2014)
DOI:10.1002/ajmg.a.36438
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