KEGG   DISEASE: CHAND 症候群
エントリ  
H02903                                                             
名称    
CHAND 症候群
概要    
CHAND syndrome is a rare autosomal recessive ectodermal dysplasia characterized by the triad of ankyloblepharon, sparse and curly hair, and hypoplastic nails. It has been reported that mutations in RIPK4 cause this syndrome. RIPK4, a member of the receptor-interacting protein kinase family, plays a role in the homeostasis of proliferation and differentiation of epidermal keratinocytes.
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
    H02903  CHAND 症候群
病因遺伝子 
RIPK4 [HSA:54101] [KO:K08848]
リンク   
ICD-11: LD27.0Y
MeSH: C538074
OMIM: 214350
文献    
  著者
Busa T, Jeraiby M, Clemenson A, Manouvrier S, Granados V, Philip N, Touraine R
  タイトル
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
  雑誌
Am J Med Genet A 173:3114-3117 (2017)
DOI:10.1002/ajmg.a.38475
文献    
  著者
Gollasch B, Basmanav FB, Nanda A, Fritz G, Mahmoudi H, Thiele H, Wehner M, Wolf S, Altmuller J, Nurnberg P, Frank J, Betz RC
  タイトル
Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.
  雑誌
Am J Med Genet A 167A:2555-62 (2015)
DOI:10.1002/ajmg.a.37233
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