KEGG   DISEASE: 紅斑角皮症を伴う魚鱗癬
エントリ  
H02781                                                             
名称    
紅斑角皮症を伴う魚鱗癬
概要    
Ichthyosis with erythrokeratoderma (IEKD) is an autosomal dominant cornification disorder. It has been reported that KLK11 belongs to the kallikrein-related peptidase family associated with skin desquamation by degrading corneodesmosomes, which is essential for stratum corneum exfoliation.
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
    H02781  紅斑角皮症を伴う魚鱗癬
病因遺伝子 
KLK11 [HSA:11012] [KO:K09620]
リンク   
ICD-11: LD27.2
OMIM: 620507
文献    
  著者
Gong Z, Dai S, Jiang X, Lee M, Zhu X, Wang H, Lin Z
  タイトル
Variants in KLK11, affecting signal peptide cleavage of kallikrein-related peptidase 11, cause an autosomal-dominant cornification disorder.
  雑誌
Br J Dermatol 188:100-111 (2023)
DOI:10.1093/bjd/ljac029
文献    
  著者
Takeichi T, Ito Y, Lee JYW, Murase C, Okuno Y, Muro Y, McGrath JA, Akiyama M
  タイトル
KLK11 ichthyosis: large truncal hyperkeratotic pigmented plaques underscore a distinct autosomal dominant disorder of cornification.
  雑誌
Br J Dermatol 189:134-136 (2023)
DOI:10.1093/bjd/ljad082
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