KEGG   DISEASE: 粘膜皮膚静脈奇形 (VMCM)
エントリ  
H02044                                                             
名称    
粘膜皮膚静脈奇形 (VMCM)
概要    
The multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which pathogenic variants are known to cause VMCM. TIE2 is vascular endothelial cell specific receptor tyrosine kinase, that plays a crucial role in angiogenesis and cardiovascular development.
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
  主に1つの体系に影響する構造的発達異常
   皮膚の構造的発達異常
    皮膚血管系の発達異常
     LC51  皮膚を含む発達性静脈奇形
      H02044  粘膜皮膚静脈奇形 (VMCM)
パスウェイ 
hsa04151  PI3K-Akt signaling pathway
hsa04066  HIF-1 signaling pathway
病因遺伝子 
TEK [HSA:7010] [KO:K05121]
リンク   
ICD-11: LC51
MeSH: C563977
OMIM: 600195
文献    
  著者
Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M
  タイトル
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
  雑誌
Nat Genet 41:118-24 (2009)
DOI:10.1038/ng.272
文献    
  著者
Boon LM, Vikkula M
  タイトル
Multiple Cutaneous and Mucosal Venous Malformations
  雑誌
GeneReviews (1993)
LinkDB    

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