KEGG   DISEASE: 脳の動静脈奇形
エントリ  
H02845                                                             
名称    
脳の動静脈奇形
概要    
Arteriovenous malformations of the brain are morphologically abnormal connections between arteries and veins in the brain vasculature. They are leading causes of hemorrhagic stroke in young adults and children. It has been reported that somatic activating KRAS mutations cause this disease. It is proposed that these malformations develop as a result of KRAS-induced activation of the MAPK-ERK signaling pathway in brain endothelial cells.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 08 神経系の疾患
  脳血管疾患
   8B22  明示された脳血管疾患
    H02845  脳の動静脈奇形
病因遺伝子 
KRAS [HSA:3845] [KO:K07827]
リンク   
ICD-11: 8B22.40
MeSH: D002538
OMIM: 108010
文献    
PMID:29298116
  著者
Nikolaev SI, Vetiska S, Bonilla X, Boudreau E, Jauhiainen S, Rezai Jahromi B, Khyzha N, DiStefano PV, Suutarinen S, Kiehl TR, Mendes Pereira V, Herman AM, Krings T, Andrade-Barazarte H, Tung T, Valiante T, Zadeh G, Tymianski M, Rauramaa T, Yla-Herttuala S, Wythe JD, Antonarakis SE, Frosen J, Fish JE, Radovanovic I
  タイトル
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.
  雑誌
N Engl J Med 378:250-261 (2018)
DOI:10.1056/NEJMoa1709449
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