KEGG   DISEASE: Arteriovenous malformations of the brain
Entry
H02845                      Disease                                
Name
Arteriovenous malformations of the brain
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Cerebrovascular diseases
   8B22  Certain specified cerebrovascular diseases
    H02845  Arteriovenous malformations of the brain
Gene
KRAS [HSA:3845] [KO:K07827]
Other DBs
ICD-11: 8B22.40
MeSH: D002538
OMIM: 108010
Reference
  Authors
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
  Title
Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.
  Journal
N Engl J Med 378:250-261 (2018)
DOI:10.1056/NEJMoa1709449
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