KEGG   DISEASE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
Entry
H00536                      Disease                                
Name
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
Description
CADASIL is a chronic cerebrovascular disorder characterized by recurrent ischemic attacks and frequent migraines associated with diffuse white-matter abnormalities. CADASIL is caused by mutations in the NOTCH3 gene.
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
    H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06511  NOTCH signaling
   H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
Pathway
hsa04330  Notch signaling pathway
Network
nt06511 NOTCH signaling
Gene
NOTCH3 [HSA:4854] [KO:K20995]
Other DBs
ICD-11: 8B22.C0
ICD-10: F01.1 I67.3
OMIM: 125310
Reference
  Authors
Wang QK
  Title
Update on the molecular genetics of vascular anomalies.
  Journal
Lymphat Res Biol 3:226-33 (2005)
DOI:10.1089/lrb.2005.3.226
Reference
  Authors
Joutel A
  Title
Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.
  Journal
Bioessays 33:73-80 (2011)
DOI:10.1002/bies.201000093
LinkDB

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