KEGG   DISEASE: H00536Help
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
Developmental disorder; Vascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
Human diseases in ICD-10 classification [BR:br08403]
 5. Mental and behavioural disorders (F00-F99)
  F00-F09  Organic, including symptomatic, mental disorders
   F01  Vascular dementia
    H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
 9. Diseases of the circulatory system (I00-I99)
  I60-I69  Cerebrovascular diseases
   I67  Other cerebrovascular diseases
    H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
BRITE hierarchy
Pathway
Notch signaling pathway
Gene
NOTCH3 [HSA:4854] [KO:K02599]
Other DBs
ICD-10: 
OMIM: 
Reference
PMID:16379592 (description, gene)
  Authors
Wang QK
  Title
Update on the molecular genetics of vascular anomalies.
  Journal
Lymphat Res Biol 3:226-33 (2005)
Reference
PMID:20967782 (description, gene)
  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)

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