KEGG DISEASE: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

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

(CADASIL1) NOTCH3 [HSA:4854] [KO:K20995]
(CADASIL2) HTRA1 [HSA:5654] [KO:K08784]

Other DBs

ICD-11:

8B22.C0

OMIM:

125310 616779

Reference

PMID:16379592

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

PMID:20967782

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

Reference

PMID:8878478 (CADASIL1)

Authors

Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cecillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E

Title

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.

Journal

Nature 383:707-10 (1996)
DOI:10.1038/383707a0

Reference

PMID:26063658 (CADASIL2)

Authors

Verdura E, Herve D, Scharrer E, Amador Mdel M, Guyant-Marechal L, Philippi A, Corlobe A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E

Title

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Journal

Brain 138:2347-58 (2015)
DOI:10.1093/brain/awv155

LinkDB

» Japanese version

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