| H00536 | |
| H number | H00536 |
| 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 |
| Network | - |
| Gene | NOTCH3 [HSA:4854] [KO:K20995] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8B22.C0 ICD-10: F01.1 I67.3 OMIM: 125310 |
| 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 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 |