H01757 | |
H number | H01757 |
Name | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; CARASIL |
Description | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel disease with early adulthood onset subcortical infarcts, progressive motor and cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. It has been found that CARASIL is associated with mutations in the HTRA1 gene encoding HtrA serine protease 1. |
Category | Congenital malformation |
Network | - |
Gene | HTRA1 [HSA:5654] [KO:K08784] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 8B22.C1 ICD-10: F01.1 MeSH: C563990 OMIM: 600142 |
Reference | PMID:25712943 AUTHORS Menezes Cordeiro I, Nzwalo H, Sa F, Ferreira RB, Alonso I, Afonso L, Basilio C TITLE Shifting the CARASIL paradigm: report of a non-Asian family and literature review. JOURNAL Stroke 46:1110-2 (2015) DOI:10.1161/STROKEAHA.114.006735 PMID:22900900 AUTHORS Wang XL, Li CF, Guo HW, Cao BZ TITLE A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree. JOURNAL CNS Neurosci Ther 18:867-9 (2012) DOI:10.1111/j.1755-5949.2012.00373.x |