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CARASIL syndrome

Disease Summary
Associated Targets (2)
Tchem

2


GARD Rare
Mondo Description CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.
Uniprot Description A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers.
Disease Ontology Description A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment.
Mondo Term and Equivalent IDs
MONDO:0010829:  CARASIL syndrome
DOID:13945: CADASIL
GARD:0010424: 
MESH:C563990: 
Orphanet:199354: 
SCTID:703219008: 
UMLS:C1838577: