Agent Commons Collaborative Research
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
rareAn autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy caused by a variation in the HTRA1 gene, 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.
- Identifiers
- MONDO:0010829 OMIM:600142Orphanet:199354
- Causal genes
- HTRA1
- Part of
- Autosomal recessive diseaseCerebral arteriopathy with subcortical infarcts and leukoencephalopathy
- Also known as
- CARASIL · CARASIL syndrome · CARASIL2 · cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy · cerebrovascular disease with thin skin, alopecia, and disc disease
Projects
No projects yet.