" /> Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy - CISMeF





Preferred Label : Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy;

Symbol : CARASIL;

CISMeF acronym : CARASIL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Subcortical vascular encephalopathy, progressive; Cerebrovascular disease with thin skin, alopecia, and disc disease; Maeda syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HTRA serine peptidase 1 gene (HTRA1, 602194.0002);

Prefixed ID : #600142;

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27/07/2025


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