Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy

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;

Détails

Origin ID

600142;

UMLS CUI

C1838577;

Currated CISMeF NLP mapping
- Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy [NCIt concept]
- CARASIL [Disease (Nov.)]
- CARASIL - [cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy] syndrome [ICD-11 Sub-sub category]
- CARASIL syndrome [MedDRA Preferred Term]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA LLT]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH Supplementary Concept]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH concept]
DO Cross reference
- CADASIL [DO Concept]
False automatic mappings
- CADASIL [DO Concept]
Genes related to phenotype
- Htra serine peptidase 1 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Alopecia [HPO term]
- Arteriosclerosis of small cerebral arteries [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Dementia [HPO term]
- Diffuse demyelination of the cerebral white matter [HPO term]
- Diffuse white matter abnormalities [HPO term]
- Dysarthria [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Leukoencephalopathy [HPO term]
- Low back pain [HPO term]
- Nystagmus [HPO term]
- Progressive encephalopathy [HPO term]
- Pseudobulbar signs [HPO term]
- Rigidity [HPO term]
- Spasticity [HPO term]
- Stroke [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy [NCIt concept]
- CARASIL [Disease (Nov.)]
- CARASIL syndrome [MedDRA Preferred Term]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA LLT]
- Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH Supplementary Concept]
- cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [MeSH concept]

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