Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Preferred Label : Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1;

Symbol : CADASIL1;

CISMeF acronym : CADASIL; CADASIL1; CASIL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dementia, hereditary multiinfarct type; CASIL; CADASIL;

Description : Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant progressive disorder of the small arterial vessels of the brain manifest by migraine, strokes, and white matter lesions, with resultant cognitive impairment in some patients (review by Kalimo et al., 1999).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the homolog of the Drosophila Notch 3 gene (NOTCH3, 600276.0001).;

Prefixed ID : #125310;

Détails

Origin ID

125310;

UMLS CUI

C4551768;

Currated CISMeF NLP mapping
- CADASIL [MedDRA Preferred Term]
- CADASIL [MeSH Descriptor]
- CADASIL [MeSH concept]
- CADASIL [Radlex concept]
- CADASIL [MedDRA LLT]
- CADASIL - [cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy] syndrome [ICD-11 Sub-sub category]
- CADASIL 1 [DO Concept]
- CADASIL Syndrome [NCIt concept]
- CADASIL syndrome [PASCAL descriptor]
- CADASIL syndrome [Disease (Nov.)]
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA Preferred Term]
DO Cross reference
- CADASIL 1 [DO Concept]
Genes related to phenotype
- Notch receptor 3 [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Abnormality of the skin [HPO term]
- Abnormality of visual evoked potentials [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Gait disturbance [HPO term]
- Leukoencephalopathy [HPO term]
- Migraine [HPO term]
- Nonarteritic anterior ischemic optic neuropathy [HPO term]
- Peripheral neuropathy [HPO term]
- Pseudobulbar paralysis [HPO term]
- Recurrent subcortical infarcts [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- Subcortical dementia [HPO term]
- Urinary incontinence [HPO term]
- Varicose veins [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
See also inter- (CISMeF)
- NOTCH3 wt Allele [NCIt concept]
- notch receptor 3 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CADASIL [MeSH Descriptor]
- CADASIL [MeSH concept]
- CADASIL [MedDRA LLT]
- CADASIL [Radlex concept]
- CADASIL [DO Concept]
- CADASIL Syndrome [NCIt concept]
- CADASIL syndrome [PASCAL descriptor]
- CADASIL syndrome [Disease (Nov.)]
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (disorder) [SNOMED CT concept]
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]
- cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [MedDRA Preferred Term]
Validated automatic mappings to NTBT
- CADASIL [DO Concept]
- Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy [ORDO Disease]

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