Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

Preferred Label : Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2;

Symbol : CADASIL2;

CISMeF acronym : CADASIL2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

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

Prefixed ID : #616779;

Détails

Origin ID

616779;

UMLS CUI

C4225211;

Currated CISMeF NLP mapping
- CADASIL 2 [DO Concept]
- HTRA1-related autosomal dominant cerebral small vessel disease [ORDO Disease]
DO Cross reference
- CADASIL 2 [DO Concept]
Genes related to phenotype
- Htra serine peptidase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dementia [HPO term]
- Dilation of Virchow-Robin spaces [HPO term]
- Gait disturbance [HPO term]
- Headache [HPO term]
- Hyperintensity of cerebral white matter on MRI [HPO term]
- Mental deterioration [HPO term]
- Recurrent subcortical infarcts [HPO term]
- Seizure [HPO term]
- Status cribrosum [HPO term]
- Stroke [HPO term]
- Transient ischemic attack [HPO term]
ORDO concept(s)
- HTRA1-related autosomal dominant cerebral small vessel disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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