Cerebral amyloid angiopathy, cst3-related

Preferred Label : Cerebral amyloid angiopathy, cst3-related;

CISMeF acronym : HCHWA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hereditary cerebral hemorrhage with amyloidosis; Amyloidosis VI; Amyloidosis, cerebroarterial, icelandic type; Cerebral hemorrhage, hereditary, with amyloidosis; HCHWA;

Description : Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the cystatin C gene (CST3, 604312.0001);

Laboratory abnormalities : Generalized amyloid deposition; Abnormally low cerebrospinal fluid cystatin C;

Prefixed ID : #105150;

Détails

Origin ID

105150;

UMLS CUI

C1527338;

Currated CISMeF NLP mapping
- ACys amyloidosis [ORDO Disease]
- CST3-related cerebral amyloid angiopathy [DO Concept]
- Hereditary cerebral amyloid angiopathy, Icelandic type (disorder) [SNOMED CT concept]
- Hereditary cerebral hemorrhage with amyloidosis [ORDO Disease]
- Hereditary cerebral hemorrhage with amyloidosis (disorder) [SNOMED CT concept]
- cerebral amyloid angiopathy [DO Concept]
- cerebral amyloid angiopathy, familial [MeSH Descriptor]
- cerebral amyloid angiopathy, hereditary [MeSH concept]
DO Cross reference
- CST3-related cerebral amyloid angiopathy [DO Concept]
Genes related to phenotype
- Cystatin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral hemorrhage [HPO term]
- Dementia [HPO term]
- Generalized amyloid deposition [HPO term]
- Intracranial hemorrhage [HPO term]
- Stroke [HPO term]
ORDO concept(s)
- ACys amyloidosis [ORDO Disease]
- Hereditary cerebral hemorrhage with amyloidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ACys amyloidosis [ORDO Disease]
- CST3-related cerebral amyloid angiopathy [DO Concept]
- Hereditary cerebral amyloid angiopathy, Icelandic type (disorder) [SNOMED CT concept]
- Hereditary cystatin C amyloid angiopathy (disorder) [SNOMED CT concept]
- hereditary cerebral amyloid angiopathy, icelandic type [SNOMED Notion]
- hereditary cerebral amyloid angiopathy, icelandic type [MeSH concept]

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

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