Cerebral amyloid angiopathy, app-related

Preferred Label : Cerebral amyloid angiopathy, app-related;

CISMeF acronym : HCHWAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyloidosis, cerebroarterial, app-related; Cerebral amyloid angiopathy, app-related, italian variant; Cerebral amyloid angiopathy, app-related, arctic variant; Cerebral amyloid angiopathy, app-related, dutch variant; Amyloidosis, hereditary, with cerebral hemorrhage, dutch variant; Cerebral amyloid angiopathy, app-related, iowa variant; Cerebral amyloid angiopathy, app-related, flemish variant; HCHWAD;

Description : Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions, and progressive dementia. APP-related CAA is the most common form of CAA (Revesz et al., 2003, 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the amyloid precursor protein gene (APP, 104760.0001);

Prefixed ID : #605714;

Details

Origin ID

605714;

UMLS CUI

C2751536;

Automatic exact mappings (from CISMeF team)
- ABeta amyloidosis, Arctic type [ORDO Disease]
- ABeta amyloidosis, Iowa type [ORDO Disease]
- ABeta amyloidosis, Italian type [ORDO Disease]
- ABetaA21G amyloidosis [ORDO Disease]
- ABetaL34V amyloidosis [ORDO Disease]
Currated CISMeF NLP mapping
- ABeta amyloidosis, Dutch type [ORDO Disease]
- APP-related cerebral amyloid angiopathy [DO Concept]
- Amyloidosis, Cerebroarterial, App-Related [MeSH concept]
- Amyloidosis, Cerebroarterial, App-Related [MeSH Supplementary Concept]
- Cerebral Amyloid Angiopathy, APP-Related [NCIt concept]
- Hereditary cerebral amyloid angiopathy, Dutch type (disorder) [SNOMED CT concept]
- hereditary cerebral amyloid angiopathy, dutch type [SNOMED Notion]
DO Cross reference
- APP-related cerebral amyloid angiopathy [DO Concept]
Genes related to phenotype
- Amyloid beta a4 precursor protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebellar hemorrhage [HPO term]
- Cerebral amyloid angiopathy [HPO term]
- Cerebral ischemia [HPO term]
- Dementia [HPO term]
- Dementia, progressive, with onset of disease [HPO term]
- Recurrent cerebral hemorrhage [HPO term]
- Stroke [HPO term]
- Tortuous cerebral arteries [HPO term]
ORDO concept(s)
- ABeta amyloidosis, Arctic type [ORDO Disease]
- ABeta amyloidosis, Dutch type [ORDO Disease]
- ABeta amyloidosis, Iowa type [ORDO Disease]
- ABeta amyloidosis, Italian type [ORDO Disease]
- ABetaA21G amyloidosis [ORDO Disease]
- ABetaL34V amyloidosis [ORDO Disease]
- Hereditary cerebral hemorrhage with amyloidosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- APP-related cerebral amyloid angiopathy [DO Concept]
- Amyloidosis, Cerebroarterial, App-Related [MeSH Supplementary Concept]
- Cerebral Amyloid Angiopathy, APP-Related [NCIt concept]

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