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cerebral amyloid angiopathy, APP-related

Disease Summary
Associated Targets (4)
Tbio

2

Tclin

1

Tchem

1


Mondo Description A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.
Uniprot Description A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications.
Disease Ontology Description A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.
Mondo Term and Equivalent IDs
MONDO:0011583:  cerebral amyloid angiopathy, APP-related
UMLS:C2751494: 
UMLS:C2751536: 
UMLS:C3888307: 
UMLS:C3888308: 
UMLS:C3888309: