APP-related brain and vascular amyloidosis
A hereditary amyloidosis characterized by a spectrum of neurodegenerative and neurovascular phenotypes caused by pathogenic variant in the APP gene, resulting in an abnormal clearance of amyloid peptides, either by overproduction and decreased clearance of amyloid peptides, with deposition of amyloid in plaques and blood vessel walls. Affected individuals may present with progressive cognitive decline, cerebral vascular amyloidosis with white matter changes, and stroke with or without hemorrhage.
MONDO:0011057
cerebrovascular disorder
is_a
MONDO:0018634
hereditary amyloidosis
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
APP-related brain and vascular amyloidosis
exact