APP-related brain and vascular amyloidosis
Findings
No curated finding names APP-related brain and vascular amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:1060190), read 2026-09-29. CC BY 4.0.
Where it sits
- Narrower terms (2)