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A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.
Features include always present findings: Stroke, Cerebral amyloid angiopathy, and Cerebellar hemorrhage; and common findings: Recurrent cerebral hemorrhage. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 7 | Stroke, Paresthesia, Cerebral amyloid angiopathy |
Heart and blood vessels | 2 | Stroke, Subarachnoid hemorrhage |
APP encodes amyloid beta precursor protein (770 aa). Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Highest expression in Brain Frontal Cortex BA9 (561.1 TPM) and Thyroid (502.1 TPM).
Cerebral amyloid angiopathy, APP-related is caused by mutations in the APP gene on chromosome 21.
APP is classified as a druggable target (Cell Surface, Druggable Genome, External Side Of Plasma Membrane, and Protease Inhibitor categories) with score 3.2.
Genetic testing for APP is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 always present features, 1 common feature.
No clinical trials have been registered for cerebral amyloid angiopathy, APP-related.
6 publications have been identified in PubMed for cerebral amyloid angiopathy, APP-related. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).
You J (2026). [PMID: 42148080](https://pubmed.ncbi.nlm.nih.gov/42148080/). *Front Immunol*. [Basic Science / Preclinical]
Valay L (2025). [PMID: 41137626](https://pubmed.ncbi.nlm.nih.gov/41137626/). *Alzheimers Dement*. [Review / Meta-Analysis]
Schipper MR (2025). [PMID: 40209571](https://pubmed.ncbi.nlm.nih.gov/40209571/). *Neuroimage Clin*. [Epidemiology / Natural History]
Xu G (2025). [PMID: 40962157](https://pubmed.ncbi.nlm.nih.gov/40962157/). *Neurobiol Dis*. [Basic Science / Preclinical]
Gu H (2024). [PMID: 39412896](https://pubmed.ncbi.nlm.nih.gov/39412896/). *Environ Health Perspect*. [Basic Science / Preclinical]
Grenon MB (2024). [PMID: 38891941](https://pubmed.ncbi.nlm.nih.gov/38891941/). *Int J Mol Sci*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
Online Mendelian Inheritance in Man
AI-curated news mentioning cerebral amyloid angiopathy, APP-related
Updated Aug 31, 2026
A recent study identifies distinct characteristics and risk factors associated with symptomatic and incidental diffusion-weighted imaging (DWI) lesions in cerebral amyloid angiopathy. This research enhances understanding of the disease's clinical presentation and potential management strategies.
A recent study investigates the relationship between brain iron levels, cortical atrophy, and cognitive impairment in cerebral amyloid angiopathy. The findings utilize quantitative susceptibility mapping to enhance understanding of this condition.
A recent study investigates the relationship between amyloid PET burden, cerebrospinal fluid biomarkers, and APOE genotype in individuals with both iatrogenic and sporadic cerebral amyloid angiopathy. The findings contribute to understanding the underlying mechanisms of this condition.