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An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.
Features include always present findings: Neurofibrillary tangles. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Parkinsonism, Progressive loss of mental abilities (dementia) |
APOE encodes apolipoprotein E (317 aa). APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids. Highest expression in Adrenal Gland (3,543 TPM) and Liver (3,182 TPM).
Alzheimer disease 2 is associated with mutations in the APOE gene on chromosome 19.
APOE is classified as a druggable target (Druggable Genome category) with score 0.9.
Genetic testing for APOE is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
5 clinical trials registered, 2 recruiting. Interventions under study include other interventions, drug therapy, medical devices, and gene therapy. Pipeline includes 1 PHASE2, 1 NA. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT05637801](https://clinicaltrials.gov/study/NCT05637801) |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:31 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Alzheimer disease 2
A Pivotal Study of Sensory Stimulation in Alzheimer's Disease (HOPE Study) |
NA |
Cognito Therapeutics, Inc. |
UNKNOWN |
[NCT00064870](https://clinicaltrials.gov/study/NCT00064870) | Alzheimer's Disease Genetics Study | — | Indiana University | UNKNOWN |
[NCT05010603](https://clinicaltrials.gov/study/NCT05010603) | Late Onset Alzheimer's Disease | — | Columbia University | RECRUITING |
[NCT04838301](https://clinicaltrials.gov/study/NCT04838301) | Allopregnanolone Regenerative Therapeutic for Mild Alzheimer's Disease | PHASE2 | University of Arizona | ACTIVE_NOT_RECRUITING |
[NCT04579120](https://clinicaltrials.gov/study/NCT04579120) | Neuroimaging in Healthy Aging and Senile Dementia (HASD_IND) | — | Tammie L. S. Benzinger, MD, PhD | RECRUITING |
5 publications have been identified in PubMed for Alzheimer disease 2. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).
Yu J (2026). [PMID: 41348440](https://pubmed.ncbi.nlm.nih.gov/41348440/). *Diabetes care*. [Epidemiology / Natural History]
Topol E (2025). [PMID: 40440380](https://pubmed.ncbi.nlm.nih.gov/40440380/). *Science (New York, N.Y.)*. [Review / Meta-Analysis]
Ramsden CE (2025). [PMID: 40568659](https://pubmed.ncbi.nlm.nih.gov/40568659/). *medRxiv : the preprint server for health sciences*. [Basic Science / Preclinical]
Pluta R (2025). [PMID: 39686609](https://pubmed.ncbi.nlm.nih.gov/39686609/). *Journal of Alzheimer's disease : JAD*. [Basic Science / Preclinical]
Rubin R (2024). [PMID: 38941115](https://pubmed.ncbi.nlm.nih.gov/38941115/). *JAMA*. [Case Report / Case Series]