Alzheimer disease 3
MONDO:0011913Mondo
Findings
No curated finding names Alzheimer disease 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011913), read 2026-09-29. CC BY 4.0.
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PSEN1HGNC:9508
- Strong · Ambry Genetics · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
12 names
Resolves to: Alzheimer disease 3
- Also called
- AD3Alzheimer disease type 3Alzheimer disease, protection against, due to APOE3-ChristchurchAlzheimer disease, type 3Alzheimer disease, type 3, with spastic paraparesis and apraxiaAlzheimer disease, type 3, with spastic paraparesis and unusual plaquesAlzheimer's disease 3Alzheimer's disease type 3early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1familial Alzheimer disease, type 3familial Alzheimer's disease, type 3PSEN1 early-onset autosomal dominant Alzheimer disease