Alzheimer disease 4
Findings
No curated finding names Alzheimer disease 4 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 PSEN2 gene.
Definition from the Mondo Disease Ontology (MONDO:0011743), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ApathyHPOHP:0000741
- 1 of 1 reported patient
- Cerebral amyloid angiopathyHPOHP:0011970
- 4 of 4 reported patients · Late onset
- DementiaHPOHP:0000726
- 3 of 5 reported patients · Middle age onset
- 1 of 1 reported patient
- 1 of 2 reported patients
- Memory impairmentHPOHP:0002354
- 2 of 5 reported patients · Middle age onset
- 1 of 1 reported patient
- 2 of 2 reported patients
- Temporal cortical atrophyHPOHP:0007112
- 1 of 1 reported patient
- Alzheimer diseaseHPOHP:0002511
Show the remaining 5
- Generalized-onset seizureHPOHP:0002197
- 1 of 3 reported patients
- Cognitive impairmentHPOHP:0100543
- Neurofibrillary tanglesHPOHP:0002185
- Parietal hypometabolism in FDG PETHPOHP:0012662
- Senile plaquesHPOHP:0100256
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.
- PSEN2HGNC:9509
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
7 names
Resolves to: Alzheimer disease 4
- Also called
- AD4Alzheimer disease type 4Alzheimer disease-4Alzheimer's disease 4Alzheimer's disease type 4familial Alzheimer disease, type 4familial Alzheimer's disease, type 4