cerebral amyloid angiopathy, APP-related
Findings
No curated finding names cerebral amyloid angiopathy, APP-related yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.
Definition from the Mondo Disease Ontology (MONDO:0011583), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset
HPO, annotations 2026-09-02
Features
8 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.
- Cerebellar hemorrhageHPOHP:0011695
- 4 of 4 reported patients
- Cerebral amyloid angiopathyHPOHP:0011970
- 1 of 1 reported patient
- StrokeHPOHP:0001297
- 4 of 4 reported patients
- Recurrent cerebral hemorrhageHPOHP:0004968
- 3 of 4 reported patients
- DementiaHPOHP:0000726
- 1 of 4 reported patients
- ParesthesiaHPOHP:0003401
- 1 of 4 reported patients
- Subarachnoid hemorrhageHPOHP:0002138
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.
- APPHGNC:620
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: cerebral amyloid angiopathy, APP-related
- Also called
- amyloidosis, Cerebroarterial, APP-relatedcerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variantsHCHWAD