ABeta amyloidosis, Italian type
Findings
No curated finding names ABeta amyloidosis, Italian type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage.
Definition from the Mondo Disease Ontology (MONDO:0017947), read 2026-09-29. CC BY 4.0.
Features
7 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.
- Cerebral hemorrhageHPOHP:0001342
- Very frequent (80% to 99% of cases)
- MigraineHPOHP:0002076
- Very frequent (80% to 99% of cases)
- StrokeHPOHP:0001297
- Very frequent (80% to 99% of cases)
- ComaHPOHP:0001259
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- Mental deteriorationHPOHP:0001268
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: ABeta amyloidosis, Italian type
- Also called
- ABetaE22K amyloidosiscerebral amyloid angiopathy, APP-related, Italian variantHCHWA, Italian typehereditary cerebral haemorrhage with amyloidosis, Italian typehereditary cerebral hemorrhage with amyloidosis, Italian type