ABetaL34V amyloidosis
Findings
No curated finding names ABetaL34V amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
Definition from the Mondo Disease Ontology (MONDO:0017945), read 2026-09-29. CC BY 4.0.
Features
11 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)
- ComaHPOHP:0001259
- Very frequent (80% to 99% of cases)
- DementiaHPOHP:0000726
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- ParesthesiaHPOHP:0003401
- Very frequent (80% to 99% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
- Very frequent (80% to 99% of cases)
- StrokeHPOHP:0001297
- Very frequent (80% to 99% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- MigraineHPOHP:0002076
- 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: ABetaL34V amyloidosis
- Also called
- ABeta amyloidosis, Piedmont typeABetaL34V-related amyloidosisHCHWA, Piedmont typehereditary cerebral haemorrhage with amyloidosis, Piedmont typehereditary cerebral hemorrhage with amyloidosis, Piedmont type