ABeta amyloidosis, Arctic type
Findings
No curated finding names ABeta amyloidosis, Arctic 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), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.
Definition from the Mondo Disease Ontology (MONDO:0017949), read 2026-09-29. CC BY 4.0.
Features
2 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.
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- Very frequent (80% to 99% 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, Arctic type
- Also called
- ABetaE22G amyloidosiscerebral amyloid angiopathy, APP-related, Arctic variantHCHWA, Arctic typehereditary cerebral haemorrhage with amyloidosis, Arctic typehereditary cerebral hemorrhage with amyloidosis, Arctic type