ACys amyloidosis
Findings
No curated finding names ACys 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), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
Definition from the Mondo Disease Ontology (MONDO:0007098), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in early adulthood
HPO, annotations 2026-09-02
Features
4 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 amyloid angiopathyHPOHP:0011970
- Very frequent (80% to 99% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Very frequent (80% to 99% of cases)
- StrokeHPOHP:0001297
- Very frequent (80% to 99% of cases)
- Amyloid depositionHPOHP:0011034
- 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.
- CST3HGNC:2475
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of
Other names
10 names
Resolves to: ACys amyloidosis
- Also called
- amyloidosis, Cerebroarterial, Icelandic typecerebral hemorrhage, hereditary, with amyloidosisCST3-related amyloidosiscystatin amyloidosisHCHWA, Icelandic typehereditary cerebral haemorrhage with amyloidosishereditary cerebral haemorrhage with amyloidosis, Icelandic typehereditary cerebral hemorrhage with amyloidosishereditary cerebral hemorrhage with amyloidosis, Icelandic typehereditary cystatin C amyloid angiopathy