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Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA (see this term) characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
- CST3-related amyloidosis
- Cystatin amyloidosis
- HCHWA, Icelandic type
- Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
- Hereditary cystatin C amyloid angiopathy
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Adolescent, Adult
- ICD-10: E85.4+ I68.0*
- OMIM: 105150
- UMLS: C1527338
- MeSH: -
- GARD: -
- MedDRA: -
It has been described in 9 sub-families in Icelandic families to date.
Disease onset occurs between the ages of 20-30. Unlike other forms of HCHWA, major systemic amyliodosis and recurrent lobar hemorrhages do occur.
Unlike other forms of HCHWA, it is due to a mutation in the CST3 gene on chromosome 20p11.2, encoding the precursor protein cystatin C.
Transmission is autosomal dominant.
Article for general public
- Summary information
- Polski (2013, pdf)