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ACys amyloidosis
Disease definition
A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.
ORPHA:100008
Classification level: Subtype of disorder- Synonym(s):
- 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: -
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2013, pdf)
Additional information
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