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ACys amyloidosis
Disease definition
A form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
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: -
Summary
Epidemiology
It has been described in 9 sub-families in Icelandic families to date.
Clinical description
Disease onset occurs between the ages of 20-30. Unlike other forms of HCHWA, major systemic amyliodosis and recurrent lobar hemorrhages do occur.
Etiology
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.
Genetic counseling
Transmission is autosomal dominant.
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2013, pdf)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.