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ACys amyloidosis

Disease Export to PDF
Name:
ACys amyloidosis
Description:
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.
ORPHAcode:
100008
Synonyms:
CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
XREF(s):
Orphanet
ICD-10
ICD-10
OMIM
Analyte(s):
CST3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14