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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: -

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