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GENATLAS PHENOTYPE
last update : 27-12-2014
Symbol HCHWAI
Location 20p11.21
Name hereditary cerebral hemorrhage with amyloidosis
Other name(s)
  • Iceland type amyloidosis
  • amyloidosis VI
  • Corresponding gene CST3
    Other symbol(s) HCCAA
    Main clinical features
  • cerebral amyloid angiopathy, with deposition of congophilic material in the vessels of the cortex and leptomeninges, major cause of intracerebral hemorrhage in the elderly
  • cerebral arteries showed thickening of the walls with deposition of material with the characteristics of amyloid
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name cystatin C, cysteine proteinase inhibitor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     same mutation in cystatin C, L68Q, has been found in all patients examined so far pointing to a common founder
    Remark(s)