Details of Disease

General Information of Disease (ID: DIS9H9YB)

• Disease Name: ACys amyloidosis
• Synonyms: CST3-related cerebral amyloid angiopathy; cerebral amyloid angiopathy, CST3-related; amyloidosis 6; cerebral amyloid angiopathy; hereditary cystatin C amyloid angiopathy; HCHWA, Icelandic type; amyloidosis, Cerebroarterial, Icelandic type; CST3-related amyloidosis; amyloidosis VI; hereditary cerebral haemorrhage with amyloidosis, Icelandic type; cerebral hemorrhage, hereditary, with amyloidosis; hereditary cerebral haemorrhage with amyloidosis; hereditary cerebral hemorrhage with amyloidosis; cystatin amyloidosis; hereditary cerebral hemorrhage with amyloidosis, Icelandic type
• Definition: Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages.
• Disease Hierarchy:
  DIS1KAQI: Cerebral amyloid angiopathy
  DIS9H9YB: ACys amyloidosis
• Disease Identifiers:
  MONDO ID: MONDO_0007098
  MESH ID: D028243
  UMLS CUI: C1527338
  OMIM ID: 105150
  MedGen ID: 279656
  Orphanet ID: 100008
  SNOMED CT ID: 45639009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CST3	OTNZ6AO4	Strong	Autosomal dominant	[1]

References

• [1] Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. Hum Genet. 1992 Jun;89(4):377-80. doi: 10.1007/BF00194306.