BabelNet

bn:02507950n

Noun Concept

Categories: Health in Iceland, Vascular diseases, Neurological disorders

Hereditary cystatin C amyloid angiopathy Amyloidosis, Cerebroarterial, Icelandic Type Amyloidosis 6 Amyloidosis VI CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED

Hereditary cystatin C amyloid angiopathy is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C. Most of the families with the defect gene can be traced to a region in the northwest of Iceland, around Breiðafjörður. Wikipedia

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A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of CST3 on chromosome 20p11.21. Wikidata

IS A

rare disease

genetic disease

cerebral amyloid angiopathy

GENETIC ASSOCIATION

cystatin C

Wikipedia

Hereditary cystatin C amyloid angiopathy

Wikidata

Hereditary cystatin C amyloid angiopathy

Wikidata Alias

Amyloidosis, Cerebroarterial, Icelandic Type, Amyloidosis 6, Amyloidosis VI, CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED, Cerebral Hemorrhage, Hereditary, with Amyloidosis, Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant, CST3-related amyloidosis, CST3-related cerebral amyloid angiopathy, Cystatin amyloidosis, HCHWA, HCHWA, Icelandic type, Hereditary Cerebral Hemorrhage with Amyloidosis, Hereditary cerebral hemorrhage with amyloidosis, Icelandic type, Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant, Hereditary cystatin C amyloid angiopathy