CST3-related cerebral amyloid angiopathy

Term ID

DOID:0070027

Synonyms

• Amyloidosis VI
• Amyloidosis, Cerebroarterial, Icelandic Type
• Cerebral Hemorrhage, Hereditary, with Amyloidosis
• Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant
• HCHWA
• Hereditary Cerebral Hemorrhage with Amyloidosis
• Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant

Definition

A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. https://www.ncbi.nlm.nih.gov/pubmed/2900981

References

• OMIM:105150

Ontology

Human Disease   ( DOID:0070027 )