CST3-related cerebral amyloid angiopathy

Summary
Synonym
  • Amyloidosis VI
  • Amyloidosis, Cerebroarterial, Icelandic Type
  • Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant
  • HCHWA
  • 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.
Super Class
autosomal dominant disease cerebral amyloid angiopathy
Disease Ontology
DOID:0070027
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
13010 Cst3 cystatin C
Displaying 1 entry
Gene ID Gene Symbol Description Source
25307 Cst3 cystatin C
Displaying 1 entry
Gene ID Gene Symbol Description Source
177372 cpi-1 Cystatin cpi-1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024