APP-related cerebral amyloid angiopathy

Summary
Synonym
  • Amyloidosis, Cerebroarterial, App-Related
  • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
  • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
  • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
  • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
  • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
  • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
  • HCHWAD
Definition
A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.
Super Class
autosomal dominant disease cerebral amyloid angiopathy
Disease Ontology
DOID:0070028
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
351 APP amyloid beta precursor protein
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P05067 Amyloid-beta precursor protein

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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: April 7, 2025