Details of Disease

General Information of Disease (ID: DISM53WI)

• Disease Name: Cerebral amyloid angiopathy, APP-related
• Synonyms: APP-related cerebral amyloid angiopathy; cerebral amyloid angiopathy, APP-related, Italian variant; cerebral amyloid angiopathy, APP-related, Flemish variant; amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant; cerebral amyloid angiopathy, APP-related, Iowa variant; cerebral amyloid angiopathy, APP-related, Arctic variant; cerebral amyloid angiopathy, APP-related, Dutch variant; cerebral amyloid angiopathy, APP-related; amyloidosis, Cerebroarterial, APP-related; HCHWAD; cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants
• Definition: A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.
• Disease Hierarchy:
  DIS1KAQI: Cerebral amyloid angiopathy
  DISM53WI: Cerebral amyloid angiopathy, APP-related
• Disease Identifiers:
  MONDO ID: MONDO_0011583
  MESH ID: C537944
  UMLS CUI: C2751536
  OMIM ID: 605714
  MedGen ID: 414044

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APP	TTE4KHA	moderate	Biomarker	[1]
APP	TTE4KHA	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
APP	OTKFD7R4	Strong	Autosomal dominant	[2]

References

• [1] Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits.Am J Pathol. 2010 Apr;176(4):1841-54. doi: 10.2353/ajpath.2010.090636. Epub 2010 Mar 12.
• [2] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.