Details of Disease

General Information of Disease (ID: DIS3Y5TL)

• Disease Name: ABri amyloidosis
• Synonyms: cerebral amyloid angiopathy, ITM2B-RELATED, 1; dementia familial British; dementia, familial British; ITM2B-related cerebral amyloid angiopathy 1; Bri amyloidosis; presenile dementia with spastic ataxia; familial dementia, British type; familial British dementia; FBD; cerebral amyloid angiopathy, ITM2B-related, type 1; ABri amyloidosis; cerebral amyloid angiopathy, British type
• Definition: A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
• Disease Hierarchy:
  DIS1KAQI: Cerebral amyloid angiopathy
  DISO8UGV: ITM2B amyloidosis
  DIS3Y5TL: ABri amyloidosis
• Disease Identifiers:
  MONDO ID: MONDO_0008306
  UMLS CUI: C5190835
  OMIM ID: 176500
  MedGen ID: 1677186
  Orphanet ID: 97345
  SNOMED CT ID: 783161005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITM2B	OTMXEPXB	Strong	Autosomal dominant	[1]

References

• [1] 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.