ABri amyloidosis
MONDO:0008306Mondo
Findings
No curated finding names ABri amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008306), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITM2BHGNC:6174
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Moderate · ClinGen · Autosomal dominant · 2026
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: ABri amyloidosis
- Also called
- cerebral amyloid angiopathy, British typecerebral amyloid angiopathy, ITM2B-related, type 1familial dementia, British typeFBDpresenile dementia with spastic ataxia