ADan amyloidosis
Findings
No curated finding names ADan 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 ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
Definition from the Mondo Disease Ontology (MONDO:0007297), read 2026-09-29. CC BY 4.0.
Features
4 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- Cerebral amyloid angiopathyHPOHP:0011970
- Neurofibrillary tanglesHPOHP:0002185
- SpasticityHPOHP:0001257
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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: ADan amyloidosis
- Also called
- cerebellar ataxia, cataract, deafness, and dementia Or psychosiscerebral amyloid angiopathy, ITM2B-related, type 2familial Danish dementiafamilial dementia, Danish typeFDDHeredopathia OphthalmootoencephalicaHOOE