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ITM2B-related cerebral amyloid angiopathy 2
Summary
- Synonym
-
- Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
- FDD
- Familial Danish Dementia
- HOOE
- Heredopathia Ophthalmootoencephalica
- Definition
- A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2.
- Super Class
- autosomal dominant disease cerebral amyloid angiopathy
External Links
- Disease Ontology
- DOID:0070030
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P35052 | Glypican-1 |
