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Disease Ontology Browser
ITM2B-related cerebral amyloid angiopathy 1 (DOID:0070029)
Alliance: disease page
Synonyms: Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD; Presenile Dementia with Spastic Ataxia
Alt IDs: OMIM:176500
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 heterozygous mutation in the ITM2B gene on chromosome 13q14.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory