DISEASES

Disease-gene associations mined from literature

Human genes for ITM2B-related cerebral amyloid angiopathy 1

ITM2B-related cerebral amyloid angiopathy 1 [DOID:0070029]

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.

Synonyms:  ITM2B-related cerebral amyloid angiopathy 1,  Dementia, familial British,  DOID:0070029,  ITM2Brelated cerebral amyloid angiopathy 1,  Cerebral Amyloid Angiopathy, British Type ...