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ADan amyloidosis

Disease Summary
Associated Targets (12)
Tbio

10

Tclin

1

Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0007297:  ADan amyloidosis
GARD:0009169: 
MESH:C538209: 
Orphanet:97346: 
UMLS:C1861735: