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GTR Home > Conditions/Phenotypes > ADan amyloidosis

ADan amyloidosis

Synonyms
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2; Cerebellar ataxia, cataract, deafness, and dementia or psychosis; Dementia, familial Danish; Heredopathia ophthalmootoencephalica
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

ITM2B-related cerebral amyloid angiopathy-2, also known as familial Danish dementia (FDD), is an autosomal dominant neurodegenerative disorder characterized by the progressive development of cataracts and other ocular disorders including ocular hemorrhages, hearing impairment, varying neurologic symptoms, and dementia, usually associated with paranoid reactions and temporal disturbance of consciousness. Most patients die in the fifth to sixth decade of life. Neuropathologic findings include severe widespread cerebral amyloid angiopathy, hippocampal plaques, and neurofibrillary tangles, similar to Alzheimer disease (see 104300) (summary by Vidal et al., 2000). [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, RDGCA, imBRI2, ITM2B
    Summary: integral membrane protein 2B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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