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GTR Home > Conditions/Phenotypes > Hereditary cerebral amyloid angiopathy, Icelandic type

Hereditary cerebral amyloid angiopathy, Icelandic type

Synonyms
ACys amyloidosis; AMYLOIDOSIS VI; AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE; CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA). [from OMIM]

Available tests

11 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARMD11, HEL-S-2, CST3
    Summary: cystatin C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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