Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)

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GARD: ¹⁹ Hereditary cerebral hemorrhage with amyloidosis (HCHWA) is a neurological condition in which an abnormal protein (amyloid) builds up in the walls of the arteries of the brain (and less frequently, veins). This process is known as amyloid deposition, which can lead to strokes, seizures, neurological deficits, cognitive decline, and dementia. Symptoms usually present before the 5th decade of life. There are many different ways of classifying the types of HCHWA based on the underlying genetic changes, proteins involved, signs and symptoms, and the regions in which they were first described. The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by genetic changes in the APP gene The British and Danish types are caused by genetic changes in the ITM2B gene The Icelandic type is caused by genetic changes in the CST3 gene All types of HCHWA currently described are inherited in an autosomal dominant manner.

MalaCards based summary: Cerebral Amyloid Angiopathy, Cst3-Related, also known as cerebral amyloid angiopathy, is related to cerebral amyloid angiopathy, app-related and gerstmann-straussler disease. An important gene associated with Cerebral Amyloid Angiopathy, Cst3-Related is CST3 (Cystatin C), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Presenilin-Mediated Signaling. The drugs Phenol and Acetylsalicylic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spleen, and related phenotypes are stroke and cerebral hemorrhage

Orphanet ⁵⁸ Acys amyloidosis: A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.

Hereditary cerebral hemorrhage with amyloidosis: A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.

UniProtKB/Swiss-Prot: ⁷³ A hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.

Disease Ontology ¹¹ Cst3-related cerebral amyloid angiopathy: A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of CST3 on chromosome 20p11.21.

Cerebral amyloid angiopathy: An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.

OMIM®: ⁵⁷ 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). (105150) (Updated 08-Dec-2022)

Wikipedia: ⁷⁵ Cerebral amyloid angiopathy (CAA) is a form of angiopathy in which amyloid beta peptide deposits in the... more...

Clinical features from OMIM®:

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