Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)

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OMIM 57 105150 Disease Ontology 12 DOID:0070027 DOID:9246 MeSH 44 D028243 SNOMED-CT 68 45639009 Orphanet 59 ORPHA85458 ORPHA100008 ICD10 via Orphanet 34 E85.4+ I68.0*

UMLS via Orphanet 74 C1510489 C1527338 MedGen 42 C1527338 C0085220 C1510489 KEGG 37 H01185 ICD10 33 I68.0 SNOMED-CT via HPO 69 263681008 52448006 230690007 230706003 274100004 1386000 230724001 more UMLS 73 C0268393 C1510489 C1527338 C1956349 C0085220 C3839957 more

NIH Rare Diseases : ⁵³ 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. Based on the region in which they were first described, the subtypes include:The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by mutations in the APP gene The British and Danish types are caused by mutations in the ITM2B gene The Icelandic type is caused by mutations in the CST3 gene  All types of HCHWA currently described are inherited in an autosomal dominant manner. There is no cure for HCHWA, however, antihypertensive therapy is typically recommended.

MalaCards based summary : Cerebral Amyloid Angiopathy, Cst3-Related, also known as cerebral amyloid angiopathy, is related to cerebral amyloid angiopathy, itm2b-related, 1 and cerebral amyloid angiopathy, itm2b-related, 2. An important gene associated with Cerebral Amyloid Angiopathy, Cst3-Related is CST3 (Cystatin C), and among its related pathways/superpathways are Serotonergic synapse and Neuroscience. Affiliated tissues include brain, cortex and spleen, and related phenotypes are stroke and cerebral hemorrhage

Disease Ontology : ¹² 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)

CDC : ³ 0 0 0 0 0 0 0 0 0 0

UniProtKB/Swiss-Prot : ⁷⁵ Amyloidosis 6: 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.

Wikipedia : ⁷⁶ Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

Clinical features from OMIM:

105150

Search Clinical Trials , NIH Clinical Center for Cerebral Amyloid Angiopathy, Cst3-Related

Search GEO for disease gene expression data for Cerebral Amyloid Angiopathy, Cst3-Related.