Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)

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Disease Ontology 12 DOID:0070027 DOID:9246 OMIM 58 105150 KEGG 38 H01185 MeSH 45 D028243 SNOMED-CT 69 45639009 ICD10 34 I68.0 ICD10 via Orphanet 35 E85.4+ I68.0*

UMLS via Orphanet 75 C1510489 C1527338 Orphanet 60 ORPHA100008 ORPHA85458 MedGen 43 C0085220 C1510489 C1527338 SNOMED-CT via HPO 70 1386000 230690007 230706003 230724001 263681008 274100004 52448006 more EFO 17 EFO_0006790 UMLS 74 C0085220 C0268393 C1510489 C1527338 C1956349 C3839957 more

NIH Rare Diseases : ⁵⁴ 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Aluminum hydroxide and Gastrointestinal Agents have been mentioned in the context of this disorder. 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 : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ Cerebral amyloid angiopathy (CAA), also known as congophilic angiopathy, is a form of angiopathy in... more...

Clinical features from OMIM:

105150

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