Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)

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Disease Ontology 12 DOID:0070027 DOID:9246 OMIM 56 105150 KEGG 36 H01185 MeSH 43 D028243 SNOMED-CT 67 45639009 724357007 ICD10 32 I68.0 ICD10 via Orphanet 33 E85.4+ I68.0*

UMLS via Orphanet 72 C1510489 C1527338 Orphanet 58 ORPHA100008 ORPHA85458 MedGen 41 C0085220 C1510489 C1527338 SNOMED-CT via HPO 68 1386000 230690007 230706003 230724001 263681008 274100004 52448006 more EFO 17 EFO_0006790 UMLS 71 C0085220 C0268393 C1510489 C1527338 C1956349 C3839957 more

NIH Rare Diseases : ⁵² 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, 2 and cerebral amyloid angiopathy, itm2b-related, 1. An important gene associated with Cerebral Amyloid Angiopathy, Cst3-Related is CST3 (Cystatin C), and among its related pathways/superpathways are Serotonergic synapse and Parkinson disease. The drugs Aluminum hydroxide and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and endothelial, 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 : ⁵⁶ 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)

KEGG : ³⁶ Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated with aging, several familial forms of CAA reported to date. Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C, which is an inhibitor of several cysteine proteinases. It has also been reported that mutations in APP are linked to CAA.

UniProtKB/Swiss-Prot : ⁷³ 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 : ⁷⁴ Cerebral amyloid angiopathy (CAA), is a form of angiopathy in which amyloid beta peptide deposits in the... more...

Clinical features from OMIM:

105150

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-1	9.68	CST6 GSN
2	Decreased viability	GR00055-A-2	9.68	CST6 GSN
3	Decreased viability	GR00055-A-3	9.68	GSN
4	Decreased viability	GR00249-S	9.68	BACE1 MAPT PSEN1 SERPINA3 SNCA TTR
5	Decreased viability	GR00381-A-1	9.68	CSTB
6	Decreased viability	GR00386-A-1	9.68	APOE CSTB PSEN2 TTR
7	Decreased viability	GR00402-S-2	9.68	BACE1 CST3 CST4 CST6 HSPB6 LRP1

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