AMYL6
MCID: CRB172
MIFTS: 61
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Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)
Categories:
Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebral Amyloid Angiopathy, Cst3-Related:
Name: Cerebral Amyloid Angiopathy, Cst3-Related
56
Characteristics:Orphanet epidemiological data:58
hereditary cerebral hemorrhage with amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;
acys amyloidosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adult; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset 3rd to 4th decade of life death before age 40 icelandic families HPO:31
cerebral amyloid angiopathy, cst3-related:
Clinical modifier death in early adulthood Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Cardiovascular diseases Neuronal diseases Bone diseases Ear diseases Muscle diseases Mental diseases
ICD10:
32
Orphanet: 58
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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... |
Human phenotypes related to Cerebral Amyloid Angiopathy, Cst3-Related:58 31 (show all 8)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:105150GenomeRNAi Phenotypes related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy, Cst3-Related:45 (show all 11)
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Drugs for Cerebral Amyloid Angiopathy, Cst3-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:(show all 20)
Cochrane evidence based reviews: cerebral amyloid angiopathy, familial |
Genetic tests related to Cerebral Amyloid Angiopathy, Cst3-Related:
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MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Cst3-Related:40
Brain,
Cortex,
Endothelial,
Smooth Muscle,
Spleen,
Salivary Gland,
Heart
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Articles related to Cerebral Amyloid Angiopathy, Cst3-Related:(show top 50) (show all 2416)
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ClinVar genetic disease variations for Cerebral Amyloid Angiopathy, Cst3-Related:6
UniProtKB/Swiss-Prot genetic disease variations for Cerebral Amyloid Angiopathy, Cst3-Related:73
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Search
GEO
for disease gene expression data for Cerebral Amyloid Angiopathy, Cst3-Related.
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Pathways related to Cerebral Amyloid Angiopathy, Cst3-Related according to KEGG:36
Pathways related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:
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Cellular components related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:(show all 24)
Biological processes related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:(show all 48)
Molecular functions related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:(show all 15)
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