AMYL6
MCID: CRB172
MIFTS: 61

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

Aliases & Classifications for Cerebral Amyloid Angiopathy, Cst3-Related

MalaCards integrated aliases for Cerebral Amyloid Angiopathy, Cst3-Related:

Name: Cerebral Amyloid Angiopathy, Cst3-Related 56
Cerebral Amyloid Angiopathy 56 12 74 52 73 36 29 13 54 15 17 71 32
Hereditary Cerebral Hemorrhage with Amyloidosis 56 12 52 58 73 6
Hchwa 56 12 52 58 73
Hereditary Cystatin C Amyloid Angiopathy 58 73 71
Cerebral Hemorrhage, Hereditary, with Amyloidosis 56 12
Amyloidosis, Cerebroarterial, Icelandic Type 56 12
Cst3-Related Cerebral Amyloid Angiopathy 12 15
Cerebral Amyloid Angiopathy, Familial 52 43
Amyloidosis Vi 56 12
Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant 12
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant 12
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 58
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 73
Hereditary Cerebral Hemorrhage with Amyloidosis; Hchwa 56
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 71
Angiopathy, Amyloid, Cerebral, Cst3-Related 39
Cerebroarterial Amyloidosis Icelandic Type 73
Cerebral Amyloid Angiopathy Cst3-Related 73
Cerebral Amyloid Angiopathy, Hereditary 71
Cerebral Amyloid Angiopathy, Genetic 52
Familial Cerebral Amyloid Angiopathy 71
Cerebral Amyloid Angiopathy Familial 54
Cst3-Related Amyloidosis 58
Cystatin C Amyloidosis 73
Hchwa, Icelandic Type 58
Cystatin Amyloidosis 58
Acys Amyloidosis 58
Caa, Familial 52
Amyloidosis 6 73
Hchwa-I 73
Hchwai 73
Hccaa 73
Amyl6 73
Acys 73
Caa 73

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:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

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
UMLS 71 C0085220 C0268393 C1510489 more

Summaries for Cerebral Amyloid Angiopathy, Cst3-Related

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...

Related Diseases for Cerebral Amyloid Angiopathy, Cst3-Related

Diseases in the Hereditary Cerebral Amyloid Angiopathy family:

Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Itm2b-Related, 2
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral Amyloid Angiopathy, App-Related

Diseases related to Cerebral Amyloid Angiopathy, Cst3-Related via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 356)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, itm2b-related, 2 35.2 SERPINA3 ITM2B APP
2 cerebral amyloid angiopathy, itm2b-related, 1 34.7 SERPINA3 PSEN2 PSEN1 PRNP ITM2B GSN
3 gerstmann-straussler disease 33.3 SNCA PSEN2 PSEN1 PRNP MAPT APP
4 hemorrhage, intracerebral 31.7 CST3 APP APOE
5 hereditary cerebral amyloid angiopathy 31.7 CST3 APP
6 meningoencephalitis 31.3 SERPINA3 PSEN1 APP
7 vascular dementia 31.3 SERPINA3 PSEN1 PRNP MAPT CST3 APP
8 binswanger's disease 31.3 MAPT APP APOE
9 hereditary amyloidosis 31.1 TTR GSN
10 autosomal dominant cerebellar ataxia 31.1 SNCA SERPINA3 MAPT APP
11 apraxia 31.0 PSEN1 MAPT APOE
12 akinetic mutism 31.0 SNCA PRNP MAPT
13 senile plaque formation 30.9 APP APOE
14 arteriolosclerosis 30.9 SNCA SERPINA3 MAPT APP APOE
15 aphasia 30.9 SNCA PSEN2 PSEN1 PRNP MAPT APP
16 hydrocephalus 30.8 TTR SERPINA3 PSEN1 MAPT APP APOE
17 ideomotor apraxia 30.7 PSEN2 MAPT
18 amnestic disorder 30.7 PSEN1 MAPT APP APOE
19 down syndrome 30.6 SERPINA3 PSEN1 MAPT BACE1 APP APOE
20 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 30.6 SERPINA3 APP APOE
21 creutzfeldt-jakob disease 30.6 SNCA SERPINA3 PRNP MAPT CST3 BACE1
22 normal pressure hydrocephalus 30.6 TTR SERPINA3 PSEN1 MAPT APP APOE
23 cerebrovascular disease 30.5 TTR SERPINA3 MAPT APP APOE
24 communicating hydrocephalus 30.5 SNCA SERPINA3 PSEN1 MAPT APP APOE
25 amyloidosis, finnish type 30.5 TTR SERPINA3 GSN CST3 APOE
26 huntington disease 30.4 SNCA PSEN2 PSEN1 PRNP MAPT APP
27 cerebral amyloid angiopathy, app-related 30.4 SERPINA3 PSEN2 PSEN1 MAPT ITM2B GSN
28 amyloidosis, hereditary, transthyretin-related 30.4 TTR SNCA PRNP GSN APP
29 multiple system atrophy 1 30.4 SNCA SERPINA3 PRNP MAPT
30 peripheral nervous system disease 30.3 TTR SNCA SERPINA3 APP
31 stroke, ischemic 30.3 SERPINA3 PSEN1 MAPT CST3 BACE1 APOE
32 movement disease 30.2 SNCA SERPINA3 MAPT
33 supranuclear palsy, progressive, 1 30.1 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
34 prion disease 30.0 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
35 dementia, lewy body 29.9 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
36 pick disease of brain 29.9 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
37 parkinson disease, late-onset 29.8 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
38 amyotrophic lateral sclerosis 1 29.8 SNCA SERPINA3 PSEN1 PRNP MAPT CST3
39 alzheimer disease 29.4 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
40 dementia 29.0 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
41 amyloidosis 28.8 TTR SNCA SERPINA3 PSEN1 PRNP MME
42 aural atresia, congenital 12.4
43 lysinuric protein intolerance 11.6
44 analbuminemia 11.6
45 cerebral cavernous malformation, familial 11.5
46 early invasive cervical adenocarcinoma 11.3
47 farber lipogranulomatosis 11.3
48 residual stage of open angle glaucoma 10.6 APP APOE
49 posterior cortical atrophy 10.6 MAPT APOE
50 clivus meningioma 10.6 PSEN2 APP

Graphical network of the top 20 diseases related to Cerebral Amyloid Angiopathy, Cst3-Related:



Diseases related to Cerebral Amyloid Angiopathy, Cst3-Related

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, Cst3-Related

Human phenotypes related to Cerebral Amyloid Angiopathy, Cst3-Related:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stroke 58 31 hallmark (90%) Very frequent (99-80%) HP:0001297
2 cerebral hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0001342
3 cerebral amyloid angiopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0011970
4 death in early adulthood 58 Occasional (29-5%)
5 intracranial hemorrhage 31 HP:0002170
6 dementia 31 HP:0000726
7 amyloidosis 58 Frequent (79-30%)
8 generalized amyloid deposition 31 HP:0003216

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intracranial hemorrhage
dementia
premature stroke

Laboratory Abnormalities:
generalized amyloid deposition
abnormally low cerebrospinal fluid cystatin c

Clinical features from OMIM:

105150

GenomeRNAi Phenotypes related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

26
# 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

MGI Mouse Phenotypes related to Cerebral Amyloid Angiopathy, Cst3-Related:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 APOE APP BACE1 CSTB HSPB6 ITM2B
2 cellular MP:0005384 10.3 APOE APP BACE1 CST3 CST6 CSTB
3 homeostasis/metabolism MP:0005376 10.28 APOE APP BACE1 CST3 GSN LRP1
4 cardiovascular system MP:0005385 10.18 APOE APP CST3 GSN LRP1 MAPT
5 integument MP:0010771 10.18 APOE APP BACE1 CST6 GSN LRP1
6 immune system MP:0005387 10.14 APOE APP CSTB GSN LRP1 MAPT
7 mortality/aging MP:0010768 10.13 APOE APP BACE1 CST3 CST6 GSN
8 nervous system MP:0003631 10 APOE APP BACE1 CST3 CSTB GSN
9 muscle MP:0005369 9.91 APOE APP BACE1 CST3 CSTB LRP1
10 no phenotypic analysis MP:0003012 9.61 APOE APP BACE1 CSTB ITM2B MAPT
11 normal MP:0002873 9.28 APP BACE1 CST7 LRP1 MAPT PRNP

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, Cst3-Related

Drugs for Cerebral Amyloid Angiopathy, Cst3-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
2 Vaccines Phase 2
3
Corticosterone Experimental Phase 1 50-22-6 5753
4 Anti-Inflammatory Agents Phase 1
5
Phenol Approved, Experimental 108-95-2 996
6 Olive

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Application of Amyloid PET in Cerebral Amyloid Angiopathy Completed NCT03542656 Phase 3 amyloid PET
2 Multimodal Biomarkers for Diagnosis and Prognosis in Cerebral Amyloid Angiopathy Recruiting NCT03969732 Phase 3 1. amyloid PET;2. T807 PET
3 A Phase 2, Randomized, Double Blind Placebo Controlled Trial To Evaluate The Safety, Tolerability, Pharmacokinetics And Efficacy Of Pf-04360365 (Ponezumab) In Adult Subjects With Probable Cerebral Amyloid Angiopathy Completed NCT01821118 Phase 2
4 A Phase II Pilot Study of the Safety, Tolerability and Pharmacokinetics of Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2 NC-758 (Anti amyloidotic [Aß] agent)
5 A Multi-center, Randomized, Double-blind, Placebo-controlled, 24 Months Study in Patients With Amnestic Mild Cognitive Impairment or Very Mild Alzheimer's Disease to Investigate the Safety, Tolerability and Immune Response of Repeated Subcutaneous Injections of ABvac40 Recruiting NCT03461276 Phase 2
6 Amyloid-related Imaging Abnormalities (Microbleeds) in Atypical AD Completed NCT01723553 Phase 1 C-11 PiB
7 Non-invasive Evaluation of Cerebrovascular Reactivity in Spontaneous Intracerebral Hemorrhage Recruiting NCT03815513 Phase 1
8 A Research of the Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
9 Observational Study on the Prognostic Relevance of Supratentorial Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Unknown status NCT01856699
10 Diagnostic Utility of MRI in Intracerebral Hemorrhage Unknown status NCT00363662
11 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
12 Amyloid Imaging and Cognitive Impairment After Intracerebral Hemorrhage Completed NCT01619709
13 Cerebral Infarction and White Substance in Angiopathy Cerebral Amyloid Completed NCT03262246
14 Genetics of Mendelian Forms of Young Onset Alzheimer Disease. Identification of Novel Genetic Causes of AD Are of Importance in Completing the Mechanisms of the Amyloid Hypothesis. This Project is Useful to Promote the Guidelines on the Genetic Diagnosis of AD in France. Completed NCT01622894
15 White Matter Hyperintensities in Aging and Dementia Completed NCT03075007
16 Extra-virgin Olive Oil Prevents Mild Cognitive Impairment Conversion to Alzheimer's Disease Recruiting NCT03824197
17 COrtical Superficial Siderosis and REcurrent Lobar Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344
18 SEarchiNg biomarkErs Cerebral Amyloid Angiopathy (SENECA): Italian Network for the Study of CAA Not yet recruiting NCT04204642
19 A Clinico-radiological Reappraisal of Cerebral Amyloid Angiopathy-related Inflammation in a Series of 28 Patients. Terminated NCT03187886
20 F-18-AV-45 Uptake, Spot Sign Presence and Cerebral Amyloid Angiopathy (CAA) in Primary Intracranial Hemorrhage (ICH) Withdrawn NCT01382849

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

Cochrane evidence based reviews: cerebral amyloid angiopathy, familial

Genetic Tests for Cerebral Amyloid Angiopathy, Cst3-Related

Genetic tests related to Cerebral Amyloid Angiopathy, Cst3-Related:

# Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy 29

Anatomical Context for Cerebral Amyloid Angiopathy, Cst3-Related

MalaCards organs/tissues related to Cerebral Amyloid Angiopathy, Cst3-Related:

40
Brain, Cortex, Endothelial, Smooth Muscle, Spleen, Salivary Gland, Heart

Publications for Cerebral Amyloid Angiopathy, Cst3-Related

Articles related to Cerebral Amyloid Angiopathy, Cst3-Related:

(show top 50) (show all 2416)
# Title Authors PMID Year
1
Mutation in cystatin C gene causes hereditary brain haemorrhage. 56 6
2900981 1988
2
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 6 54 61
1303239 1992
3
Clinical and neuropathological features of the arctic APP gene mutation causing early-onset Alzheimer disease. 6 54
18413473 2008
4
Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. 6 61
11409420 2001
5
Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells. 61 6
10821838 2000
6
Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. 56 61
9748011 1998
7
Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 6 61
2111584 1990
8
Cerebral amyloid angiopathy. A critical review. 56 61
3551211 1987
9
Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. 61 56
3707586 1986
10
Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report. 61 56
4056910 1985
11
Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report. 61 56
4056911 1985
12
Fatal massive intracerebral hemorrhage complicating cerebral amyloid angiopathy. 56 61
637762 1978
13
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. 6
20697050 2010
14
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
15
Aggressive amyloidosis in mice expressing human amyloid peptides with the Arctic mutation. 6
15502844 2004
16
Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. 6
12654973 2003
17
The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation. 6
11528419 2001
18
In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. 6
11311152 2001
19
Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion. 6
9848098 1998
20
Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation. 6
9754958 1998
21
A molecular genetic study of intracerebral hemorrhage. 56
7945009 1994
22
Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy. 6
8108423 1994
23
Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. 6
1415269 1992
24
Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. 56
1352269 1992
25
DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type) 6
1679289 1991
26
Structure and expression of the human cystatin C gene. 6
2363674 1990
27
The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland. 56
2689007 1989
28
The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20. 6
2567273 1989
29
Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease. 56
3475718 1987
30
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. 56
3673496 1987
31
Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C. 56
3495457 1987
32
Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. 56
2436360 1987
33
Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C). 56
3517880 1986
34
Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis. 56
3982473 1985
35
Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. 56
6390199 1984
36
Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace. 56
6886625 1983
37
Autosomal dominant cerebrovascular amyloidosis: properties of peripheral blood lymphocytes. 56
7396423 1980
38
Hereditary cerebral haemorrhage with amyloidosis. 56
4655034 1972
39
Cerebral angiomata in an Icelandic family. 56
20241165 1947
40
Oligomeric Abeta in Alzheimer's disease: relationship to plaque and tangle pathology, APOE genotype and cerebral amyloid angiopathy. 61 54
19725829 2010
41
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 54 61
19911184 2010
42
Transglutaminases and transglutaminase-catalyzed cross-links colocalize with the pathological lesions in Alzheimer's disease brain. 61 54
18673368 2009
43
Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. 54 61
19684239 2009
44
Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy. 54 61
19743453 2009
45
SRF and myocardin regulate LRP-mediated amyloid-beta clearance in brain vascular cells. 54 61
19098903 2009
46
[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]. 54 61
18781290 2009
47
Consequence of Abeta immunization on the vasculature of human Alzheimer's disease brain. 61 54
18953056 2008
48
Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. 61 54
18282158 2008
49
Human apolipoprotein E4 targeted replacement mice show increased prevalence of intracerebral hemorrhage associated with vascular amyloid deposition. 61 54
18755411 2008
50
Amyloid beta peptide-activated signal pathways in human platelets. 61 54
18511035 2008

Variations for Cerebral Amyloid Angiopathy, Cst3-Related

ClinVar genetic disease variations for Cerebral Amyloid Angiopathy, Cst3-Related:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CST3 NM_000099.4(CST3):c.281T>A (p.Leu94Gln)SNV Pathogenic 5634 rs28939068 20:23615967-23615967 20:23635330-23635330
2 APP NM_000484.4(APP):c.2125G>A (p.Gly709Ser)SNV Likely pathogenic 638317 21:27264120-27264120 21:25891808-25891808

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Amyloid Angiopathy, Cst3-Related:

73
# Symbol AA change Variation ID SNP ID
1 CST3 p.Leu94Gln VAR_002207 rs28939068

Expression for Cerebral Amyloid Angiopathy, Cst3-Related

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

Pathways for Cerebral Amyloid Angiopathy, Cst3-Related

Pathways related to Cerebral Amyloid Angiopathy, Cst3-Related according to KEGG:

36
# Name Kegg Source Accession
1 Serotonergic synapse hsa04726

Pathways related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 SNCA PSEN2 PSEN1 MME MAPT LRP1
2 12.49 SNCA PSEN2 PSEN1 PRNP MAPT LRP1
3 11.89 PSEN2 PSEN1 BACE1 APP
4 11.45 SNCA PSEN2 PSEN1 MME MAPT LRP1
5 11.44 PRNP MAPT BACE1 APP
6 11.17 MME LRP1 APP APOE
7 11.15 PSEN2 PSEN1 MAPT LRP1 BACE1 APP
8 10.99 PSEN2 PSEN1 MME CST3 BACE1 APP
9 10.16 PSEN2 PSEN1

GO Terms for Cerebral Amyloid Angiopathy, Cst3-Related

Cellular components related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.46 TTR SNCA PSEN1 PRNP MME MAPT
2 plasma membrane GO:0005886 10.4 SNCA PSEN2 PSEN1 PRNP MME MAPT
3 extracellular exosome GO:0070062 10.21 TTR SERPINA3 PRNP MME ITM2B GSN
4 extracellular space GO:0005615 10.2 TTR SNCA SERPINA3 ITM2B GSN CSTB
5 cell GO:0005623 10.13 SNCA PSEN1 PRNP MAPT LRP1 GSN
6 perinuclear region of cytoplasm GO:0048471 10.05 SNCA PSEN2 PSEN1 GSN CST3 APP
7 endosome GO:0005768 10.04 PSEN1 LRP1 ITM2B CST7 BACE1 APP
8 cell surface GO:0009986 10.03 PSEN2 PSEN1 PRNP MME BACE1 APP
9 dendrite GO:0030425 10.02 PSEN1 PRNP MME MAPT LRP1 BACE1
10 extracellular region GO:0005576 10 TTR SNCA SERPINA3 MAPT ITM2B HSPB6
11 early endosome GO:0005769 9.95 PSEN2 PSEN1 MME LRP1 BACE1 APP
12 endoplasmic reticulum lumen GO:0005788 9.92 CST3 BACE1 APP APOE
13 growth cone GO:0030426 9.91 SNCA PSEN2 PSEN1 MAPT APP
14 membrane raft GO:0045121 9.87 PSEN2 PSEN1 PRNP MME MAPT BACE1
15 axon GO:0030424 9.86 SNCA PSEN2 PSEN1 MME MAPT CST3
16 synaptic vesicle GO:0008021 9.85 SNCA PSEN2 PSEN1 MME BACE1 APP
17 neuromuscular junction GO:0031594 9.78 PSEN2 PSEN1 APP
18 rough endoplasmic reticulum GO:0005791 9.77 SNCA PSEN1 APP
19 Golgi apparatus GO:0005794 9.73 SNCA PSEN2 PSEN1 PRNP LRP1 ITM2B
20 multivesicular body GO:0005771 9.72 CST7 CST3 BACE1
21 dendritic shaft GO:0043198 9.71 PSEN2 PSEN1 APP
22 ciliary rootlet GO:0035253 9.67 PSEN2 PSEN1 APP
23 main axon GO:0044304 9.58 MAPT APP
24 neuronal cell body GO:0043025 9.28 SNCA PSEN2 PSEN1 MME MAPT LRP1

Biological processes related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.09 SNCA PSEN2 PSEN1 PRNP LRP1
2 neutrophil degranulation GO:0043312 10.02 TTR SERPINA3 PSEN1 MME GSN CSTB
3 negative regulation of gene expression GO:0010629 10 PSEN1 MAPT APP APOE
4 aging GO:0007568 9.96 SNCA MME LRP1 GSN
5 negative regulation of neuron apoptotic process GO:0043524 9.94 SNCA PSEN1 LRP1 APOE
6 learning or memory GO:0007611 9.88 PSEN1 PRNP MME APP
7 positive regulation of catalytic activity GO:0043085 9.87 PSEN2 PSEN1 APOE
8 negative regulation of protein phosphorylation GO:0001933 9.86 SNCA PSEN1 PRNP
9 positive regulation of protein binding GO:0032092 9.85 PSEN1 LRP1 APP
10 retinoid metabolic process GO:0001523 9.85 TTR LRP1 APOE
11 synapse organization GO:0050808 9.85 SNCA PSEN1 MAPT APP
12 response to oxidative stress GO:0006979 9.85 PSEN1 PRNP CST3 APP APOE
13 adult locomotory behavior GO:0008344 9.82 SNCA CSTB APP
14 protein destabilization GO:0031648 9.82 SNCA PRNP GSN
15 positive regulation of neuron death GO:1901216 9.81 SNCA PRNP MAPT
16 microglial cell activation GO:0001774 9.8 SNCA MAPT APP
17 negative regulation of proteolysis GO:0045861 9.79 CSTB CST4 CST3
18 positive regulation of endocytosis GO:0045807 9.78 SNCA LRP1 APOE
19 membrane protein ectodomain proteolysis GO:0006509 9.77 PSEN2 PSEN1 BACE1
20 response to lead ion GO:0010288 9.77 MAPT BACE1 APP
21 astrocyte activation GO:0048143 9.76 PSEN1 MAPT APP
22 negative regulation of long-term synaptic potentiation GO:1900272 9.74 PRNP APP APOE
23 supramolecular fiber organization GO:0097435 9.73 SNCA MAPT CST3
24 cellular response to copper ion GO:0071280 9.73 SNCA PRNP BACE1 APP
25 amyloid fibril formation GO:1990000 9.71 MAPT GSN APP
26 negative regulation of amyloid-beta formation GO:1902430 9.7 PRNP APOE
27 amyloid-beta clearance GO:0097242 9.7 MME LRP1
28 cellular copper ion homeostasis GO:0006878 9.7 PRNP APP
29 neuron projection maintenance GO:1990535 9.7 PSEN1 PRNP APP
30 negative regulation of endopeptidase activity GO:0010951 9.7 SERPINA3 PRNP CSTB CST6 CST4 CST3
31 positive regulation of receptor recycling GO:0001921 9.69 SNCA PSEN1
32 amyloid precursor protein catabolic process GO:0042987 9.69 PSEN2 PSEN1 BACE1
33 amyloid precursor protein metabolic process GO:0042982 9.68 PSEN1 APOE
34 Notch receptor processing GO:0007220 9.68 PSEN2 PSEN1
35 cellular response to manganese ion GO:0071287 9.67 BACE1 APP
36 positive regulation of amyloid-beta clearance GO:1900223 9.67 LRP1 APOE
37 modulation of age-related behavioral decline GO:0090647 9.67 PSEN1 PRNP APP
38 amyloid-beta clearance by cellular catabolic process GO:0150094 9.66 MME LRP1
39 Notch receptor processing, ligand-dependent GO:0035333 9.66 PSEN2 PSEN1
40 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.65 PSEN1 APP
41 cellular response to amyloid-beta GO:1904646 9.65 PSEN1 PRNP LRP1 BACE1 APP
42 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.63 PSEN1 APP
43 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.62 PSEN1 APP
44 amyloid-beta metabolic process GO:0050435 9.62 PSEN2 PSEN1 MME BACE1
45 positive regulation of amyloid fibril formation GO:1905908 9.58 PSEN1 APP APOE
46 astrocyte activation involved in immune response GO:0002265 9.54 PSEN1 LRP1 APP
47 negative regulation of peptidase activity GO:0010466 9.5 SERPINA3 CSTB CST7 CST6 CST4 CST3
48 cellular protein metabolic process GO:0044267 9.28 TTR SNCA PSEN1 ITM2B GSN CST3

Molecular functions related to Cerebral Amyloid Angiopathy, Cst3-Related according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.05 TTR SNCA PRNP MAPT CST3 APP
2 chaperone binding GO:0051087 9.7 PRNP MAPT HSPB6
3 protease binding GO:0002020 9.67 PRNP LRP1 CSTB CST3
4 endopeptidase inhibitor activity GO:0004866 9.58 CSTB CST7 CST3
5 endopeptidase activity GO:0004175 9.56 PSEN2 PSEN1 MME BACE1
6 apolipoprotein binding GO:0034185 9.55 MAPT LRP1
7 cysteine-type endopeptidase inhibitor activity GO:0004869 9.55 CSTB CST7 CST6 CST4 CST3
8 heparan sulfate proteoglycan binding GO:0043395 9.54 LRP1 APOE
9 aspartic-type endopeptidase activity GO:0004190 9.5 PSEN2 PSEN1 BACE1
10 growth factor receptor binding GO:0070851 9.49 PSEN1 APP
11 lipoprotein particle binding GO:0071813 9.48 MAPT APOE
12 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.46 PSEN2 PSEN1
13 cuprous ion binding GO:1903136 9.43 SNCA PRNP
14 amyloid-beta binding GO:0001540 9.43 PRNP LRP1 ITM2B CST3 BACE1 APOE
15 peptidase inhibitor activity GO:0030414 9.17 SERPINA3 CSTB CST7 CST6 CST4 CST3

Sources for Cerebral Amyloid Angiopathy, Cst3-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....