AMYL6
MCID: CRB172
MIFTS: 64

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 58
Cerebral Amyloid Angiopathy 58 12 77 54 76 38 30 13 56 15 17 74
Hereditary Cerebral Hemorrhage with Amyloidosis 58 12 54 60 76
Hchwa 58 12 54 60 76
Hereditary Cystatin C Amyloid Angiopathy 60 76 74
Cerebral Hemorrhage, Hereditary, with Amyloidosis 58 12
Amyloidosis, Cerebroarterial, Icelandic Type 58 12
Cst3-Related Cerebral Amyloid Angiopathy 12 15
Cerebral Amyloid Angiopathy, Familial 54 45
Amyloidosis Vi 58 12
Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant 12
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant 12
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 60
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 76
Hereditary Cerebral Hemorrhage with Amyloidosis; Hchwa 58
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 74
Angiopathy, Amyloid, Cerebral, Cst3-Related 41
Cerebroarterial Amyloidosis Icelandic Type 76
Cerebral Amyloid Angiopathy Cst3-Related 76
Cerebral Amyloid Angiopathy, Hereditary 74
Cerebral Amyloid Angiopathy, Genetic 54
Familial Cerebral Amyloid Angiopathy 74
Cst3-Related Amyloidosis 60
Cystatin C Amyloidosis 76
Hchwa, Icelandic Type 60
Cystatin Amyloidosis 60
Acys Amyloidosis 60
Caa, Familial 54
Amyloidosis 6 76
Hchwa-I 76
Hchwai 76
Hccaa 76
Amyl6 76
Acys 76
Caa 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset 3rd to 4th decade of life
death before age 40
icelandic families


HPO:

33
cerebral amyloid angiopathy, cst3-related:
Clinical modifier death in early adulthood
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

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

Summaries for Cerebral Amyloid Angiopathy, Cst3-Related

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...

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 157)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, itm2b-related, 1 34.7 APP ITM2B
2 cerebral amyloid angiopathy, itm2b-related, 2 34.5 CST3 ITM2B PRNP
3 cerebral amyloid angiopathy, app-related 33.7 APP CST3 HSPB6
4 gerstmann-straussler disease 33.0 APP PRNP
5 hereditary amyloidosis 32.3 GSN TTR
6 hemorrhage, intracerebral 31.6 APOE APP CST3
7 cerebral hemorrhage 31.2 APP CST3
8 hereditary cerebral amyloid angiopathy 30.6 APP CST3
9 cerebrovascular disease 30.4 APOE APP MAPT
10 supranuclear palsy, progressive, 1 30.3 APOE APP MAPT
11 creutzfeldt-jakob disease 30.1 APOE CST3 MAPT PRNP SERPINA3
12 hydrocephalus, normal-pressure 30.1 APOE MAPT
13 vascular dementia 29.9 SERPINA3 PSEN1 MAPT CST3 APP APOE
14 amyloidosis 29.8 APOE APP CST3 GSN PSEN1 TTR
15 hydrocephalus 29.8 APOE APP MAPT TTR
16 aphasia 29.4 APOE APP MAPT PRNP PSEN1
17 dementia 29.0 APOE APP ITM2B MAPT PRNP PSEN1
18 alzheimer disease 27.8 TTR SERPINA3 PSEN1 PRNP MME MAPT
19 aural atresia, congenital 12.4
20 lysinuric protein intolerance 11.4
21 congenital analbuminemia 11.4
22 cerebral cavernous malformation, familial 11.4
23 early invasive cervical adenocarcinoma 11.2
24 farber lipogranulomatosis 11.1
25 encephalopathy 10.5
26 aging 10.4
27 primary angiitis of the central nervous system 10.4
28 brain injury 10.4
29 senile plaque formation 10.3 APOE APP
30 schistosomiasis 10.3
31 alzheimer's disease 1 10.3 APOE APP
32 traumatic brain injury 10.3
33 atrial fibrillation 10.3
34 polyneuropathy 10.3
35 schizophrenia 10.3
36 genetic prion diseases 10.3 APOE PRNP
37 al amyloidosis 10.3 CST3 TTR
38 down syndrome 10.3
39 arteriosclerosis 10.3
40 granulomatous angiitis 10.3
41 ischemia 10.3
42 autosomal dominant cerebellar ataxia 10.3
43 early-onset, autosomal dominant alzheimer disease 10.2 APP PSEN1
44 huntington disease-like 1 10.2 APOE PRNP
45 alzheimer disease 4 10.2 APOE PSEN1
46 simultanagnosia 10.2 APOE MAPT
47 adenocarcinoma 10.2
48 posterior cortical atrophy 10.2 APOE MAPT
49 alexia 10.2 APOE PSEN1
50 stroke, ischemic 10.2

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:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 stroke 60 33 hallmark (90%) Very frequent (99-80%) HP:0001297
2 cerebral hemorrhage 60 33 hallmark (90%) Very frequent (99-80%) HP:0001342
3 cerebral amyloid angiopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0011970
4 death in early adulthood 60 Occasional (29-5%)
5 dementia 33 HP:0000726
6 intracranial hemorrhage 33 HP:0002170
7 amyloidosis 60 Frequent (79-30%)
8 generalized amyloid deposition 33 HP:0003216

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dementia
intracranial hemorrhage
premature stroke

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

Clinical features from OMIM:

105150

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 APOE APP CST3 GSN LRP1 MAPT
2 cardiovascular system MP:0005385 10.03 APOE APP CST3 GSN LRP1 MAPT
3 immune system MP:0005387 9.97 APOE APP GSN LRP1 MAPT MME
4 integument MP:0010771 9.92 APOE APP GSN LRP1 MAPT MME
5 nervous system MP:0003631 9.81 APOE APP CST3 GSN ITM2B LRP1
6 muscle MP:0005369 9.8 APOE APP CST3 LRP1 MAPT PRNP
7 no phenotypic analysis MP:0003012 9.43 APOE APP ITM2B MAPT PRNP TTR
8 reproductive system MP:0005389 9.17 APOE APP CST3 GSN LRP1 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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
2 Gastrointestinal Agents Phase 2
3 Adjuvants, Immunologic Phase 2
4 Vaccines Phase 2
5 Antacids Phase 2
6 Anti-Ulcer Agents Phase 2
7 Immunologic Factors Phase 2
8
Phenol Approved, Experimental Not Applicable 108-95-2 996
9 Flutemetamol Investigational 637003-10-2
10 Anti-Infective Agents Not Applicable
11 Olive Not Applicable
12 Anti-Infective Agents, Local Not Applicable
13 Pharmaceutical Solutions Not Applicable
14 Sclerosing Solutions Not Applicable
15 Disinfectants Not Applicable
16 Radiopharmaceuticals

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Application of Amyloid PET in Cerebral Amyloid Angiopathy Recruiting NCT03542656 Phase 3 amyloid PET
2 A Study of CNP520 Versus Placebo in Participants at Risk for the Onset of Clinical Symptoms of Alzheimer's Disease Recruiting NCT03131453 Phase 2, Phase 3 CNP520 50mg;CNP520 15mg
3 Study Evaluating the Safety,Tolerability and Efficacy of PF-04360365 in Adults With Probable Cerebral Amyloid Angiopathy Completed NCT01821118 Phase 2
4 Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2 NC-758 (Anti amyloidotic [Aß] agent)
5 Safety and Immunogenicity of Repeated Doses of ABvac40 in Patients With a-MCI or Vm-AD Recruiting NCT03461276 Phase 2
6 Non-invasive Evaluation of Cerebrovascular Reactivity in Spontaneous Intracerebral Hemorrhage Recruiting NCT03815513 Phase 1
7 Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
8 F-18-AV-45 Uptake, Spot Sign Presence and Cerebral Amyloid Angiopathy (CAA) in Primary Intracranial Hemorrhage (ICH) Withdrawn NCT01382849
9 Cortical Superficial Siderosis and Risk of Recurrent Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344 Not Applicable
10 Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Active, not recruiting NCT01856699
11 Use Lay Language. CAA-ri : a Series of 28 Patients Terminated NCT03187886
12 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
13 Cerebral Infarction and White Substance in Angiopathy Cerebral Amyloid Completed NCT03262246
14 Auburn University Research on Olive Oil for Alzheimer's Disease (AU-ROOAD) Not yet recruiting NCT03824197 Not Applicable
15 Amyloid Imaging and Cognitive Impairment After Intracerebral Hemorrhage Completed NCT01619709 Not Applicable
16 Genetics of Mendelian Forms of Young Onset Alzheimer Disease Active, not recruiting NCT01622894
17 BEAM: Brain-Eye Amyloid Memory Study Recruiting NCT02524405

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 30

Anatomical Context for Cerebral Amyloid Angiopathy, Cst3-Related

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

42
Brain, Cortex, Spleen, Salivary Gland, Prostate, Smooth Muscle, Breast

Publications for Cerebral Amyloid Angiopathy, Cst3-Related

Articles related to Cerebral Amyloid Angiopathy, Cst3-Related:

(show top 50) (show all 894)
# Title Authors Year
1
The Impact of Cerebral Amyloid Angiopathy in Various Neurodegenerative Dementia Syndromes: A Neuropathological Study. ( 30792924 )
2019
2
Microbleeds and Cerebral Amyloid Angiopathy in the Brains of People with Down Syndrome with Alzheimer's Disease. ( 30452414 )
2019
3
Minimally symptomatic cerebral amyloid angiopathy-related inflammation: three descriptive case reports. ( 29535144 )
2019
4
Cortical superficial siderosis and recurrent intracerebral hemorrhage risk in cerebral amyloid angiopathy: Large Prospective cohort and preliminary meta-analysis. ( 30785378 )
2019
5
Prognostic relevance of cortical superficial siderosis in cerebral amyloid angiopathy. ( 30674596 )
2019
6
Osteopontin and phospho-SMAD2/3 are associated with calcification of vessels in D-CAA, an hereditary cerebral amyloid angiopathy. ( 30868685 )
2019
7
Multiple Approaches to Diffusion Magnetic Resonance Imaging in Hereditary Cerebral Amyloid Angiopathy Mutation Carriers. ( 30717612 )
2019
8
Advanced cerebral amyloid angiopathy and small vessel disease are associated with psychosis in Alzheimer's disease. ( 30054314 )
2019
9
Progressive Supranuclear Palsy-like Syndrome from Possible Cerebral Amyloid Angiopathy. ( 30457071 )
2019
10
Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura. ( 30597599 )
2019
11
Cerebrovascular pathology in cerebral amyloid angiopathy presenting as intracerebral haemorrhage. ( 30617647 )
2019
12
New Silent Cerebral Infarction in Patients with Acute Non-Cerebral Amyloid Angiopathy Intracerebral Hemorrhage as a Predictor of Recurrent Cerebrovascular Events. ( 30640895 )
2019
13
Blood-Brain Barrier Leakage and Microvascular Lesions in Cerebral Amyloid Angiopathy. ( 30661497 )
2019
14
Chronic treatment with five vascular risk factors causes cerebral amyloid angiopathy but no Alzheimer pathology in C57BL6 mice. ( 30664922 )
2019
15
Apolipoprotein E and clusterin inhibit the early phase of amyloid-β aggregation in an in vitro model of cerebral amyloid angiopathy. ( 30691533 )
2019
16
Histopathology of diffusion imaging abnormalities in cerebral amyloid angiopathy. ( 30700595 )
2019
17
Beta-amyloid pathology in human brain microvessel extracts from the parietal cortex: relation with cerebral amyloid angiopathy and Alzheimer's disease. ( 30729296 )
2019
18
Cerebral hemorrhagic stroke associated with cerebral amyloid angiopathy in young adults about 3 decades after neurosurgeries in their infancy. ( 30735884 )
2019
19
Cerebral amyloid angiopathy-related inflammation: findings on magnetic resonance imaging. ( 30804623 )
2019
20
A distinct brain beta amyloid signature in cerebral amyloid angiopathy compared to Alzheimer's disease. ( 30807796 )
2019
21
Tau as a mediator of neurotoxicity associated to cerebral amyloid angiopathy. ( 30808415 )
2019
22
Sporadic cerebral amyloid angiopathy. ( 30907371 )
2019
23
Barometric Pressure in Cerebral Amyloid Angiopathy: A Pressure to Bleed? ( 30910266 )
2019
24
Brain ApoA-I, ApoJ and ApoE Immunodetection in Cerebral Amyloid Angiopathy. ( 30918495 )
2019
25
Simultaneous occurrence of giant cell arteritis and cerebral amyloid angiopathy. ( 30927437 )
2019
26
Clinical significance of amyloid β positivity in patients with probable cerebral amyloid angiopathy markers. ( 30937462 )
2019
27
Impaired dynamic cerebral autoregulation in patients with cerebral amyloid angiopathy. ( 30998930 )
2019
28
Authors' Response to "Barometric Pressure in Cerebral Amyloid Angiopathy: A Pressure to Bleed?" ( 31010765 )
2019
29
Immunotherapy with ponezumab for probable cerebral amyloid angiopathy. ( 31020004 )
2019
30
Intracellular Aluminium in Inflammatory and Glial Cells in Cerebral Amyloid Angiopathy: A Case Report. ( 31022962 )
2019
31
Pleiotropic neuroprotective effects of taxifolin in cerebral amyloid angiopathy. ( 31036637 )
2019
32
Iatrogenic early onset cerebral amyloid angiopathy 30 years after cerebral trauma with neurosurgery: vascular amyloid deposits are made up of both Aβ40 and Aβ42. ( 31046829 )
2019
33
Finger-Like Projections in Lobar Haemorrhage on Early Magnetic Resonance Imaging Is Associated with Probable Cerebral Amyloid Angiopathy. ( 31063997 )
2019
34
ApoA-I deficiency increases cortical amyloid deposition, cerebral amyloid angiopathy, cortical and hippocampal astrogliosis, and amyloid-associated astrocyte reactivity in APP/PS1 mice. ( 31084613 )
2019
35
Cerebral amyloid angiopathy-related inflammation: a case report presenting with a rare variant in SORL1 gene. ( 31092209 )
2019
36
Advances in cerebral amyloid angiopathy imaging. ( 31105769 )
2019
37
Core cerebrospinal fluid biomarker profile in cerebral amyloid angiopathy: A meta-analysis. ( 29386280 )
2018
38
Reversible sub-acute cognitive deterioration in cerebral amyloid angiopathy: A case report. ( 29406906 )
2018
39
Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery. ( 29450646 )
2018
40
Potential link between sporadic cerebral amyloid angiopathy and vision loss: a case report. ( 29461679 )
2018
41
Neurodegenerative disease biomarkers Aβ1-40, Aβ1-42, tau, and p-tau181 in the vervet monkey cerebrospinal fluid: Relation to normal aging, genetic influences, and cerebral amyloid angiopathy. ( 29484263 )
2018
42
The fine anatomy of the perivascular compartment in the human brain: relevance to dilated perivascular spaces in cerebral amyloid angiopathy. ( 29486067 )
2018
43
Intravenous injection of beta-amyloid seeds promotes cerebral amyloid angiopathy (CAA). ( 29506560 )
2018
44
Fatal Aβ cerebral amyloid angiopathy 4 decades after a dural graft at the age of 2 years. ( 29508058 )
2018
45
Primary Intracerebral Hemorrhage: A Closer Look at Hypertension and Cerebral Amyloid Angiopathy. ( 29556933 )
2018
46
Author Correction: Distinctive Clinical Effects of Haemorrhagic Markers in Cerebral Amyloid Angiopathy. ( 29563584 )
2018
47
Capillary cerebral amyloid angiopathy in Alzheimer's disease: association with allocortical/hippocampal microinfarcts and cognitive decline. ( 29574591 )
2018
48
Cerebral amyloid angiopathy: Review of clinico-radiological features and mimics. ( 29604173 )
2018
49
Cerebral Amyloid Angiopathy: Similarity in African-Americans and Caucasians with Alzheimer's Disease. ( 29614657 )
2018
50
Memory deficiency, cerebral amyloid angiopathy, and amyloid-β plaques in APP+PS1 double transgenic rat model of Alzheimer's disease. ( 29641600 )
2018

Variations for Cerebral Amyloid Angiopathy, Cst3-Related

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

76
# Symbol AA change Variation ID SNP ID
1 CST3 p.Leu94Gln VAR_002207 rs28939068

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CST3 NM_000099.3(CST3): c.281T> A (p.Leu94Gln) single nucleotide variant Pathogenic rs28939068 GRCh38 Chromosome 20, 23635330: 23635330
2 CST3 NM_000099.3(CST3): c.281T> A (p.Leu94Gln) single nucleotide variant Pathogenic rs28939068 GRCh37 Chromosome 20, 23615967: 23615967

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:

38
# Name Kegg Source Accession
1 Serotonergic synapse hsa04726

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 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.91 APOE APP CST3 GSN ITM2B SERPINA3
2 extracellular region GO:0005576 9.81 APOE APP CST3 GSN HSPB6 ITM2B
3 neuronal cell body GO:0043025 9.76 APOE LRP1 MAPT PSEN1
4 axon GO:0030424 9.73 APP MAPT MME PSEN1
5 blood microparticle GO:0072562 9.67 APOE GSN SERPINA3
6 growth cone GO:0030426 9.65 APP MAPT PSEN1
7 extracellular exosome GO:0070062 9.61 APOE APP CST3 GSN ITM2B MME
8 membrane raft GO:0045121 9.56 APP MAPT PRNP PSEN1
9 dendritic shaft GO:0043198 9.54 APP PSEN1
10 smooth endoplasmic reticulum GO:0005790 9.51 APP PSEN1
11 ciliary rootlet GO:0035253 9.4 APP PSEN1
12 main axon GO:0044304 9.32 APP MAPT
13 dendrite GO:0030425 9.1 APOE LRP1 MAPT MME PRNP PSEN1
14 cytoplasm GO:0005737 10.25 APOE APP GSN HSPB6 LRP1 MAPT
15 plasma membrane GO:0005886 10.18 APOE APP GSN ITM2B LRP1 MAPT

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.95 CST3 GSN MME PSEN1 SERPINA3 TTR
2 negative regulation of endopeptidase activity GO:0010951 9.83 APP CST3 SERPINA3
3 negative regulation of neuron apoptotic process GO:0043524 9.82 APOE LRP1 PSEN1
4 negative regulation of peptidase activity GO:0010466 9.81 APP CST3 SERPINA3
5 response to oxidative stress GO:0006979 9.81 APOE APP PRNP PSEN1
6 positive regulation of protein binding GO:0032092 9.75 APP LRP1 PSEN1
7 learning or memory GO:0007611 9.74 APP PRNP PSEN1
8 retinoid metabolic process GO:0001523 9.73 APOE LRP1 TTR
9 synapse organization GO:0050808 9.7 APP MAPT PSEN1
10 cellular response to nerve growth factor stimulus GO:1990090 9.69 APP MAPT
11 neuron apoptotic process GO:0051402 9.68 APP PSEN1
12 positive regulation of neuron death GO:1901216 9.68 MAPT PRNP
13 long-term memory GO:0007616 9.68 APOE PRNP
14 positive regulation of phosphorylation GO:0042327 9.68 APP PSEN1
15 cellular response to copper ion GO:0071280 9.67 APP PRNP
16 positive regulation of endocytosis GO:0045807 9.67 APOE LRP1
17 lipoprotein metabolic process GO:0042157 9.67 APOE LRP1
18 positive regulation of dendritic spine development GO:0060999 9.66 APOE PSEN1
19 regulation of protein binding GO:0043393 9.66 APP PSEN1
20 response to lead ion GO:0010288 9.65 APP MAPT
21 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.64 APP PRNP
22 positive regulation of cholesterol efflux GO:0010875 9.63 APOE LRP1
23 amyloid-beta metabolic process GO:0050435 9.63 MME PSEN1
24 astrocyte activation GO:0048143 9.63 APP MAPT PSEN1
25 cellular copper ion homeostasis GO:0006878 9.62 APP PRNP
26 supramolecular fiber organization GO:0097435 9.62 CST3 MAPT
27 amyloid-beta clearance GO:0097242 9.61 LRP1 MME
28 negative regulation of long-term synaptic potentiation GO:1900272 9.61 APOE APP PRNP
29 amyloid precursor protein metabolic process GO:0042982 9.6 APOE PSEN1
30 negative regulation of amyloid-beta formation GO:1902430 9.59 APOE PRNP
31 regulation of cholesterol transport GO:0032374 9.58 APOE LRP1
32 neuron projection maintenance GO:1990535 9.58 APP PRNP PSEN1
33 cellular response to amyloid-beta GO:1904646 9.56 APP LRP1 PRNP PSEN1
34 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.55 APP PSEN1
35 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.54 APP PSEN1
36 amyloid fibril formation GO:1990000 9.54 APP GSN MAPT
37 modulation of age-related behavioral decline GO:0090647 9.5 APP PRNP PSEN1
38 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.49 APP PSEN1
39 positive regulation of amyloid fibril formation GO:1905908 9.33 APOE APP PSEN1
40 regulation of protein metabolic process GO:0051246 9.3 APOE
41 cellular protein metabolic process GO:0044267 9.17 APOE APP CST3 GSN ITM2B PSEN1
42 astrocyte activation involved in immune response GO:0002265 9.13 APP LRP1 PSEN1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.77 APOE APP CST3 GSN HSPB6 ITM2B
2 identical protein binding GO:0042802 9.73 APOE APP CST3 MAPT PRNP TTR
3 peptidase inhibitor activity GO:0030414 9.58 APP CST3 SERPINA3
4 chaperone binding GO:0051087 9.54 HSPB6 MAPT PRNP
5 protease binding GO:0002020 9.5 CST3 LRP1 PRNP
6 apolipoprotein binding GO:0034185 9.43 LRP1 MAPT
7 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
8 amyloid-beta binding GO:0001540 8.92 APOE CST3 ITM2B PRNP

Sources for Cerebral Amyloid Angiopathy, Cst3-Related

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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