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AMYL6
MCID: CRB172
MIFTS: 65

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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Aliases & Classifications for Cerebral Amyloid Angiopathy, Cst3-Related

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

Name: Cerebral Amyloid Angiopathy, Cst3-Related 57 6
Cerebral Amyloid Angiopathy 57 12 74 20 73 36 29 13 54 15 17 71 32
Hereditary Cerebral Hemorrhage with Amyloidosis 57 12 20 58 73 6
Hchwa 57 12 20 58 73
Hereditary Cystatin C Amyloid Angiopathy 58 73 71
Cerebral Hemorrhage, Hereditary, with Amyloidosis 57 12
Amyloidosis, Cerebroarterial, Icelandic Type 57 12
Cst3-Related Cerebral Amyloid Angiopathy 12 15
Cerebral Amyloid Angiopathy, Familial 20 44
Amyloidosis Vi 57 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 57
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 20
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 20
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
cerebral amyloid angiopathy, cst3-related:
Onset and clinical course 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
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:0070027 DOID:9246
OMIM® 57 105150
KEGG 36 H01185
MeSH 44 D028243
SNOMED-CT 67 45639009
ICD10 32 I68.0
ICD10 via Orphanet 33 E85.4+ I68.0*
UMLS via Orphanet 72 C1510489 C1527338
UMLS 71 C0085220 C0268393 C1510489 more
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Summaries for Cerebral Amyloid Angiopathy, Cst3-Related

About this section
GARD : 20 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 gerstmann-straussler disease 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 Metabolism of proteins. The drugs Anti-Inflammatory Agents, Non-Steroidal and Antirheumatic Agents 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® : 57 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) (Updated 05-Mar-2021)

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...

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Related Diseases for Cerebral Amyloid Angiopathy, Cst3-Related

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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 302)
# Related Disease Score Top Affiliating Genes
1 gerstmann-straussler disease 32.6 TTR SNCA PSEN2 PSEN1 PRNP MAPT
2 cerebral amyloid angiopathy, itm2b-related, 2 32.1 SERPINA3 ITM2B APP
3 hemorrhage, intracerebral 31.7 CST3 APP APOE
4 cerebral amyloid angiopathy, itm2b-related, 1 31.7 SERPINA3 PSEN2 PSEN1 PRNP ITM2B GSN
5 mild cognitive impairment 31.5 MAPT LRP1 CST3 BACE1 APP APOE
6 vascular dementia 31.4 SERPINA3 PSEN1 PRNP MAPT CST3 BACE1
7 apraxia 31.2 PSEN1 MAPT APOE
8 aphasia 31.2 SNCA PSEN2 PSEN1 PRNP MAPT APP
9 binswanger's disease 31.1 MAPT APP APOE
10 hereditary cerebral amyloid angiopathy 31.1 CST3 APP
11 hydrocephalus 31.0 TTR SERPINA3 PSEN1 MAPT APP APOE
12 arteriolosclerosis 31.0 SNCA SERPINA3 MAPT APP APOE
13 akinetic mutism 31.0 SNCA PRNP MAPT
14 creutzfeldt-jakob disease 30.9 SNCA SERPINA3 PRNP MAPT CST3 BACE1
15 down syndrome 30.9 SERPINA3 PSEN1 MAPT BACE1 APP APOE
16 autosomal dominant cerebellar ataxia 30.9 SNCA SERPINA3 PRNP MAPT APP
17 stroke, ischemic 30.8 SERPINA3 PSEN1 MAPT CST3 BACE1 APOE
18 senile plaque formation 30.7 APP APOE
19 normal pressure hydrocephalus 30.7 TTR SERPINA3 PSEN1 MAPT APP APOE
20 hereditary amyloidosis 30.7 TTR GSN
21 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.7 PRNP MAPT
22 supranuclear palsy, progressive, 1 30.7 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
23 amnestic disorder 30.6 PSEN1 MAPT APP APOE
24 communicating hydrocephalus 30.6 SNCA SERPINA3 PSEN2 PSEN1 MAPT APP
25 amyloidosis, finnish type 30.6 TTR SERPINA3 GSN APOE
26 huntington disease 30.6 SNCA PSEN2 PRNP MAPT APP
27 prosopagnosia 30.6 PSEN2 MAPT
28 prion disease 30.6 SNCA PRNP MAPT
29 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 30.5 SERPINA3 APP APOE
30 ideomotor apraxia 30.5 SNCA PSEN2 PRNP MAPT APOE
31 amyloidosis, hereditary, transthyretin-related 30.5 TTR SNCA PRNP GSN APP
32 scrapie 30.5 SNCA SERPINA3 PRNP MAPT APP APOE
33 alzheimer disease 30.5 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
34 cerebral amyloid angiopathy, app-related 30.5 TTR SERPINA3 PSEN2 PSEN1 LRP1 ITM2B
35 pick disease of brain 30.4 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
36 dementia, lewy body 30.4 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
37 cerebrovascular disease 30.4 TTR SERPINA3 MAPT APP APOE
38 frontotemporal dementia 30.4 SNCA PSEN2 PSEN1 PRNP MAPT APP
39 multiple system atrophy 1 30.2 SNCA SERPINA3 PRNP MAPT
40 parkinson disease, late-onset 30.2 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
41 movement disease 30.2 SNCA SERPINA3 MAPT APP APOE
42 motor neuron disease 30.1 SNCA SERPINA3 MAPT APP APOE
43 peripheral nervous system disease 30.0 TTR SNCA SERPINA3 PSEN1 MAPT BACE1
44 amyotrophic lateral sclerosis 1 30.0 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
45 dementia 29.8 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
46 amyloidosis 29.6 TTR SNCA SERPINA3 PSEN1 PRNP MME
47 aural atresia, congenital 11.7
48 abri amyloidosis 11.3
49 lysinuric protein intolerance 11.3
50 analbuminemia 11.3

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



Diseases related to Cerebral Amyloid Angiopathy, Cst3-Related
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Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, Cst3-Related

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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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 9.66 GSN
2 Decreased viability GR00055-A-2 9.66 GSN
3 Decreased viability GR00055-A-3 9.66 GSN
4 Decreased viability GR00249-S 9.66 BACE1 MAPT PSEN1 SERPINA3 SNCA TTR
5 Decreased viability GR00381-A-1 9.66 ADAMTS1 CSTB
6 Decreased viability GR00386-A-1 9.66 ADAMTS1 APOE CSTB PSEN2 TTR
7 Decreased viability GR00402-S-2 9.66 BACE1 CST3 CST4 HSPB6 LRP1 MAPT

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

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.38 APOE APP BACE1 CSTB HSPB6 ITM2B
2 homeostasis/metabolism MP:0005376 10.38 ADAMTS1 APOE APP BACE1 CST3 CSTB
3 cellular MP:0005384 10.32 APOE APP BACE1 CST3 CSTB GSN
4 cardiovascular system MP:0005385 10.3 ADAMTS1 APOE APP CST3 GSN LRP1
5 hematopoietic system MP:0005397 10.24 ADAMTS1 APOE APP CSTB GSN LRP1
6 immune system MP:0005387 10.23 ADAMTS1 APOE APP CSTB GSN LRP1
7 mortality/aging MP:0010768 10.18 ADAMTS1 APOE APP BACE1 CST3 GSN
8 integument MP:0010771 10.17 APOE APP BACE1 GSN MAPT MME
9 nervous system MP:0003631 10.1 APOE APP BACE1 CST3 CSTB GSN
10 limbs/digits/tail MP:0005371 10.01 ADAMTS1 APOE APP CSTB LRP1 PRNP
11 muscle MP:0005369 9.97 APOE APP BACE1 CST3 CSTB LRP1
12 no phenotypic analysis MP:0003012 9.81 APOE APP BACE1 CSTB ITM2B MAPT
13 normal MP:0002873 9.61 APP BACE1 CST7 LRP1 MAPT PRNP
14 vision/eye MP:0005391 9.28 ADAMTS1 APOE CSTB HSPB6 MAPT PRNP
Sources

Drugs & Therapeutics for Cerebral Amyloid Angiopathy, Cst3-Related

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

(show top 50) (show all 116)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Inflammatory Agents, Non-Steroidal Phase 4
2 Antirheumatic Agents Phase 4
3 Pharmaceutical Solutions Phase 4
4 Pyranoprofen Phase 4
5 Omega 3 Fatty Acid Phase 4
6 Ophthalmic Solutions Phase 4
7
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
8
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
9
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
10
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
11
Pertuzumab Approved Phase 3 380610-27-5, 145040-37-5 2540
12
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
13
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
14 Antibiotics, Antitubercular Phase 3
15 Antimitotic Agents Phase 3
16 Albumin-Bound Paclitaxel Phase 3
17 Tubulin Modulators Phase 3
18 Anti-Bacterial Agents Phase 3
19
Liposomal doxorubicin Phase 3 31703
20 Alkylating Agents Phase 3
21
Testosterone enanthate Approved Phase 1, Phase 2 315-37-7 9416
22
Testosterone undecanoate Approved, Investigational Phase 1, Phase 2 5949-44-0
23
Medroxyprogesterone acetate Approved, Investigational Phase 1, Phase 2 71-58-9
24
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
25
Methyltestosterone Approved Phase 1, Phase 2 58-18-4 6010
26
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
27
Coal tar Approved Phase 1, Phase 2 8007-45-2
28 Hops Approved Phase 1, Phase 2
29
Prazosin Approved Phase 2 19216-56-9 4893
30
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
31
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
32
Ramipril Approved Phase 2 87333-19-5 5362129
33
Atenolol Approved Phase 2 29122-68-7 2249
34
Labetalol Approved Phase 2 36894-69-6 3869
35
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2 7487-88-9 24083
36
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
37
Bisoprolol Approved Phase 2 66722-44-9 2405
38
Propranolol Approved, Investigational Phase 2 525-66-6 4946
39
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
40
Pomalidomide Approved Phase 1, Phase 2 19171-19-8
41
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
42
Lenalidomide Approved Phase 1, Phase 2 191732-72-6 216326
43
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
44
leucovorin Approved Phase 2 58-05-9 6006
45
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
46 Acyline Investigational Phase 1, Phase 2 170157-13-8
47
Candesartan Experimental Phase 2 139481-59-7 2541
48 Ricolinostat Investigational Phase 1, Phase 2 1316214-52-4
49 Contraceptive Agents Phase 1, Phase 2
50 Contraceptives, Oral Phase 1, Phase 2

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 Treatment of Exudative Age-Related Macular Degeneration With Aflibercept Combined With Pranoprofen Eye Drops or Nutraceutical Support With Omega-3: A Randomized Trial Completed NCT03355638 Phase 4 Aflibercept Injection [Eylea];Pranoprofen Eyedrops;Omega-3 Supplementation
2 Application of Amyloid PET in Cerebral Amyloid Angiopathy Completed NCT03542656 Phase 3 amyloid PET
3 Multimodal Biomarkers for Diagnosis and Prognosis in Cerebral Amyloid Angiopathy Recruiting NCT03969732 Phase 3 1. amyloid PETï¼›2. T807 PET
4 MRI-visible Enlarged Perivascular Spaces and the Alteration of Lymphatic Drainage System in Cerebral Amyloid Angiopathy Recruiting NCT04604587 Phase 3 1. amyloid PETï¼›2. T807 PET
5 Atezolizumab, Pertuzumab and Trastuzumab With Chemotherapy as Neoadjuvant Treatment of HER2 Positive Early High-risk and Locally Advanced Breast Cancer (APTneo) Recruiting NCT03595592 Phase 3 Trastuzumab;Pertuzumab;Carboplatin;Paclitaxel;Doxorubicin;Cyclophosphamide;Atezolizumab
6 A Prospective Open-label Multi-center Study to Demonstrate the Safety and Efficacy of Cells Sheet-Autologous Chondrocyte Implantation（CS-ACI）for the Treatment of Articular Cartilage Defects Unknown status NCT01694823 Phase 1, Phase 2 CS-ACI
7 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
8 A Phase II Pilot Study of the Safety, Tolerability and Pharmacokinetics of Cerebrilâ„¢ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2 NC-758 (Anti amyloidotic [Aß] agent)
9 A Study of the Selective HDAC6 Inhibitor, ACY-1215, for the Treatment of Patients With Relapsed or Refractory Lymphoid Malignancies Completed NCT02091063 Phase 1, Phase 2 ACY-1215
10 Male Hormonal Contraceptive Development: Suppression of Spermatogenesis With the Addition of a Potent Antagonist (Acyline) to Testosterone and DMPA (ACY-5) Completed NCT00161447 Phase 1, Phase 2 Acyline;Testosterone Gel;Depo-Medroxyprogesterone
11 A Phase 1/2, Open-Label, Multicenter Study of ACY-1215 Administered Orally as Monotherapy and in Combination With Bortezomib and Dexamethasone for the Treatment of Relapsed or Relapsed/Refractory Multiple Myeloma Completed NCT01323751 Phase 1, Phase 2 ACY-1215
12 Male Hormonal Contraception Development: Suppression of Spermatogenesis With the Addition of a Potent GnRH Antagonist (Acyline) to Testosterone and DMPA (ACY-5) -Sub-Study (HOP 5) Completed NCT00156650 Phase 1, Phase 2 Acyline;Testosterone Gel;Depo-Medroxyprogesterone
13 A Phase Ib/IIa Multicenter, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Safety, Tolerability and Immunogenicity of Different Doses, Regimens and Combinations of Tau Targeted Vaccines in Subjects With Early Alzheimer's Disease Recruiting NCT04445831 Phase 1, Phase 2
14 Phase I/II Study to Evaluate Treatment of Relapsed B-cell Acute Lymphoblastic Leukemia After CD19 CAR-T Adoptive Cellular Immunotherapy With CAR-T Cells Targeting CD38 Recruiting NCT03754764 Phase 1, Phase 2
15 The Perioperative Use of Dexmedetomidine and Magnesium Sulfate Compared With Traditional Anesthetic Technique for Open Resection of Pheochromocytoma. Recruiting NCT04320589 Phase 2 Dexmedetomidine;General anesthetic
16 A Phase 1B/2 Multi-Center, Open Label, Dose-Escalation Study to Determine the Maximum Tolerated Dose, Safety, and Efficacy of ACY-1215 (RICOLINOSTAT) in Combination With Pomalidomide and Low-Dose Dexamethasone in Patients With Relapsed and Refractory Multiple Myeloma Active, not recruiting NCT01997840 Phase 1, Phase 2 ACY-1215 (Ricolinostat) in combination with pomalidomide and dexamethasone
17 A Phase 1/2, Open-Label, Multicenter Study of ACY-1215 (Ricolinostat) in Combination With Lenalidomide and Dexamethasone for the Treatment of Relapsed or Relapsed/Refractory Multiple Myeloma Active, not recruiting NCT01583283 Phase 1, Phase 2 ACY-1215;lenalidomide;Dexamethasone
18 A Phase 2 Double-blind, Randomized, Placebo-controlled Study to Assess the Safety, Tolerability and Target Engagement of ACI-24 in Adults With Down Syndrome Not yet recruiting NCT04373616 Phase 2
19 A Folinic Acid Intervention for ASD: Links to Folate Receptor-alpha Autoimmunity & Redox Metabolism Terminated NCT01602016 Phase 2 Folinic Acid and placebo;Folinic Acid
20 A Phase Ib Multi-Center, Double-Blind, Randomized, Placebo-Controlled Dose Escalation Study of the Safety, Tolerability and Immunogenicity of ACI-24 in Adults With Down Syndrome Completed NCT02738450 Phase 1
21 A Phase 1b Multi-Center, Open Label, Dose-Escalation Study to Determine the Maximum Tolerated Dose, Safety, and Anti-Tumor Activity of an Alternative Liquid Formulation of ACY-1215 (Ricolinostat) In Combination With Pomalidomide and Low-Dose Dexamethasone In Patients With Relapsed and Refractory Multiple Myeloma Completed NCT02189343 Phase 1 ACY-1215 in combination with pomalidomide and dexamethasone
22 Multi-center Phase IB Trial of ACY-1215 (Ricolinostat) Combined With Nab-paclitaxel in Unresectable or Metastatic Breast Cancer Completed NCT02632071 Phase 1 ACY-1215;Nab-paclitaxel
23 A Phase 1b Study of the Safety, Pharmacokinetics, and Preliminary Antitumor Activity of ACY 241 in Combination With Paclitaxel in Patients With Advanced Solid Tumors Completed NCT02551185 Phase 1 ACY-241
24 Open-Label, Randomized, Single Dose, 3-Period Crossover to Evaluate the Relative Bioavailability and Food-Effect on Pharmacokinetics of Alternative 10 mg/mL Liquid Formulation ACY-1215 (Ricolinostat) in Healthy Subjects Completed NCT02088398 Phase 1 ACY-1215
25 A Phase 1b Study of the Selective HDAC6 Inhibitor ACY-241 in Combination With Ipilimumab and Nivolumab in Patients With Unresectable Stage III or Stage IV Melanoma Completed NCT02935790 Phase 1 ACY-241;nivolumab;ipilimumab
26 A Phase Ib Study of ACY-1215 in Combination With BCR Pathway Inhibitors in Relapsed Chronic Lymphocytic Leukemia Active, not recruiting NCT02787369 Phase 1 ACY-1215;Ibrutinib;Idelalisib
27 A Phase 1b Study of the Selective HDAC6 Inhibitor ACY-241 in Combination With Nivolumab in Patients With Unresectable Non-Small Cell Lung Cancer Active, not recruiting NCT02635061 Phase 1 ACY-241;Nivolumab
28 A Phase 1a/1b Multicenter, Single-Arm, Open-Label, Dose-Escalation Study to Determine the Maximum Tolerated Dose, Safety, and Preliminary Activity of Oral ACY-241 Alone and in Combination With Pomalidomide and Low-Dose Dexamethasone in Patients With Relapsed or Relapsed-and-Refractory Multiple Myeloma Active, not recruiting NCT02400242 Phase 1 ACY-241;Pomalidomide;Dexamethasone
29 A Phase Ib, Open-Label, Dose- Escalation Trial of ACY-1215 in Combination With Gemcitabine and Cisplatin in Patients With Unresectable or Metastatic Cholangiocarcinoma Withdrawn NCT02856568 Phase 1 Cisplatin;Gemcitabine Hydrochloride;Ricolinostat
30 Observational Study on the Prognostic Relevance of Supratentorial Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Unknown status NCT01856699
31 A Research of the Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
32 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
33 Cerebral Infarction and White Substance in Angiopathy Cerebral Amyloid Completed NCT03262246
34 A Prospective, Multicenter Clinical Trial to Evaluate the Safety and Effectiveness of the AcuFocus Corneal Inlay (ACI)â„¢ ACI 7000PDT in Presbyopic Subjects Completed NCT00819299
35 A Prospective, Multicenter Clinical Trial to Evaluate the Safety and Effectiveness of the AcuFocus Corneal Inlay (ACI)â„¢ ACI 7000PDT in Presbyopic Subjects (OUS Study) Completed NCT00850031
36 Comparison of Resin Salve and Conventional Octenidine in Patients With Neuropathic Diabetic Foot Ulcers - a Prospective, Randomized and Controlled Clinical Trial Completed NCT02169167
37 A Prospective Multicenter Clinical Trial to Evaluate the Safety and Effectiveness of the AcuFocus Corneal Inlay ACI 7000PDT Implanted Intrastromally for Modified Monovision in Presbyopic Subjects Completed NCT01352442
38 Acute Cardiac Ischemia in Women in the ACI/TIPI Trial Completed NCT00005701
39 A Continuation Study To Monitor The Long Term Safety Of The AcuFocus â„¢ ACI 7000PDT Patients Completing Protocols ACU-P08-020/020A Completed NCT01895088
40 COrtical Superficial Siderosis and REcurrent Lobar Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344
41 SEarchiNg biomarkErs Cerebral Amyloid Angiopathy (SENECA): Italian Network for the Study of CAA Recruiting NCT04204642
42 Introduction of Autologous Chondrocyte Implantation Procedure for the Treatment of Chondral Defect in the Knee Recruiting NCT04296487
43 HSIL/ACIS/Early Cervical Cancer: What Are The Current Causative HPV Subtypes in the Era of HPV Vaccination? Recruiting NCT02937155
44 Extra-virgin Olive Oil Prevents Mild Cognitive Impairment Conversion to Alzheimer's Disease Active, not recruiting NCT03824197
45 A Randomized Trial Comparing Autologous Chondrocyte Implantation Using Collagen Membrane (ACI-C) Versus (Autologous Matrix Induced Chondrogenesis) AMIC for Repair of Cartilage Defects in the Knee Active, not recruiting NCT01458782
46 Single-center, Prospective, Controlled Study of the Safety and Efficacy of Aspirin and Clopidogrel in Ischemic Cardiovascular and Cerebrovascular Patients Complications With CAA Not yet recruiting NCT04654026 Aspirin/Clopidogrel
47 A Clinico-radiological Reappraisal of Cerebral Amyloid Angiopathy-related Inflammation in a Series of 28 Patients. Terminated NCT03187886
48 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

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Genetic Tests for Cerebral Amyloid Angiopathy, Cst3-Related

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

# Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy 29
Sources

Anatomical Context for 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, Heart, Eye
Sources

Publications for Cerebral Amyloid Angiopathy, Cst3-Related

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Articles related to Cerebral Amyloid Angiopathy, Cst3-Related:

(show top 50) (show all 2549)
# Title Authors PMID Year
1
Mutation in cystatin C gene causes hereditary brain haemorrhage. 57 6
2900981 1988
2
Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. 61 57
9748011 1998
3
Cerebral amyloid angiopathy. A critical review. 61 57
3551211 1987
4
Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. 61 57
3707586 1986
5
Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report. 61 57
4056911 1985
6
Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report. 57 61
4056910 1985
7
Fatal massive intracerebral hemorrhage complicating cerebral amyloid angiopathy. 61 57
637762 1978
8
A molecular genetic study of intracerebral hemorrhage. 57
7945009 1994
9
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
10
Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. 57
1352269 1992
11
Structure and expression of the human cystatin C gene. 6
2363674 1990
12
The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland. 57
2689007 1989
13
The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20. 6
2567273 1989
14
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. 57
3673496 1987
15
Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease. 57
3475718 1987
16
Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C. 57
3495457 1987
17
Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. 57
2436360 1987
18
Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C). 57
3517880 1986
19
Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis. 57
3982473 1985
20
Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. 57
6390199 1984
21
Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace. 57
6886625 1983
22
Autosomal dominant cerebrovascular amyloidosis: properties of peripheral blood lymphocytes. 57
7396423 1980
23
Hereditary cerebral haemorrhage with amyloidosis. 57
4655034 1972
24
Cerebral angiomata in an Icelandic family. 57
20241165 1947
25
Oligomeric Abeta in Alzheimer's disease: relationship to plaque and tangle pathology, APOE genotype and cerebral amyloid angiopathy. 61 54
19725829 2010
26
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 54 61
19911184 2010
27
Transglutaminases and transglutaminase-catalyzed cross-links colocalize with the pathological lesions in Alzheimer's disease brain. 61 54
18673368 2009
28
Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. 54 61
19684239 2009
29
Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy. 54 61
19743453 2009
30
SRF and myocardin regulate LRP-mediated amyloid-beta clearance in brain vascular cells. 61 54
19098903 2009
31
[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]. 54 61
18781290 2009
32
Consequence of Abeta immunization on the vasculature of human Alzheimer's disease brain. 61 54
18953056 2008
33
Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. 54 61
18282158 2008
34
Human apolipoprotein E4 targeted replacement mice show increased prevalence of intracerebral hemorrhage associated with vascular amyloid deposition. 61 54
18755411 2008
35
Amyloid beta peptide-activated signal pathways in human platelets. 54 61
18511035 2008
36
Cerebral amyloid angiopathy and its relationship to Alzheimer's disease. 61 54
18369648 2008
37
Interaction with amyloid beta peptide compromises the lipid binding function of apolipoprotein E. 61 54
18407659 2008
38
Human apolipoprotein E redistributes fibrillar amyloid deposition in Tg-SwDI mice. 54 61
18480287 2008
39
Apolipoprotein E, amyloid-beta, and blood-brain barrier permeability in Alzheimer disease. 54 61
18379441 2008
40
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. 61 54
18363936 2008
41
The contribution of cerebral vascular semicarbazide-sensitive amine oxidase to cerebral amyloid angiopathy in Alzheimer's disease. 61 54
17971074 2008
42
Molecular conformation and dynamics of the Y145Stop variant of human prion protein in amyloid fibrils. 54 61
18436646 2008
43
APOE genotype, ethnicity, and the risk of cerebral hemorrhage. 54 61
18256366 2008
44
Expression of amyloid beta peptide in human platelets: pivotal role of the phospholipase Cgamma2-protein kinase C pathway in platelet activation. 54 61
18313326 2008
45
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease. 54 61
18043715 2008
46
Lipoprotein receptor-related protein-1 mediates amyloid-beta-mediated cell death of cerebrovascular cells. 61 54
18055545 2007
47
Induction of complement proteins in a mouse model for cerebral microvascular A beta deposition. 54 61
17877807 2007
48
Loss of neprilysin function promotes amyloid plaque formation and causes cerebral amyloid angiopathy. 61 54
17591969 2007
49
Topographical distribution of cerebral amyloid angiopathy and its effect on cognitive decline are influenced by Alzheimer disease pathology. 61 54
17306303 2007
50
Heat shock proteins and amateur chaperones in amyloid-Beta accumulation and clearance in Alzheimer's disease. 61 54
17917109 2007
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Variations for Cerebral Amyloid Angiopathy, Cst3-Related

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ADAMTS1 NC_000021.7:g.13636378_28138533dup Duplication Pathogenic 127268 21:14714507-29216662
2 CST3 NM_000099.4(CST3):c.281T>A (p.Leu94Gln) SNV Pathogenic 5634 rs28939068 20:23615967-23615967 20:23635330-23635330
3 APP NM_000484.4(APP):c.2125G>A (p.Gly709Ser) SNV Likely pathogenic 638317 rs201269325 21:27264120-27264120 21:25891808-25891808
4 APP NM_000484.4(APP):c.2125G>A (p.Gly709Ser) SNV Likely pathogenic 638317 rs201269325 21:27264120-27264120 21:25891808-25891808
5 APP NM_001136131.3(APP):c.-49+166G>A SNV Uncertain significance 339658 rs761755102 21:27543137-27543137 21:26170819-26170819
6 APP NM_000484.4(APP):c.704C>T (p.Ala235Val) SNV Uncertain significance 898004 21:27394317-27394317 21:26022001-26022001
7 CST3 NM_000099.4(CST3):c.340C>T (p.Gln114Ter) SNV Uncertain significance 809236 rs1600363764 20:23615908-23615908 20:23635271-23635271

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

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Expression for Cerebral Amyloid Angiopathy, Cst3-Related

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

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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
Metabolism of proteins 65
Show member pathways
 13.56 TTR SNCA MME ITM2B GSN CST3
2
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 13.25 SNCA PSEN2 PSEN1 PRNP MME MAPT
3
Neuroscience 4
12.49 SNCA PSEN2 PSEN1 PRNP MAPT LRP1
4
Presenilin-Mediated Signaling 63
11.89 PSEN2 PSEN1 BACE1 APP
5
Alzheimers Disease 1
11.45 SNCA PSEN2 PSEN1 MME MAPT LRP1
6
Copper homeostasis 1
11.44 PRNP MAPT BACE1 APP
7
Alzheimers Disease Pathway 63
11.15 PSEN2 PSEN1 MAPT LRP1 BACE1 APP
8
A-beta Pathways: Uptake and Degradation 64
11.13 MME LRP1 APP APOE
9
A-beta Pathways: Plaque Formation and APP Metabolism 64
10.99 PSEN2 PSEN1 MME CST3 BACE1 APP
10
Notch Pathway 70
10.16 PSEN2 PSEN1
Sources

GO Terms for Cerebral Amyloid Angiopathy, Cst3-Related

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.39 SNCA PSEN2 PSEN1 PRNP MME MAPT
2 extracellular exosome GO:0070062 10.24 TTR SERPINA3 PRNP MME ITM2B GSN
3 cytoplasmic vesicle GO:0031410 10.07 PSEN1 MME CST7 BACE1 APP ADAMTS1
4 extracellular space GO:0005615 10.06 TTR SNCA SERPINA3 ITM2B GSN CSTB
5 endosome GO:0005768 10.02 PSEN1 LRP1 ITM2B CST7 BACE1 APP
6 cell surface GO:0009986 10.01 PSEN2 PSEN1 PRNP MME BACE1 APP
7 axon GO:0030424 9.99 SNCA PSEN1 MME MAPT BACE1 APP
8 endoplasmic reticulum lumen GO:0005788 9.91 CST3 BACE1 APP APOE
9 dendrite GO:0030425 9.91 PSEN1 PRNP MME MAPT LRP1 BACE1
10 early endosome GO:0005769 9.88 PSEN1 MME LRP1 BACE1 APP APOE
11 growth cone GO:0030426 9.85 SNCA PSEN2 PSEN1 MAPT APP
12 synaptic vesicle GO:0008021 9.83 SNCA PSEN1 MME BACE1 APP
13 membrane raft GO:0045121 9.8 PSEN2 PSEN1 PRNP MME MAPT BACE1
14 extracellular region GO:0005576 9.8 TTR SNCA SERPINA3 MAPT ITM2B HSPB6
15 neuromuscular junction GO:0031594 9.77 PSEN2 PSEN1 APP
16 rough endoplasmic reticulum GO:0005791 9.76 SNCA PSEN1 APP
17 neuronal cell body GO:0043025 9.76 SNCA PSEN2 PSEN1 MME MAPT LRP1
18 dendritic shaft GO:0043198 9.7 PSEN2 PSEN1 APP
19 ciliary rootlet GO:0035253 9.65 PSEN2 PSEN1 APP
20 gamma-secretase complex GO:0070765 9.57 PSEN2 PSEN1
21 main axon GO:0044304 9.56 MAPT APP
22 Golgi apparatus GO:0005794 9.4 SNCA PSEN2 PSEN1 PRNP LRP1 ITM2B

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

(show all 49)
# 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 response to oxidative stress GO:0006979 9.93 PSEN1 PRNP APP APOE
7 protein processing GO:0016485 9.89 PSEN2 PSEN1 MME BACE1
8 Notch signaling pathway GO:0007219 9.88 PSEN2 PSEN1 APP
9 negative regulation of protein phosphorylation GO:0001933 9.86 SNCA PSEN1 PRNP
10 positive regulation of protein binding GO:0032092 9.85 PSEN1 LRP1 APP
11 retinoid metabolic process GO:0001523 9.85 TTR LRP1 APOE
12 synapse organization GO:0050808 9.85 SNCA PSEN1 MAPT APP
13 negative regulation of endopeptidase activity GO:0010951 9.85 SERPINA3 PRNP CSTB CST4 CST3 APP
14 adult locomotory behavior GO:0008344 9.83 SNCA CSTB APP
15 protein destabilization GO:0031648 9.83 SNCA PRNP GSN
16 positive regulation of neuron death GO:1901216 9.82 SNCA PRNP MAPT
17 microglial cell activation GO:0001774 9.8 SNCA MAPT APP
18 negative regulation of proteolysis GO:0045861 9.8 CSTB CST4 CST3
19 positive regulation of endocytosis GO:0045807 9.79 SNCA LRP1 APOE
20 membrane protein ectodomain proteolysis GO:0006509 9.78 PSEN2 PSEN1 BACE1
21 response to lead ion GO:0010288 9.77 MAPT BACE1 APP
22 astrocyte activation GO:0048143 9.76 PSEN1 MAPT APP
23 cellular response to copper ion GO:0071280 9.76 SNCA PRNP BACE1 APP
24 amyloid precursor protein catabolic process GO:0042987 9.75 PSEN2 PSEN1 BACE1
25 negative regulation of long-term synaptic potentiation GO:1900272 9.74 PRNP APP APOE
26 supramolecular fiber organization GO:0097435 9.73 SNCA MAPT CST3
27 learning or memory GO:0007611 9.72 PSEN1 PRNP MME MAPT APP
28 amyloid fibril formation GO:1990000 9.71 MAPT GSN APP
29 amyloid-beta clearance GO:0097242 9.7 MME LRP1
30 cellular copper ion homeostasis GO:0006878 9.7 PRNP APP
31 positive regulation of receptor recycling GO:0001921 9.7 SNCA PSEN1
32 neuron projection maintenance GO:1990535 9.7 PSEN1 PRNP APP
33 amyloid precursor protein metabolic process GO:0042982 9.69 PSEN1 APOE
34 amyloid-beta formation GO:0034205 9.69 PSEN2 PSEN1 BACE1
35 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.68 PSEN1 APP
36 cellular response to manganese ion GO:0071287 9.68 BACE1 APP
37 Notch receptor processing GO:0007220 9.68 PSEN2 PSEN1
38 positive regulation of amyloid-beta clearance GO:1900223 9.67 LRP1 APOE
39 amyloid-beta clearance by cellular catabolic process GO:0150094 9.67 MME LRP1
40 modulation of age-related behavioral decline GO:0090647 9.67 PSEN1 PRNP APP
41 Notch receptor processing, ligand-dependent GO:0035333 9.66 PSEN2 PSEN1
42 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.64 PSEN1 APP
43 negative regulation of peptidase activity GO:0010466 9.63 SERPINA3 CSTB CST7 CST4 CST3 APP
44 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.62 PSEN1 APP
45 positive regulation of amyloid fibril formation GO:1905908 9.61 PSEN1 APP APOE
46 astrocyte activation involved in immune response GO:0002265 9.58 PSEN1 LRP1 APP
47 amyloid-beta metabolic process GO:0050435 9.56 PSEN2 PSEN1 MME BACE1
48 cellular response to amyloid-beta GO:1904646 9.35 PSEN1 PRNP LRP1 BACE1 APP
49 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 16)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.5 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
2 peptidase activity GO:0008233 9.91 PSEN2 PSEN1 MME BACE1 ADAMTS1
3 chaperone binding GO:0051087 9.71 PRNP MAPT HSPB6
4 protease binding GO:0002020 9.62 PRNP LRP1 CSTB CST3
5 endopeptidase inhibitor activity GO:0004866 9.58 CSTB CST7 CST3
6 heparan sulfate proteoglycan binding GO:0043395 9.56 LRP1 APOE
7 endopeptidase activity GO:0004175 9.56 PSEN2 PSEN1 MME BACE1
8 apolipoprotein binding GO:0034185 9.55 MAPT LRP1
9 aspartic-type endopeptidase activity GO:0004190 9.54 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 cuprous ion binding GO:1903136 9.46 SNCA PRNP
13 cysteine-type endopeptidase inhibitor activity GO:0004869 9.46 CSTB CST7 CST4 CST3
14 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.43 PSEN2 PSEN1
15 peptidase inhibitor activity GO:0030414 9.43 SERPINA3 CSTB CST7 CST4 CST3 APP
16 amyloid-beta binding GO:0001540 9.1 PRNP LRP1 ITM2B CST3 BACE1 APOE
Sources

Sources for Cerebral Amyloid Angiopathy, Cst3-Related

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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