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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
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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 73 20 72 36 29 13 54 15 17 70 32
Hereditary Cerebral Hemorrhage with Amyloidosis 57 12 20 58 72 6
Hchwa 57 12 20 58 72
Hereditary Cystatin C Amyloid Angiopathy 58 72 70
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 72
Hereditary Cerebral Hemorrhage with Amyloidosis; Hchwa 57
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 70
Angiopathy, Amyloid, Cerebral, Cst3-Related 39
Cerebroarterial Amyloidosis Icelandic Type 72
Cerebral Amyloid Angiopathy Cst3-Related 72
Cerebral Amyloid Angiopathy, Hereditary 70
Cerebral Amyloid Angiopathy, Genetic 20
Familial Cerebral Amyloid Angiopathy 70
Cerebral Amyloid Angiopathy Familial 54
Cst3-Related Amyloidosis 58
Cystatin C Amyloidosis 72
Hchwa, Icelandic Type 58
Cystatin Amyloidosis 58
Acys Amyloidosis 58
Caa, Familial 20
Amyloidosis 6 72
Hchwa-I 72
Hchwai 72
Hccaa 72
Amyl6 72
Acys 72
Caa 72

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 20-May-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 71 C1510489 C1527338
UMLS 70 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 Pathways of neurodegeneration - multiple diseases. The drugs Antirheumatic Agents and Anti-Inflammatory Agents, Non-Steroidal 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 20-May-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 : 72 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 : 73 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 305)
# Related Disease Score Top Affiliating Genes
1 gerstmann-straussler disease 32.3 TTR SNCA PSEN2 PSEN1 PRNP MAPT
2 cerebral amyloid angiopathy, itm2b-related, 2 32.0 SERPINA3 ITM2B APP
3 hemorrhage, intracerebral 31.6 CST3 APP APOE
4 cerebral amyloid angiopathy, itm2b-related, 1 31.4 SERPINA3 PSEN2 PSEN1 PRNP ITM2B GSN
5 mild cognitive impairment 31.2 MAPT LRP1 CST3 BACE1 APP APOE
6 apraxia 31.1 PSEN1 MAPT APOE
7 vascular dementia 31.1 SERPINA3 PSEN1 PRNP MAPT CST3 BACE1
8 binswanger's disease 31.0 MAPT APP APOE
9 hereditary cerebral amyloid angiopathy 31.0 CST3 APP
10 akinetic mutism 30.9 SNCA PRNP MAPT
11 aphasia 30.8 SNCA PSEN2 PSEN1 PRNP MAPT APP
12 hydrocephalus 30.8 TTR SERPINA3 PSEN1 MAPT APP APOE
13 stroke, ischemic 30.8 SERPINA3 PSEN1 MAPT CST3 BACE1 APOE
14 arteriolosclerosis 30.8 SNCA SERPINA3 MAPT APP APOE
15 prion disease 30.7 SNCA PRNP MAPT APP
16 senile plaque formation 30.7 APP APOE
17 down syndrome 30.7 SERPINA3 PSEN1 MAPT BACE1 APP APOE
18 autosomal dominant cerebellar ataxia 30.7 SNCA SERPINA3 PRNP MAPT APP
19 creutzfeldt-jakob disease 30.6 SNCA SERPINA3 PRNP MAPT CST3 BACE1
20 hereditary amyloidosis 30.6 TTR GSN
21 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.6 PRNP MAPT
22 amnestic disorder 30.5 PSEN1 MAPT APP APOE
23 normal pressure hydrocephalus 30.5 TTR SERPINA3 PSEN1 MAPT APP APOE
24 communicating hydrocephalus 30.4 SNCA SERPINA3 PSEN1 MAPT APP APOE
25 amyloidosis, finnish type 30.4 TTR SERPINA3 GSN APOE
26 prosopagnosia 30.4 PSEN2 MAPT
27 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 30.4 SERPINA3 APP APOE
28 huntington disease 30.3 SNCA PSEN2 PRNP MAPT APP
29 cerebral amyloid angiopathy, app-related 30.3 SERPINA3 PSEN2 PSEN1 LRP1 ITM2B GSN
30 ideomotor apraxia 30.3 SNCA PSEN2 PRNP MAPT APOE
31 amyloidosis, hereditary, transthyretin-related 30.3 TTR SNCA PRNP GSN APP
32 supranuclear palsy, progressive, 1 30.2 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
33 cerebrovascular disease 30.2 TTR SERPINA3 MAPT APP APOE
34 scrapie 30.2 SNCA SERPINA3 PRNP MAPT APP APOE
35 dementia, lewy body 30.1 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
36 frontotemporal dementia 30.0 SNCA PSEN2 PSEN1 PRNP MAPT APP
37 multiple system atrophy 1 30.0 SNCA SERPINA3 PRNP MAPT
38 early-onset, autosomal dominant alzheimer disease 30.0 PSEN2 PSEN1 MAPT APP APOE
39 alzheimer disease 29.9 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
40 motor neuron disease 29.9 SNCA SERPINA3 MAPT APP APOE
41 movement disease 29.8 SNCA SERPINA3 PSEN1 MAPT APP APOE
42 parkinson disease, late-onset 29.7 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
43 peripheral nervous system disease 29.6 TTR SNCA SERPINA3 PSEN1 MAPT BACE1
44 amyotrophic lateral sclerosis 1 29.5 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
45 dementia 29.1 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
46 amyloidosis 29.0 TTR SNCA SERPINA3 PSEN1 PRNP MME
47 aural atresia, congenital 11.7
48 cerebral cavernous malformation, familial 11.3
49 abri amyloidosis 11.3
50 lysinuric protein intolerance 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 20-May-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 20-May-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 9.98 GSN
2 Decreased viability GR00055-A-2 9.98 GSN
3 Decreased viability GR00055-A-3 9.98 GSN
4 Decreased viability GR00240-S-1 9.98 CST8
5 Decreased viability GR00249-S 9.98 BACE1 MAPT PSEN1 SERPINA3 SNCA TTR
6 Decreased viability GR00381-A-1 9.98 CSTB
7 Decreased viability GR00386-A-1 9.98 APOE CSTB PSEN2 TTR
8 Decreased viability GR00402-S-2 9.98 BACE1 CST3 CST4 HSPB6 LRP1 MAPT
9 Increased the percentage of infected cells GR00402-S-1 8.32 CST8

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

46 (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 homeostasis/metabolism MP:0005376 10.31 APOE APP BACE1 CST3 CSTB GSN
3 cellular MP:0005384 10.27 APOE APP BACE1 CST3 CSTB GSN
4 cardiovascular system MP:0005385 10.22 APOE APP CST3 GSN LRP1 MAPT
5 immune system MP:0005387 10.14 APOE APP CSTB GSN LRP1 MAPT
6 integument MP:0010771 10.11 APOE APP BACE1 GSN MAPT MME
7 nervous system MP:0003631 10 APOE APP BACE1 CST3 CSTB GSN
8 muscle MP:0005369 9.91 APOE APP BACE1 CST3 CSTB LRP1
9 limbs/digits/tail MP:0005371 9.87 APOE APP CSTB LRP1 PRNP PSEN1
10 no phenotypic analysis MP:0003012 9.65 APOE APP BACE1 CST8 CSTB ITM2B
11 normal MP:0002873 9.28 APP BACE1 CST7 LRP1 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 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antirheumatic Agents Phase 4
2 Anti-Inflammatory Agents, Non-Steroidal Phase 4
3 Pharmaceutical Solutions Phase 4
4 Omega 3 Fatty Acid Phase 4
5 Ophthalmic Solutions Phase 4
6 Pyranoprofen Phase 4
7
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
8
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
9
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
10
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
11
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
12
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
13
Pertuzumab Approved Phase 3 380610-27-5, 145040-37-5 2540
14
Liposomal doxorubicin Phase 3 31703
15 Antimitotic Agents Phase 3
16 Albumin-Bound Paclitaxel Phase 3
17 Antibiotics, Antitubercular Phase 3
18 Tubulin Modulators Phase 3
19 Alkylating Agents Phase 3
20 Anti-Bacterial Agents Phase 3
21
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
22
Medroxyprogesterone acetate Approved, Investigational Phase 1, Phase 2 71-58-9
23
Methyltestosterone Approved Phase 1, Phase 2 58-18-4 6010
24
Testosterone undecanoate Approved, Investigational Phase 1, Phase 2 5949-44-0
25
Testosterone enanthate Approved Phase 1, Phase 2 315-37-7 9416
26
Testosterone Approved, Investigational Phase 1, Phase 2 58-22-0 6013
27
Coal tar Approved Phase 1, Phase 2 8007-45-2
28 Hops Approved Phase 1, Phase 2
29
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
30
Prazosin Approved Phase 2 19216-56-9 4893
31
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
32
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 2 7487-88-9 24083
33
Ramipril Approved Phase 2 87333-19-5 5362129
34
Labetalol Approved Phase 2 36894-69-6 3869
35
Atenolol Approved Phase 2 29122-68-7 2249
36
Bisoprolol Approved Phase 2 66722-44-9 2405
37
Propranolol Approved, Investigational Phase 2 525-66-6 4946
38
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
39
Pomalidomide Approved Phase 1, Phase 2 19171-19-8
40
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1, Phase 2 1177-87-3
41
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2 50-02-2 5743
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, Male Phase 1, Phase 2
50
Medroxyprogesterone Phase 1, Phase 2 520-85-4 10631

Interventional clinical trials:

(show all 50)
# 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 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)
8 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
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 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
11 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
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 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
22 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
23 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
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 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
27 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
28 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
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 HSIL/ACIS/Early Cervical Cancer: What Are The Current Causative HPV Subtypes in the Era of HPV Vaccination? Unknown status NCT02937155
33 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
34 Detailed Clinical and MRI Characteristics in Primary Non-traumatic Convexity Subarachnoid Haemorrhage Elderly Patients. Completed NCT04825808
35 Cerebral Infarction and White Substance in Angiopathy Cerebral Amyloid Completed NCT03262246
36 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
37 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
38 Comparison of Resin Salve and Conventional Octenidine in Patients With Neuropathic Diabetic Foot Ulcers - a Prospective, Randomized and Controlled Clinical Trial Completed NCT02169167
39 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
40 Acute Cardiac Ischemia in Women in the ACI/TIPI Trial Completed NCT00005701
41 A Continuation Study To Monitor The Long Term Safety Of The AcuFocus â„¢ ACI 7000PDT Patients Completing Protocols ACU-P08-020/020A Completed NCT01895088
42 COrtical Superficial Siderosis and REcurrent Lobar Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344
43 SEarchiNg biomarkErs Cerebral Amyloid Angiopathy (SENECA): Italian Network for the Study of CAA Recruiting NCT04204642
44 Introduction of Autologous Chondrocyte Implantation Procedure for the Treatment of Chondral Defect in the Knee Recruiting NCT04296487
45 Extra-virgin Olive Oil Prevents Mild Cognitive Impairment Conversion to Alzheimer's Disease Active, not recruiting NCT03824197
46 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
47 Safety and Efficacy of Remote Ischemic Conditioning in Patients With Cerebral Amyloid Angiopathy-related Intracerebral Hemorrhage:A Multicenter, Randomized, Controlled Study Not yet recruiting NCT04757597
48 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
49 A Clinico-radiological Reappraisal of Cerebral Amyloid Angiopathy-related Inflammation in a Series of 28 Patients. Terminated NCT03187886
50 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, Heart, Smooth Muscle, Spleen, 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 2589)
# Title Authors PMID Year
1
Mutation in cystatin C gene causes hereditary brain haemorrhage. 57 6
2900981 1988
2
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy. 6 54 61
16921174 2006
3
Large APP locus duplication in a sporadic case of cerebral haemorrhage. 61 6
24691562 2014
4
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. 61 6
16369530 2006
5
Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. 57 61
9748011 1998
6
Cerebral amyloid angiopathy. A critical review. 61 57
3551211 1987
7
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
8
Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report. 57 61
4056911 1985
9
Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report. 61 57
4056910 1985
10
Fatal massive intracerebral hemorrhage complicating cerebral amyloid angiopathy. 61 57
637762 1978
11
A molecular genetic study of intracerebral hemorrhage. 57
7945009 1994
12
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
13
Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. 57
1352269 1992
14
Structure and expression of the human cystatin C gene. 6
2363674 1990
15
The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland. 57
2689007 1989
16
The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20. 6
2567273 1989
17
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. 57
3673496 1987
18
Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease. 57
3475718 1987
19
Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C. 57
3495457 1987
20
Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. 57
2436360 1987
21
Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C). 57
3517880 1986
22
Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis. 57
3982473 1985
23
Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. 57
6390199 1984
24
Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace. 57
6886625 1983
25
Autosomal dominant cerebrovascular amyloidosis: properties of peripheral blood lymphocytes. 57
7396423 1980
26
Hereditary cerebral haemorrhage with amyloidosis. 57
4655034 1972
27
Cerebral angiomata in an Icelandic family. 57
20241165 1947
28
Oligomeric Abeta in Alzheimer's disease: relationship to plaque and tangle pathology, APOE genotype and cerebral amyloid angiopathy. 61 54
19725829 2010
29
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 54 61
19911184 2010
30
Transglutaminases and transglutaminase-catalyzed cross-links colocalize with the pathological lesions in Alzheimer's disease brain. 54 61
18673368 2009
31
Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. 54 61
19684239 2009
32
Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy. 54 61
19743453 2009
33
SRF and myocardin regulate LRP-mediated amyloid-beta clearance in brain vascular cells. 61 54
19098903 2009
34
[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]. 61 54
18781290 2009
35
Consequence of Abeta immunization on the vasculature of human Alzheimer's disease brain. 54 61
18953056 2008
36
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
37
Human apolipoprotein E4 targeted replacement mice show increased prevalence of intracerebral hemorrhage associated with vascular amyloid deposition. 54 61
18755411 2008
38
Amyloid beta peptide-activated signal pathways in human platelets. 54 61
18511035 2008
39
Cerebral amyloid angiopathy and its relationship to Alzheimer's disease. 54 61
18369648 2008
40
Interaction with amyloid beta peptide compromises the lipid binding function of apolipoprotein E. 61 54
18407659 2008
41
Human apolipoprotein E redistributes fibrillar amyloid deposition in Tg-SwDI mice. 54 61
18480287 2008
42
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. 54 61
18363936 2008
43
The contribution of cerebral vascular semicarbazide-sensitive amine oxidase to cerebral amyloid angiopathy in Alzheimer's disease. 61 54
17971074 2008
44
Apolipoprotein E, amyloid-beta, and blood-brain barrier permeability in Alzheimer disease. 54 61
18379441 2008
45
APOE genotype, ethnicity, and the risk of cerebral hemorrhage. 61 54
18256366 2008
46
Molecular conformation and dynamics of the Y145Stop variant of human prion protein in amyloid fibrils. 61 54
18436646 2008
47
Expression of amyloid beta peptide in human platelets: pivotal role of the phospholipase Cgamma2-protein kinase C pathway in platelet activation. 61 54
18313326 2008
48
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease. 54 61
18043715 2008
49
Lipoprotein receptor-related protein-1 mediates amyloid-beta-mediated cell death of cerebrovascular cells. 61 54
18055545 2007
50
Induction of complement proteins in a mouse model for cerebral microvascular A beta deposition. 61 54
17877807 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 Position
1 CST3 NM_000099.4(CST3):c.244-1G>T SNV Pathogenic 1032193 GRCh37: 20:23616005-23616005
GRCh38: 20:23635368-23635368
2 overlap with 25 genes NC_000021.7:g.13636378_28138533dup Duplication Pathogenic 127268 GRCh37: 21:14714507-29216662
GRCh38:
3 CST3 NM_000099.4(CST3):c.281T>A (p.Leu94Gln) SNV Pathogenic 5634 rs28939068 GRCh37: 20:23615967-23615967
GRCh38: 20:23635330-23635330
4 APP NM_000484.4(APP):c.2125G>A (p.Gly709Ser) SNV Likely pathogenic 638317 rs201269325 GRCh37: 21:27264120-27264120
GRCh38: 21:25891808-25891808
5 APP NM_000484.4(APP):c.2125G>A (p.Gly709Ser) SNV Likely pathogenic 638317 rs201269325 GRCh37: 21:27264120-27264120
GRCh38: 21:25891808-25891808
6 CST3 NM_000099.4(CST3):c.340C>T (p.Gln114Ter) SNV Uncertain significance 809236 rs1600363764 GRCh37: 20:23615908-23615908
GRCh38: 20:23635271-23635271
7 APP NM_001136131.3(APP):c.-49+166G>A SNV Uncertain significance 339658 rs761755102 GRCh37: 21:27543137-27543137
GRCh38: 21:26170819-26170819
8 APP NM_000484.4(APP):c.704C>T (p.Ala235Val) SNV Uncertain significance 898004 GRCh37: 21:27394317-27394317
GRCh38: 21:26022001-26022001

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

72
# 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
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 13.25 SNCA PSEN2 PSEN1 PRNP MME MAPT
2
Neuroscience 4
12.49 SNCA PSEN2 PSEN1 PRNP MAPT LRP1
3
Presenilin-Mediated Signaling 63
11.89 PSEN2 PSEN1 BACE1 APP
4
Alzheimers Disease 1
11.45 SNCA PSEN2 PSEN1 MME MAPT LRP1
5
Copper homeostasis 1
11.44 PRNP MAPT BACE1 APP
6
Alzheimers Disease Pathway 63
11.15 PSEN2 PSEN1 MAPT LRP1 BACE1 APP
7
A-beta Pathways: Uptake and Degradation 64
11.13 MME LRP1 APP APOE
8
A-beta Pathways: Plaque Formation and APP Metabolism 64
10.99 PSEN2 PSEN1 MME CST3 BACE1 APP
9
Notch Pathway 69
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 cytoplasm GO:0005737 10.44 TTR SNCA PSEN1 PRNP MME MAPT
2 plasma membrane GO:0005886 10.39 SNCA PSEN2 PSEN1 PRNP MME MAPT
3 extracellular exosome GO:0070062 10.24 TTR SERPINA3 PRNP MME ITM2B GSN
4 extracellular space GO:0005615 10.06 TTR SNCA SERPINA3 ITM2B GSN CSTB
5 cell surface GO:0009986 10.05 PSEN2 PSEN1 PRNP MME CST8 BACE1
6 endosome GO:0005768 10.02 PSEN1 LRP1 ITM2B CST7 BACE1 APP
7 axon GO:0030424 10 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 9.71 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 top 50) (show all 51)
# 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 adult locomotory behavior GO:0008344 9.83 SNCA CSTB APP
14 protein destabilization GO:0031648 9.83 SNCA PRNP GSN
15 positive regulation of neuron death GO:1901216 9.82 SNCA PRNP MAPT
16 microglial cell activation GO:0001774 9.8 SNCA MAPT APP
17 negative regulation of proteolysis GO:0045861 9.8 CSTB CST4 CST3
18 positive regulation of endocytosis GO:0045807 9.79 SNCA LRP1 APOE
19 membrane protein ectodomain proteolysis GO:0006509 9.78 PSEN2 PSEN1 BACE1
20 response to lead ion GO:0010288 9.77 MAPT BACE1 APP
21 learning or memory GO:0007611 9.77 PSEN1 PRNP MME MAPT 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 regulation of long-term neuronal synaptic plasticity GO:0048169 9.71 SNCA APP
28 regulation of neuronal synaptic plasticity GO:0048168 9.71 SNCA APOE
29 amyloid fibril formation GO:1990000 9.71 MAPT GSN APP
30 amyloid-beta clearance GO:0097242 9.7 MME LRP1
31 cellular copper ion homeostasis GO:0006878 9.7 PRNP APP
32 positive regulation of receptor recycling GO:0001921 9.7 SNCA PSEN1
33 neuron projection maintenance GO:1990535 9.7 PSEN1 PRNP APP
34 negative regulation of endopeptidase activity GO:0010951 9.7 SERPINA3 PRNP CSTB CST8 CST4 CST3
35 amyloid precursor protein metabolic process GO:0042982 9.69 PSEN1 APOE
36 amyloid-beta formation GO:0034205 9.69 PSEN2 PSEN1 BACE1
37 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.68 PSEN1 APP
38 cellular response to manganese ion GO:0071287 9.68 BACE1 APP
39 Notch receptor processing GO:0007220 9.68 PSEN2 PSEN1
40 positive regulation of amyloid-beta clearance GO:1900223 9.67 LRP1 APOE
41 amyloid-beta clearance by cellular catabolic process GO:0150094 9.67 MME LRP1
42 modulation of age-related behavioral decline GO:0090647 9.67 PSEN1 PRNP APP
43 Notch receptor processing, ligand-dependent GO:0035333 9.66 PSEN2 PSEN1
44 cellular response to amyloid-beta GO:1904646 9.65 PSEN1 PRNP LRP1 BACE1 APP
45 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.64 PSEN1 APP
46 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.62 PSEN1 APP
47 amyloid-beta metabolic process GO:0050435 9.62 PSEN2 PSEN1 MME BACE1
48 positive regulation of amyloid fibril formation GO:1905908 9.61 PSEN1 APP APOE
49 astrocyte activation involved in immune response GO:0002265 9.58 PSEN1 LRP1 APP
50 negative regulation of peptidase activity GO:0010466 9.5 SERPINA3 CSTB CST8 CST7 CST4 CST3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.69 PRNP MAPT HSPB6
2 protease binding GO:0002020 9.62 PRNP LRP1 CSTB CST3
3 endopeptidase inhibitor activity GO:0004866 9.58 CSTB CST7 CST3
4 endopeptidase activity GO:0004175 9.56 PSEN2 PSEN1 MME BACE1
5 cysteine-type endopeptidase inhibitor activity GO:0004869 9.55 CSTB CST8 CST7 CST4 CST3
6 heparan sulfate proteoglycan binding GO:0043395 9.54 LRP1 APOE
7 aspartic-type endopeptidase activity GO:0004190 9.54 PSEN2 PSEN1 BACE1
8 apolipoprotein binding GO:0034185 9.52 MAPT LRP1
9 growth factor receptor binding GO:0070851 9.49 PSEN1 APP
10 lipoprotein particle binding GO:0071813 9.48 MAPT APOE
11 cuprous ion binding GO:1903136 9.46 SNCA PRNP
12 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.43 PSEN2 PSEN1
13 amyloid-beta binding GO:0001540 9.43 PRNP LRP1 ITM2B CST3 BACE1 APOE
14 peptidase inhibitor activity GO:0030414 9.17 SERPINA3 CSTB CST8 CST7 CST4 CST3
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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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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