AMYL6
MCID: CRB172
MIFTS: 62

Cerebral Amyloid Angiopathy, Cst3-Related (AMYL6)

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Aliases & Classifications for Cerebral Amyloid Angiopathy, Cst3-Related

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

Name: Cerebral Amyloid Angiopathy, Cst3-Related 57 5
Cerebral Amyloid Angiopathy 57 11 19 75 73 28 12 53 14 16 71 31
Hereditary Cerebral Hemorrhage with Amyloidosis 57 11 19 58 73 5
Hchwa 57 11 19 58 73
Hereditary Cystatin C Amyloid Angiopathy 58 73 71
Cerebral Amyloid Angiopathy, Familial 19 75 43
Cerebral Hemorrhage, Hereditary, with Amyloidosis 57 11
Amyloidosis, Cerebroarterial, Icelandic Type 57 11
Cst3-Related Cerebral Amyloid Angiopathy 11 14
Amyloidosis Vi 57 11
Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant 11
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant 11
Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Type 58
Hereditary Cerebral Hemorrhage with Amyloidosis Icelandic Type 73
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 71
Angiopathy, Amyloid, Cerebral, Cst3-Related 38
Cerebroarterial Amyloidosis Icelandic Type 73
Cerebral Amyloid Angiopathy Cst3-Related 73
Cerebral Amyloid Angiopathy, Hereditary 71
Cerebral Amyloid Angiopathy, Genetic 19
Familial Cerebral Amyloid Angiopathy 71
Cerebral Amyloid Angiopathy Familial 53
Cst3-Related Amyloidosis 58
Cystatin C Amyloidosis 73
Hchwa, Icelandic Type 58
Cystatin Amyloidosis 58
Acys Amyloidosis 58
Caa, Familial 19
Amyloidosis 6 73
Hchwa-I 73
Hchwai 73
Amyl6 73
Hccaa 73
Acys 73
Caa 73

Characteristics:


Inheritance:

Cerebral Amyloid Angiopathy, Cst3-Related: Autosomal dominant 57
Hereditary Cerebral Hemorrhage with Amyloidosis: Autosomal dominant 58
Acys Amyloidosis: Autosomal dominant 58

Prevelance:

Hereditary Cerebral Hemorrhage with Amyloidosis: <1/1000000 (Worldwide) 58
Acys Amyloidosis: <1/1000000 (Worldwide) 58

Age Of Onset:

Hereditary Cerebral Hemorrhage with Amyloidosis: Adult 58
Acys Amyloidosis: Adolescent,Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset 3rd to 4th decade of life
death before age 40
icelandic families


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 11 DOID:0070027 DOID:9246
OMIM® 57 105150
MeSH 43 D028243
SNOMED-CT 68 45639009
ICD10 31 I68.0
ICD10 via Orphanet 32 E85.4+ I68.0*
UMLS via Orphanet 72 C1510489 C1527338
UMLS 71 C0085220 C0268393 C1510489 more

Summaries for Cerebral Amyloid Angiopathy, Cst3-Related

GARD: 19 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. The Dutch, Arctic, Piedmont, Iowa, Flemish, Italian types are caused by genetic changes in the APP gene The British and Danish types are caused by genetic changes in the ITM2B gene The Icelandic type is caused by genetic changes in the CST3 gene All types of HCHWA currently described are inherited in an autosomal dominant manner.

MalaCards based summary: Cerebral Amyloid Angiopathy, Cst3-Related, also known as cerebral amyloid angiopathy, is related to cerebral amyloid angiopathy, app-related and gerstmann-straussler disease. An important gene associated with Cerebral Amyloid Angiopathy, Cst3-Related is CST3 (Cystatin C), and among its related pathways/superpathways are Alzheimer's disease and miRNA effects and Presenilin-Mediated Signaling. The drugs Phenol and Acetylsalicylic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spleen, and related phenotypes are stroke and cerebral hemorrhage

Orphanet 58 Acys amyloidosis: A form of hereditary cerebral hemorrhage with amyloidosis characterized by an age of onset of 20-30 years, major systemic amyloidosis and recurrent lobar intracerebral hemorrhages. Unlike other forms of hereditary cerebral hemorrhage with amyloidosis, this subtype is due to a mutation in the CST3 gene (20p11.2), encoding the precursor protein cystatin C.

Hereditary cerebral hemorrhage with amyloidosis: A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology 11 Cst3-related cerebral amyloid angiopathy: A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of CST3 on chromosome 20p11.21.

Cerebral amyloid angiopathy: 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 08-Dec-2022)

Wikipedia: 75 Cerebral amyloid angiopathy (CAA) is a form of angiopathy in which amyloid beta peptide deposits in the... more...

Related Diseases for Cerebral Amyloid Angiopathy, Cst3-Related

Diseases in the Hereditary Cerebral Amyloid Angiopathy family:

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

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

(show top 50) (show all 398)
# Related Disease Score Top Affiliating Genes
1 cerebral amyloid angiopathy, app-related 33.1 SERPINA3 PSEN2 PSEN1 LRP1 ITM2B GSN
2 gerstmann-straussler disease 32.4 TTR SNCA SERPINA3 PSEN2 PSEN1 PRNP
3 cerebral amyloid angiopathy, itm2b-related, 2 32.0 SERPINA3 ITM2B APP
4 hemorrhage, intracerebral 31.6 CST3 APP APOE
5 cerebral amyloid angiopathy, itm2b-related, 1 31.5 SERPINA3 PSEN2 PSEN1 PRNP ITM2B GSN
6 amyloidosis, hereditary, transthyretin-related 31.2 TTR SNCA GSN APP APOE
7 binswanger's disease 31.1 MAPT APP APOE
8 mild cognitive impairment 31.0 SNCA SERPINA3 PSEN2 PSEN1 MAPT CLU
9 down syndrome 31.0 SERPINA3 PSEN1 MAPT BACE1 APP APOE
10 vascular dementia 31.0 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
11 arteriolosclerosis 30.9 SNCA SERPINA3 MAPT APP APOE
12 akinetic mutism 30.9 SNCA PRNP MAPT
13 amyloidosis, finnish type 30.8 TTR SERPINA3 GSN CST3 APOE
14 creutzfeldt-jakob disease 30.8 SNCA SERPINA3 PSEN1 PRNP MAPT CST3
15 hydrocephalus 30.8 TTR SNCA SERPINA3 PSEN1 MAPT APP
16 autosomal dominant cerebellar ataxia 30.8 SNCA SERPINA3 PSEN1 PRNP MAPT APP
17 hereditary amyloidosis 30.7 TTR GSN
18 alzheimer disease 2 30.7 SNCA SERPINA3 APP APOE
19 senile plaque formation 30.6 APP APOE
20 alzheimer disease 19 30.6 SERPINA3 PSEN2 PSEN1 APP APOE
21 alzheimer disease 3 30.6 PSEN2 PSEN1 BACE1 APP APOE
22 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.6 PRNP MAPT
23 cerebral atherosclerosis 30.6 SERPINA3 APP APOE
24 prion disease 30.6 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
25 toxic encephalopathy 30.5 SNCA SERPINA3 PSEN1 PRNP MAPT BACE1
26 wild-type amyloidosis 30.5 TTR SERPINA3 GSN
27 communicating hydrocephalus 30.5 SNCA SERPINA3 PSEN1 MAPT APP APOE
28 pseudobulbar palsy 30.5 SNCA PRNP MAPT
29 alzheimer disease 11 30.5 PSEN1 MAPT
30 alzheimer disease 4 30.4 PSEN2 PSEN1 BACE1 APOE
31 parkinsonism 30.4 SNCA PSEN1 MAPT APP APOE
32 supranuclear palsy, progressive, 1 30.4 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
33 normal pressure hydrocephalus 30.4 SNCA SERPINA3 PSEN2 PSEN1 MAPT APP
34 prosopagnosia 30.4 PSEN2 MAPT
35 stroke, ischemic 30.4 SERPINA3 PSEN1 MAPT CST3 BACE1 APOE
36 huntington disease 30.4 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
37 hyperhomocysteinemia 30.4 TTR CST3 APOE
38 nominal aphasia 30.4 SNCA PSEN2 PSEN1 MAPT APOE
39 frontotemporal dementia 30.3 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
40 pick disease of brain 30.3 SNCA SERPINA3 PSEN2 PSEN1 PRNP MAPT
41 amnestic disorder 30.3 PSEN2 PSEN1 MAPT BACE1 APP APOE
42 ideomotor apraxia 30.3 SNCA PSEN2 PSEN1 PRNP MAPT APOE
43 scrapie 30.2 SNCA SERPINA3 PRNP MAPT CLU APP
44 schizophrenia 30.1 SNCA SERPINA3 PSEN1 MAPT BACE1 APP
45 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 30.1 SNCA PSEN1 MAPT APP
46 multiple system atrophy 1 30.1 SNCA SERPINA3 PRNP MAPT
47 psychotic disorder 30.0 SERPINA3 PSEN1 APP APOE
48 motor neuron disease 29.9 SNCA SERPINA3 MAPT APP APOE
49 central nervous system disease 29.9 TTR SNCA SERPINA3 MAPT APP
50 polyneuropathy 29.9 TTR SNCA GSN CLU

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



Diseases related to Cerebral Amyloid Angiopathy, Cst3-Related

Symptoms & Phenotypes for Cerebral Amyloid Angiopathy, Cst3-Related

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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 APOE APP BACE1 CLU CST3 CST4
2 no effect GR00402-S-2 10.15 APOE APP CLU CST7 CSTB GSN

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.31 APOE APP BACE1 CLU CST3 CSTB
2 homeostasis/metabolism MP:0005376 10.27 APOE APP BACE1 CLU CST3 CSTB
3 normal MP:0002873 10.13 APP BACE1 CST7 LRP1 MAPT PRNP
4 cellular MP:0005384 10.13 APOE APP BACE1 CST3 CSTB GSN
5 no phenotypic analysis MP:0003012 10.11 APOE APP BACE1 CSTB ITM2B MAPT
6 muscle MP:0005369 10.1 APOE APP BACE1 CLU CST3 CSTB
7 cardiovascular system MP:0005385 10 APOE APP CLU CST3 GSN LRP1
8 behavior/neurological MP:0005386 10 APOE APP BACE1 CLU CSTB ITM2B
9 immune system MP:0005387 9.77 APOE APP CLU CSTB GSN LRP1
10 integument MP:0010771 9.4 APOE APP BACE1 GSN LRP1 MAPT

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
Phenol Approved, Experimental 108-95-2 996
2
Acetylsalicylic acid Approved, Vet_approved 50-78-2 2244
3
Clopidogrel Approved 120202-66-6, 113665-84-2 60606
4
Ticagrelor Approved 274693-27-5 9871419
5 Olive
6 Analgesics
7 Antirheumatic Agents
8 Fibrinolytic Agents
9 Neurotransmitter Agents
10 Antipyretics
11 Purinergic P2Y Receptor Antagonists
12 Cyclooxygenase Inhibitors
13 Platelet Aggregation Inhibitors
14 Anti-Inflammatory Agents, Non-Steroidal
15 Analgesics, Non-Narcotic
16 Anti-Inflammatory Agents

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Application of Amyloid PET in Cerebral Amyloid Angiopathy Completed NCT03542656 Phase 3 amyloid PET
2 MRI-visible Enlarged Perivascular Spaces and the Alteration of Lymphatic Drainage System in Cerebral Amyloid Angiopathy Recruiting NCT04604587 Phase 3 1. amyloid PET;2. T807 PET
3 Multimodal Biomarkers for Diagnosis and Prognosis in Cerebral Amyloid Angiopathy Recruiting NCT03969732 Phase 3 1. amyloid PET;2. T807 PET
4 A Phase II Pilot Study of the Safety, Tolerability and Pharmacokinetics of Cerebril™ in Patients With Lobar Hemorrhage Related to Cerebral Amyloid Angiopathy Completed NCT00056238 Phase 2 NC-758 (Anti amyloidotic [Aß] agent)
5 A 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
6 Observational Study on the Prognostic Relevance of Supratentorial Superficial Siderosis in Patients With Suspected Cerebral Amyloid Angiopathy Unknown status NCT01856699
7 A Research of the Methods of Etiological Diagnosis of Cerebral Amyloid Angiopathy Unknown status NCT02361411
8 Extra-virgin Olive Oil Prevents Mild Cognitive Impairment Conversion to Alzheimer's Disease Completed NCT03824197
9 Detailed Clinical and MRI Characteristics in Primary Non-traumatic Convexity Subarachnoid Haemorrhage Elderly Patients. Completed NCT04825808
10 The Silent Cortical Infarcts in the Cerebral Amyloid Angiopathy: Is There a Link With Subarachnoid Hemorrhage? Completed NCT02837354
11 Cerebellar Superficial Siderosis in Cerebral Amyloid Angiopathy on 1.5T T2*-Weighted Imaging Completed NCT05394636
12 The Relationship Between the Static and Dynamic Balance of the Body the Influence of Eyesight and Muscle Tension in the Cervical Spine in Cerebral Amyloid Angiopathy Patients - a Pilot Study Completed NCT05082194
13 SEarchiNg biomarkErs Cerebral Amyloid Angiopathy (SENECA): Italian Network for the Study of CAA Recruiting NCT04204642
14 Safety and Efficacy of Remote Ischemic Conditioning in Patients With Cerebral Amyloid Angiopathy-related Intracerebral Hemorrhage:A Multicenter, Randomized, Controlled Study Recruiting NCT04757597
15 Brain Hemorrhage on 24h-CT and Functional Outcome in Stroke Patients With Cerebral Amyloid Angiopathy Features on Pre-thrombolysis MRI Treated With Intravenous Thrombolysis Recruiting NCT05565144
16 Safety and Efficacy of Remote Ischemic Conditioning in Patients With Cerebral Amyloid Angiopathy: A Prospective, Randomized, Controlled Study Recruiting NCT05207475
17 COrtical Superficial Siderosis and REcurrent Lobar Intracerebral Hemorrhage in Cerebral Amyloid Angiopathy. Recruiting NCT03464344
18 Coach Pilot Study: Assessing Cognitive Function and Related Small Vessel Disease Markers After Intracerebral Hemorrhage; a Pilot Study Recruiting NCT05499169
19 Periventricular White Matter Hyperintensities in Cerebral Amyloid Angiopathy and Hypertensive Arteriopathy Recruiting NCT05486897
20 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
21 A Clinico-radiological Reappraisal of Cerebral Amyloid Angiopathy-related Inflammation in a Series of 28 Patients. Terminated NCT03187886
22 F-18-AV-45 Uptake, Spot Sign Presence and Cerebral Amyloid Angiopathy (CAA) in Primary Intracranial Hemorrhage (ICH) Withdrawn NCT01382849

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

Cochrane evidence based reviews: cerebral amyloid angiopathy, familial

Genetic Tests for Cerebral Amyloid Angiopathy, Cst3-Related

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

# Genetic test Affiliating Genes
1 Cerebral Amyloid Angiopathy 28

Anatomical Context for Cerebral Amyloid Angiopathy, Cst3-Related

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

MalaCards : Brain, Cortex, Spleen, Bone, Smooth Muscle, Bone Marrow, Endothelial
ODiseA: Blood And Bone Marrow, Brain

Publications for Cerebral Amyloid Angiopathy, Cst3-Related

Articles related to Cerebral Amyloid Angiopathy, Cst3-Related:

(show top 50) (show all 3098)
# Title Authors PMID Year
1
Mutation in cystatin C gene causes hereditary brain haemorrhage. 62 57 5
2900981 1988
2
Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment. 62 57
9748011 1998
3
Increased body temperature accelerates aggregation of the Leu-68-->Gln mutant cystatin C, the amyloid-forming protein in hereditary cystatin C amyloid angiopathy. 62 5
8108423 1994
4
Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. 62 57
1352269 1992
5
The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland. 62 57
2689007 1989
6
The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20. 62 5
2567273 1989
7
Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease. 62 57
3475718 1987
8
Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C. 62 57
3495457 1987
9
Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis. 62 57
2436360 1987
10
Cerebral amyloid angiopathy. A critical review. 62 57
3551211 1987
11
Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C). 62 57
3517880 1986
12
Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. 62 57
3707586 1986
13
Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report. 62 57
4056910 1985
14
Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report. 62 57
4056911 1985
15
Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis. 62 57
3982473 1985
16
Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis. 62 57
6390199 1984
17
Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace. 62 57
6886625 1983
18
Fatal massive intracerebral hemorrhage complicating cerebral amyloid angiopathy. 62 57
637762 1978
19
A molecular genetic study of intracerebral hemorrhage. 57
7945009 1994
20
Structure and expression of the human cystatin C gene. 5
2363674 1990
21
Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. 57
3673496 1987
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. 53 62
19725829 2010
26
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 53 62
19911184 2010
27
Transglutaminases and transglutaminase-catalyzed cross-links colocalize with the pathological lesions in Alzheimer's disease brain. 53 62
18673368 2009
28
Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. 53 62
19684239 2009
29
Cerebrospinal fluid amyloid beta(40) is decreased in cerebral amyloid angiopathy. 53 62
19743453 2009
30
SRF and myocardin regulate LRP-mediated amyloid-beta clearance in brain vascular cells. 53 62
19098903 2009
31
[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]. 53 62
18781290 2009
32
Consequence of Abeta immunization on the vasculature of human Alzheimer's disease brain. 53 62
18953056 2008
33
Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease. 53 62
18282158 2008
34
Human apolipoprotein E4 targeted replacement mice show increased prevalence of intracerebral hemorrhage associated with vascular amyloid deposition. 53 62
18755411 2008
35
Amyloid beta peptide-activated signal pathways in human platelets. 53 62
18511035 2008
36
Cerebral amyloid angiopathy and its relationship to Alzheimer's disease. 53 62
18369648 2008
37
Interaction with amyloid beta peptide compromises the lipid binding function of apolipoprotein E. 53 62
18407659 2008
38
Human apolipoprotein E redistributes fibrillar amyloid deposition in Tg-SwDI mice. 53 62
18480287 2008
39
APOE genotype, ethnicity, and the risk of cerebral hemorrhage. 53 62
18256366 2008
40
Molecular conformation and dynamics of the Y145Stop variant of human prion protein in amyloid fibrils. 53 62
18436646 2008
41
Perivascular drainage of amyloid-beta peptides from the brain and its failure in cerebral amyloid angiopathy and Alzheimer's disease. 53 62
18363936 2008
42
Apolipoprotein E, amyloid-beta, and blood-brain barrier permeability in Alzheimer disease. 53 62
18379441 2008
43
The contribution of cerebral vascular semicarbazide-sensitive amine oxidase to cerebral amyloid angiopathy in Alzheimer's disease. 53 62
17971074 2008
44
Expression of amyloid beta peptide in human platelets: pivotal role of the phospholipase Cgamma2-protein kinase C pathway in platelet activation. 53 62
18313326 2008
45
Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease. 53 62
18043715 2008
46
Lipoprotein receptor-related protein-1 mediates amyloid-beta-mediated cell death of cerebrovascular cells. 53 62
18055545 2007
47
Induction of complement proteins in a mouse model for cerebral microvascular A beta deposition. 53 62
17877807 2007
48
Loss of neprilysin function promotes amyloid plaque formation and causes cerebral amyloid angiopathy. 53 62
17591969 2007
49
Topographical distribution of cerebral amyloid angiopathy and its effect on cognitive decline are influenced by Alzheimer disease pathology. 53 62
17306303 2007
50
Heat shock proteins and amateur chaperones in amyloid-Beta accumulation and clearance in Alzheimer's disease. 53 62
17917109 2007

Variations for Cerebral Amyloid Angiopathy, Cst3-Related

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CST3 NM_000099.4(CST3):c.281T>A (p.Leu94Gln) SNV Pathogenic
5634 rs28939068 GRCh37: 20:23615967-23615967
GRCh38: 20:23635330-23635330
2 APP NM_000484.4(APP):c.2125G>A (p.Gly709Ser) SNV Likely Pathogenic
638317 rs201269325 GRCh37: 21:27264120-27264120
GRCh38: 21:25891808-25891808
3 CST3 NM_000099.4(CST3):c.340C>T (p.Gln114Ter) SNV Uncertain Significance
809236 rs1600363764 GRCh37: 20:23615908-23615908
GRCh38: 20:23635271-23635271
4 CST3 NM_000099.4(CST3):c.357+1del DEL Uncertain Significance
1712339 GRCh37: 20:23615890-23615890
GRCh38: 20:23635253-23635253

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

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

Expression for Cerebral Amyloid Angiopathy, Cst3-Related

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

Pathways for Cerebral Amyloid Angiopathy, Cst3-Related

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 19)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.56 APOE APP CLU CST3 CST4 CSTB
2 endoplasmic reticulum GO:0005783 10.47 PSEN2 PSEN1 PRNP CST7 CST3 CLU
3 extracellular space GO:0005615 10.45 TTR SNCA SERPINA3 ITM2B GSN CSTB
4 cell surface GO:0009986 10.36 APP BACE1 CLU MME PRNP PSEN1
5 dendrite GO:0030425 10.3 APOE BACE1 MAPT MME PRNP PSEN1
6 extracellular region GO:0005576 10.27 APOE APP CLU CST3 CST4 CST7
7 axon GO:0030424 10.24 SNCA PSEN1 MME MAPT BACE1 APP
8 blood microparticle GO:0072562 10.18 SERPINA3 GSN CLU APOE
9 neuronal cell body GO:0043025 10.17 APOE BACE1 MAPT MME PSEN1 PSEN2
10 growth cone GO:0030426 10.11 SNCA PSEN2 PSEN1 MAPT APP
11 synaptic vesicle GO:0008021 10.1 APP BACE1 MME PSEN1 PSEN2
12 early endosome GO:0005769 10.07 PSEN2 PSEN1 MME LRP1 BACE1 APP
13 dendritic shaft GO:0043198 10.01 PSEN2 PSEN1 APP
14 ciliary rootlet GO:0035253 9.91 PSEN2 PSEN1 APP
15 gamma-secretase complex GO:0070765 9.88 PSEN2 PSEN1
16 neurofibrillary tangle GO:0097418 9.85 MAPT CLU
17 main axon GO:0044304 9.83 MAPT APP
18 membrane raft GO:0045121 9.8 APP BACE1 MAPT MME PRNP PSEN1
19 Golgi apparatus GO:0005794 9.7 PSEN2 PSEN1 PRNP LRP1 ITM2B HSPB6

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 10.35 APOE APP LRP1 MAPT PSEN1
2 negative regulation of endopeptidase activity GO:0010951 10.23 APP CST3 CSTB PRNP SERPINA3
3 protein processing GO:0016485 10.22 BACE1 PSEN2 PSEN1 MME
4 response to oxidative stress GO:0006979 10.18 PSEN1 PRNP APP APOE
5 synapse organization GO:0050808 10.17 PSEN1 MAPT APP SNCA
6 adult locomotory behavior GO:0008344 10.14 SNCA CSTB APP
7 protein destabilization GO:0031648 10.13 SNCA PRNP GSN
8 membrane protein ectodomain proteolysis GO:0006509 10.1 BACE1 PSEN1 PSEN2
9 negative regulation of amyloid-beta formation GO:1902430 10.09 PRNP CLU APOE
10 negative regulation of proteolysis GO:0045861 10.08 CST3 CST4 CSTB
11 positive regulation of neuron death GO:1901216 10.08 CLU MAPT PRNP SNCA
12 positive regulation of endocytosis GO:0045807 10.07 SNCA LRP1 APOE
13 response to lead ion GO:0010288 10.06 BACE1 APP MAPT
14 cellular response to copper ion GO:0071280 10.06 SNCA PRNP BACE1 APP
15 learning or memory GO:0007611 10.06 APP MAPT MME PRNP PSEN1
16 astrocyte activation GO:0048143 10.03 PSEN1 MAPT APP
17 microglial cell activation GO:0001774 10.03 SNCA MAPT CLU APP
18 supramolecular fiber organization GO:0097435 10.02 SNCA MAPT CST3
19 cellular response to amyloid-beta GO:1904646 10.02 PSEN1 PRNP LRP1 BACE1 APP
20 amyloid precursor protein catabolic process GO:0042987 10.01 BACE1 PSEN1 PSEN2
21 negative regulation of long-term synaptic potentiation GO:1900272 10 APOE APP PRNP
22 neuron projection maintenance GO:1990535 9.99 PSEN1 PRNP APP
23 cellular response to manganese ion GO:0071287 9.97 BACE1 APP
24 Notch receptor processing GO:0007220 9.97 PSEN2 PSEN1
25 positive regulation of amyloid-beta clearance GO:1900223 9.97 LRP1 APOE
26 amyloid-beta formation GO:0034205 9.97 PSEN2 PSEN1 BACE1
27 amyloid-beta clearance by cellular catabolic process GO:0150094 9.96 MME LRP1
28 protein import GO:0017038 9.94 CLU APOE
29 regulation of amyloid-beta clearance GO:1900221 9.93 CLU APOE
30 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.9 PSEN1 APP
31 amyloid-beta metabolic process GO:0050435 9.86 BACE1 MME PSEN1 PSEN2
32 astrocyte activation involved in immune response GO:0002265 9.85 PSEN1 LRP1 APP
33 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.81 PSEN1 APP
34 negative regulation of peptidase activity GO:0010466 9.81 SERPINA3 CSTB CST7 CST4 CST3 APP
35 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.65 PSEN1 APP
36 positive regulation of amyloid fibril formation GO:1905908 9.56 PSEN1 CLU APP APOE
37 amyloid fibril formation GO:1990000 9.36 SNCA MAPT GSN CSTB BACE1 APP

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 9.97 PRNP MAPT HSPB6 CLU
2 endopeptidase activity GO:0004175 9.92 BACE1 MME PSEN1 PSEN2
3 tau protein binding GO:0048156 9.91 SNCA CLU APOE
4 endopeptidase inhibitor activity GO:0004866 9.88 CSTB CST7 CST3
5 lipoprotein particle binding GO:0071813 9.8 MAPT APOE
6 cuprous ion binding GO:1903136 9.78 SNCA PRNP
7 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.76 PSEN2 PSEN1
8 cysteine-type endopeptidase inhibitor activity GO:0004869 9.76 CSTB CST7 CST4 CST3
9 aspartic-type endopeptidase activity GO:0004190 9.65 PSEN2 PSEN1 BACE1
10 peptidase inhibitor activity GO:0030414 9.56 SERPINA3 CSTB CST7 CST4 CST3 APP
11 amyloid-beta binding GO:0001540 9.47 PRNP LRP1 ITM2B CST3 CLU BACE1

Sources for Cerebral Amyloid Angiopathy, Cst3-Related

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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