MCID: PLT015
MIFTS: 34

Platelet Aggregation, Spontaneous

Categories: Blood diseases
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Aliases & Classifications for Platelet Aggregation, Spontaneous

MalaCards integrated aliases for Platelet Aggregation, Spontaneous:

Name: Platelet Aggregation, Spontaneous 57 53 71

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 173400
MedGen 40 C1868263
UMLS 71 C1868263

Summaries for Platelet Aggregation, Spontaneous

MalaCards based summary: Platelet Aggregation, Spontaneous is related to qualitative platelet defect and splenic sequestration. An important gene associated with Platelet Aggregation, Spontaneous is CANT1 (Calcium Activated Nucleotidase 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Diseases of hemostasis. The drugs Abacavir and Acetylsalicylic acid have been mentioned in the context of this disorder. Affiliated tissues include whole blood, endothelial and heart, and related phenotypes are recurrent thrombophlebitis and spontaneous platelet aggregation

More information from OMIM: 173400

Related Diseases for Platelet Aggregation, Spontaneous

Diseases related to Platelet Aggregation, Spontaneous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 qualitative platelet defect 10.2 VWF SELP
2 splenic sequestration 10.2 VWF SELP
3 bleeding disorder, platelet-type, 11 10.2 VWF SELP
4 gray platelet syndrome 10.1 VWF SELP
5 primary thrombocytopenia 10.1 VWF PF4
6 peripheral artery disease 10.1 VWF SELP
7 hemarthrosis 10.0 VWF SERPINC1
8 dic in newborn 10.0 SERPINF2 SERPINC1
9 giant hemangioma 10.0 SERPINF2 SERPINC1
10 livedoid vasculitis 10.0 SERPINF2 SERPINC1
11 retinal vein occlusion 10.0 VWF SERPINC1
12 factor v deficiency 10.0 VWF SERPINC1
13 thrombocytopenic purpura, autoimmune 10.0 SELP PF4
14 cavernous sinus thrombosis 10.0 SERPINC1 PF4
15 factor xii deficiency 10.0 VWF SERPINC1
16 thrombophilia due to activated protein c resistance 10.0 VWF SERPINC1
17 intracranial sinus thrombosis 10.0 SERPINC1 PF4
18 chronic wasting disease 10.0 SOD1 SERPINA3
19 alpha-2-plasmin inhibitor deficiency 10.0 SERPINF2 SERPINC1
20 sagittal sinus thrombosis 10.0 SERPINC1 PF4
21 limb ischemia 10.0 VWF SERPINC1
22 purpura fulminans 10.0 SERPINF2 SERPINC1
23 legg-calve-perthes disease 10.0 SERPINC1 SELP
24 endocardium disease 10.0 VWF SERPINC1
25 vertical talus, congenital 10.0 SERPINC1 PF4
26 factor xi deficiency 10.0 VWF SERPINC1
27 thrombocytopenia due to platelet alloimmunization 10.0 VWF SELP PF4
28 factor viii deficiency 10.0 VWF SERPINC1
29 eisenmenger syndrome 10.0 VWF PLAT
30 glanzmann thrombasthenia 1 10.0 VWF SELP PF4
31 hepatic vascular disease 10.0 VWF SERPINC1
32 retinal artery occlusion 10.0 SERPINC1 SERPINA3
33 heparin cofactor ii deficiency 10.0 SERPINC1 SERPINA3
34 fatal familial insomnia 10.0 SOD1 SERPINA3
35 antithrombin iii deficiency 10.0 SERPINC1 PF4
36 collagen disease 9.9 VWF SERPINA3
37 mild pre-eclampsia 9.9 SOD1 SERPINC1
38 myeloproliferative neoplasm 9.9 VWF SELP PF4
39 myocardial stunning 9.9 SOD1 SERPINC1
40 papilledema 9.9 SERPINC1 SERPINA3
41 carotid artery occlusion 9.9 SELP PLAT
42 occlusion precerebral artery 9.9 SELP PLAT
43 blood protein disease 9.9 VWF SERPINC1
44 vasculitis 9.9 VWF SERPINA3 SELP
45 retinal vascular occlusion 9.9 SERPINC1 SERPINA3
46 severe covid-19 9.9 VWF SERPINA3
47 chronic venous insufficiency 9.9 VWF SERPINC1 SELP
48 intermediate coronary syndrome 9.9 VWF SERPINC1 SELP
49 thrombotic thrombocytopenic purpura 9.9 VWF SERPINC1 SELP
50 uremia 9.9 VWF SOD1 PF4

Graphical network of the top 20 diseases related to Platelet Aggregation, Spontaneous:



Diseases related to Platelet Aggregation, Spontaneous

Symptoms & Phenotypes for Platelet Aggregation, Spontaneous

Human phenotypes related to Platelet Aggregation, Spontaneous:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent thrombophlebitis 30 HP:0004419
2 spontaneous platelet aggregation 30 HP:0030403

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Lab:
spontaneous platelet aggregation

Vascular:
recurrent phlebitis

Clinical features from OMIM®:

173400 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Platelet Aggregation, Spontaneous:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 CANT1 PLAT SELP SERPINC1 SERPINF2 SOD1
2 homeostasis/metabolism MP:0005376 9.61 CANT1 PF4 PLAT SELP SERPINA3 SERPINC1
3 hematopoietic system MP:0005397 9.17 PF4 PLAT SELP SERPINA3 SERPINC1 SOD1

Drugs & Therapeutics for Platelet Aggregation, Spontaneous

Drugs for Platelet Aggregation, Spontaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Abacavir Approved, Investigational 136470-78-5, 188062-50-2 441300
2
Acetylsalicylic acid Approved, Vet_approved 50-78-2 2244
3
Tocopherol Approved, Investigational 1406-66-2
4
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved 59-02-9, 10191-41-0 2116 14985
5
Tenofovir Experimental, Investigational 147127-20-6, 202138-50-9 464205 6398764
6
Tocotrienol Investigational 6829-55-6 9929901
7 Anti-Retroviral Agents
8 Cyclooxygenase Inhibitors
9 Fibrinolytic Agents
10 Antirheumatic Agents
11 Platelet Aggregation Inhibitors
12 Antipyretics
13 Anti-Inflammatory Agents, Non-Steroidal
14 Analgesics, Non-Narcotic
15 Anti-Inflammatory Agents
16 Analgesics
17 Micronutrients
18 Vitamins
19 Protective Agents
20 Trace Elements
21 Tocovid
22 Tocotrienols
23 Tocopherols
24 Antioxidants
25
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Platelet Antisedimentation Rate and Multiplate ex Vivo Examinations in Cerebrovascular Patients Treated With Antiplatelet Therapy and Healthy Controls Unknown status NCT03679858
2 Effects of Fish Oil on Platelet Function and Coagulation Completed NCT03048981 Fish oil
3 Laboratory Implications of Non Obstructive Atherosclerotic Plaques Identified by Multiple Detector Coronary Angiotomography Completed NCT03632785
4 Differences in Platelet Function in Patients on Abacavir Versus Tenofovir Based Antiretroviral Regimens Completed NCT03081572
5 Migraine in Patients Undergoing PFO (Patent Foramen Ovale) Closure: Evaluation of a Platelet-associated Pathophysiologic Linking Mechanism Completed NCT03521193
6 Effects of Tocotrienols Supplementation on Platelet Aggregation in Subjects With Metabolic Syndrome Completed NCT01631838

Search NIH Clinical Center for Platelet Aggregation, Spontaneous

Genetic Tests for Platelet Aggregation, Spontaneous

Anatomical Context for Platelet Aggregation, Spontaneous

Organs/tissues related to Platelet Aggregation, Spontaneous:

MalaCards : Whole Blood, Endothelial, Heart

Publications for Platelet Aggregation, Spontaneous

Articles related to Platelet Aggregation, Spontaneous:

(show all 30)
# Title Authors PMID Year
1
Letter: Familial occurrence of spontaneious platelet aggregation. 57
1113767 1975
2
Platelet activation and alpha granule secretion in type IIB von Willebrand's disease. 53 62
1722992 1991
3
Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome). 62
26829363 2016
4
Platelet abnormalities in chronic thromboembolic pulmonary hypertension. 62
26309645 2015
5
Increased platelet reactivity in patients with late-stage metastatic cancer. 62
24156029 2013
6
[Changes in plasmic and platelet hemostasis in patients with chronic renal failure in hemodialysis]. 62
22645997 2012
7
Combined aspirin and cilostazol treatment is associated with reduced platelet aggregation and prevention of exercise-induced platelet activation. 53
19297212 2009
8
Antiplatelet effect of losartan and telmisartan in patients with ischemic stroke. 53
17845921 2007
9
Multiple electrode aggregometry: a new device to measure platelet aggregation in whole blood. 53
17139373 2006
10
[Indirect comparison of changes of parameters of hemostasis during short-term use of ticlopidine and clopidogrel in patients with non-ST elevation acute coronary syndrome]. 53
16353041 2005
11
Effects of diets containing olive oil, sunflower oil, or rapeseed oil on the hemostatic system. 53
11246548 2001
12
Hemorheological and oxygen free radical associated alterations during and after percutaneous transluminal coronary angioplasty. 53
11345232 2001
13
Platelet spontaneous aggregation in platelet-rich plasma is increased in habitual smokers. 53
10093968 1999
14
[The evaluation of hemostatic disorders in patients with systemic lupus erythematosus]. 62
10399229 1999
15
Effects of the angiotensin-converting enzyme (ACE) inhibitor perindopril on endothelial and platelet functions in essential hypertension. 62
16793747 1998
16
Platelet and blood clotting activation in patients with mitral valve prolapse. 53
8870174 1996
17
Hemostatic abnormalities in inflammatory bowel disease. 53
9163067 1996
18
Effect of erythropoietin therapy and withdrawal on blood coagulation and fibrinolysis in hemodialysis patients. 62
8355460 1993
19
[Physiologic blood coagulation studies in idiopathic arterial thrombosis]. 53
1603102 1992
20
[Effect of naftidrofuryl on viscoelasticity, thrombocyte aggregation and erythrocyte fluidity of blood]. 62
1485477 1992
21
15 parameters of coagulation and fibrinolysis in children with type I diabetes mellitus (onset period). 53
1721940 1991
22
[Hemostatic changes in idiopathic venous thrombosis in childhood and adolescence]. 53
1758145 1991
23
[Comparative study of hemostasis in the aorta and peripheral veins of patients with atherosclerosis of lower limb arteries]. 53
1800227 1991
24
Effects of cefonicid on platelet aggregation. 62
1864223 1991
25
Effect of lovastatin on hemorheology in type II hyperlipoproteinemia. 62
2390136 1990
26
Platelet aggregation and pseudothrombocytopenia induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand's disease patient. 53
2116314 1990
27
Spontaneous platelet aggregation during pregnancy in a patient with von Willebrand disease type IIB can be blocked by monoclonal antibodies to both platelet glycoproteins Ib and IIb/IIIa. 53
2375928 1990
28
Intraoperative management of patients with heparin-induced thrombocytopenia. 53
1692679 1990
29
Factors influencing platelet aggregation in whole blood. 62
3728385 1986
30
Heparin versus low molecular weight heparin K 2165 in chronic hemodialysis patients: a randomized cross-over study. 62
2943643 1986

Variations for Platelet Aggregation, Spontaneous

Expression for Platelet Aggregation, Spontaneous

Search GEO for disease gene expression data for Platelet Aggregation, Spontaneous.

Pathways for Platelet Aggregation, Spontaneous

GO Terms for Platelet Aggregation, Spontaneous

Cellular components related to Platelet Aggregation, Spontaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.17 VWF SOD1 SERPINF2 SERPINC1 SERPINA3 PLAT
2 extracellular region GO:0005576 10.16 CANT1 PF4 PLAT SERPINA3 SERPINC1 SERPINF2
3 extracellular space GO:0005615 10.06 PF4 PLAT SELP SERPINA3 SERPINC1 SERPINF2
4 blood microparticle GO:0072562 9.85 SERPINF2 SERPINC1 SERPINA3
5 platelet alpha granule lumen GO:0031093 9.56 VWF SERPINF2 SERPINA3 PF4
6 collagen-containing extracellular matrix GO:0062023 9.36 VWF SERPINF2 SERPINC1 SERPINA3 PLAT PF4

Biological processes related to Platelet Aggregation, Spontaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of endopeptidase activity GO:0010951 9.85 SERPINF2 SERPINC1 SERPINA3
2 blood coagulation GO:0007596 9.63 VWF SERPINC1 PLAT
3 fibrinolysis GO:0042730 9.62 SERPINF2 PLAT
4 hemostasis GO:0007599 9.58 VWF SERPINC1
5 negative regulation of fibrinolysis GO:0051918 9.56 SERPINF2 PLAT
6 negative regulation of plasminogen activation GO:0010757 9.26 SERPINF2 PLAT
7 negative regulation of peptidase activity GO:0010466 8.8 SERPINF2 SERPINC1 SERPINA3

Molecular functions related to Platelet Aggregation, Spontaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.73 SERPINC1 SELP PF4
2 protease binding GO:0002020 9.63 VWF SERPINF2 SERPINC1
3 serine-type endopeptidase inhibitor activity GO:0004867 9.43 SERPINF2 SERPINC1 SERPINA3
4 peptidase inhibitor activity GO:0030414 8.8 SERPINF2 SERPINC1 SERPINA3

Sources for Platelet Aggregation, Spontaneous

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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