MCID: PLT015
MIFTS: 34

Platelet Aggregation, Spontaneous

Categories: Blood diseases

Aliases & Classifications for Platelet Aggregation, Spontaneous

MalaCards integrated aliases for Platelet Aggregation, Spontaneous:

Name: Platelet Aggregation, Spontaneous 57 29 54 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
platelet aggregation, spontaneous:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 173400
MedGen 41 C1868263
SNOMED-CT via HPO 68 263681008
UMLS 70 C1868263

Summaries for Platelet Aggregation, Spontaneous

MalaCards based summary : Platelet Aggregation, Spontaneous is related to qualitative platelet defect and purpura. 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 Selenium Micronutrient Network. The drugs Aspirin and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, whole blood and endothelial, 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 113)
# Related Disease Score Top Affiliating Genes
1 qualitative platelet defect 10.2 VWF PF4
2 purpura 10.1 VWF SERPINC1
3 thrombocytopenia due to platelet alloimmunization 10.1 SELP PF4
4 giant hemangioma 10.1 SERPINF2 SERPINC1
5 dic in newborn 10.1 SERPINF2 SERPINC1
6 livedoid vasculitis 10.0 SERPINF2 SERPINC1
7 heparin-induced thrombocytopenia 10.0 SERPINC1 PF4
8 alpha-2-plasmin inhibitor deficiency 10.0 SERPINF2 SERPINC1
9 factor xii deficiency 10.0 VWF SERPINC1
10 retinal vascular occlusion 10.0 SERPINC1 SELP
11 thrombophilia due to activated protein c resistance 10.0 VWF SERPINC1
12 chronic wasting disease 10.0 SOD1 SERPINA3
13 leech infestation 10.0 SERPINC1 PF4
14 carotid stenosis 10.0 VWF SELP
15 legg-calve-perthes disease 10.0 SERPINC1 SELP
16 purpura fulminans 10.0 SERPINF2 SERPINC1
17 hepatic vascular disease 10.0 VWF SERPINC1
18 collagen disease 10.0 VWF SERPINA3
19 nonbacterial thrombotic endocarditis 10.0 SERPINC1 PF4
20 gray platelet syndrome 10.0 VWF SELP PF4
21 eisenmenger syndrome 10.0 VWF PLAT
22 splenic infarction 10.0 SERPINC1 SERPINA3
23 sickle cell disease 10.0 VWF SELP PF4
24 factor xi deficiency 10.0 VWF SERPINC1
25 antithrombin iii deficiency 10.0 SERPINC1 PF4
26 heparin cofactor ii deficiency 10.0 SERPINC1 SERPINA3
27 vascular cancer 10.0 VWF SERPINA3
28 papilledema 10.0 SERPINC1 SERPINA3
29 polycythemia vera 9.9 VWF SELP PF4
30 blood protein disease 9.9 VWF SERPINC1
31 plasminogen activator inhibitor-1 deficiency 9.9 SERPINF2 PLAT
32 myocardial stunning 9.9 SOD1 SERPINC1
33 social phobia 9.9 SOD1 SERPINA3
34 occlusion precerebral artery 9.9 SELP PLAT
35 plasminogen deficiency, type i 9.9 SERPINF2 PLAT
36 vasculitis 9.9 VWF SERPINA3 SELP
37 glanzmann thrombasthenia 1 9.9 VWF PF4
38 factor viii deficiency 9.9 VWF SERPINC1
39 placental insufficiency 9.9 VWF SERPINC1 SELP
40 factor xiii deficiency 9.9 VWF SERPINF2 SERPINC1
41 chronic venous insufficiency 9.9 SELP PLAT
42 hemophilia b 9.9 VWF SERPINC1 PF4
43 fibrinolytic defect 9.8 SERPINC1 PLAT
44 cold urticaria 9.8 SERPINF2 SERPINC1 PF4
45 autoimmune disease of cardiovascular system 9.8 VWF SERPINC1 SERPINA3
46 anterior cerebral artery infarction 9.8 SERPINC1 PLAT
47 argentine hemorrhagic fever 9.8 SERPINC1 PLAT
48 central retinal artery occlusion 9.8 SERPINC1 PLAT
49 coronary restenosis 9.8 SERPINC1 PLAT
50 venous insufficiency 9.8 VWF SELP PLAT

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:

31
# Description HPO Frequency HPO Source Accession
1 recurrent thrombophlebitis 31 HP:0004419
2 spontaneous platelet aggregation 31 HP:0030403

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Lab:
spontaneous platelet aggregation

Vascular:
recurrent phlebitis

Clinical features from OMIM®:

173400 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Platelet Aggregation, Spontaneous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 PF4 PLAT SELP SERPINA3 SERPINC1 SERPINF2
2 nervous system MP:0003631 9.17 CANT1 PLAT SELP SERPINC1 SERPINF2 SOD1

Drugs & Therapeutics for Platelet Aggregation, Spontaneous

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved 50-78-2 2244
2 Antirheumatic Agents
3 Fibrinolytic Agents
4 Anti-Inflammatory Agents
5 Anti-Inflammatory Agents, Non-Steroidal
6 Analgesics
7 Cyclooxygenase Inhibitors
8 Platelet Aggregation Inhibitors
9 Antipyretics
10 Analgesics, Non-Narcotic
11
Serotonin Investigational, Nutraceutical 50-67-9 5202

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Migraine Characteristics in Patients Undergoing PFO (Patent Foramen Ovale) Closure: Evaluation of a Specific Risk Profile Unknown status NCT03521193
2 Effects of Fish Oil on Platelet Function and Coagulation Completed NCT03048981 Fish oil

Search NIH Clinical Center for Platelet Aggregation, Spontaneous

Genetic Tests for Platelet Aggregation, Spontaneous

Genetic tests related to Platelet Aggregation, Spontaneous:

# Genetic test Affiliating Genes
1 Platelet Aggregation, Spontaneous 29

Anatomical Context for Platelet Aggregation, Spontaneous

MalaCards organs/tissues related to Platelet Aggregation, Spontaneous:

40
Heart, Whole Blood, Endothelial

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. 61 54
1722992 1991
3
Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome). 61
26829363 2016
4
Platelet abnormalities in chronic thromboembolic pulmonary hypertension. 61
26309645 2015
5
Increased platelet reactivity in patients with late-stage metastatic cancer. 61
24156029 2013
6
[Changes in plasmic and platelet hemostasis in patients with chronic renal failure in hemodialysis]. 61
22645997 2012
7
Combined aspirin and cilostazol treatment is associated with reduced platelet aggregation and prevention of exercise-induced platelet activation. 54
19297212 2009
8
Antiplatelet effect of losartan and telmisartan in patients with ischemic stroke. 54
17845921 2007
9
Multiple electrode aggregometry: a new device to measure platelet aggregation in whole blood. 54
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]. 54
16353041 2005
11
Effects of diets containing olive oil, sunflower oil, or rapeseed oil on the hemostatic system. 54
11246548 2001
12
Hemorheological and oxygen free radical associated alterations during and after percutaneous transluminal coronary angioplasty. 54
11345232 2001
13
Platelet spontaneous aggregation in platelet-rich plasma is increased in habitual smokers. 54
10093968 1999
14
[The evaluation of hemostatic disorders in patients with systemic lupus erythematosus]. 61
10399229 1999
15
Effects of the angiotensin-converting enzyme (ACE) inhibitor perindopril on endothelial and platelet functions in essential hypertension. 61
16793747 1998
16
Platelet and blood clotting activation in patients with mitral valve prolapse. 54
8870174 1996
17
Hemostatic abnormalities in inflammatory bowel disease. 54
9163067 1996
18
Effect of erythropoietin therapy and withdrawal on blood coagulation and fibrinolysis in hemodialysis patients. 61
8355460 1993
19
[Physiologic blood coagulation studies in idiopathic arterial thrombosis]. 54
1603102 1992
20
[Effect of naftidrofuryl on viscoelasticity, thrombocyte aggregation and erythrocyte fluidity of blood]. 61
1485477 1992
21
[Hemostatic changes in idiopathic venous thrombosis in childhood and adolescence]. 54
1758145 1991
22
[Comparative study of hemostasis in the aorta and peripheral veins of patients with atherosclerosis of lower limb arteries]. 54
1800227 1991
23
15 parameters of coagulation and fibrinolysis in children with type I diabetes mellitus (onset period). 54
1721940 1991
24
Effects of cefonicid on platelet aggregation. 61
1864223 1991
25
Effect of lovastatin on hemorheology in type II hyperlipoproteinemia. 61
2390136 1990
26
Platelet aggregation and pseudothrombocytopenia induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in type IIB von Willebrand's disease patient. 54
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. 54
2375928 1990
28
Intraoperative management of patients with heparin-induced thrombocytopenia. 54
1692679 1990
29
Factors influencing platelet aggregation in whole blood. 61
3728385 1986
30
Heparin versus low molecular weight heparin K 2165 in chronic hemodialysis patients: a randomized cross-over study. 61
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 9.87 VWF SOD1 SERPINF2 SERPINC1 SERPINA3 PLAT
2 extracellular region GO:0005576 9.86 VWF SOD1 SERPINF2 SERPINC1 SERPINA3 PLAT
3 extracellular space GO:0005615 9.76 VWF SOD1 SERPINF2 SERPINC1 SERPINA3 SELP
4 blood microparticle GO:0072562 9.54 SERPINF2 SERPINC1 SERPINA3
5 platelet alpha granule lumen GO:0031093 9.26 VWF SERPINF2 SERPINA3 PF4
6 collagen-containing extracellular matrix GO:0062023 9.1 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 blood coagulation GO:0007596 9.5 VWF SERPINC1 PLAT
2 hemostasis GO:0007599 9.4 VWF SERPINC1
3 acute-phase response GO:0006953 9.37 SERPINF2 SERPINA3
4 negative regulation of endopeptidase activity GO:0010951 9.33 SERPINF2 SERPINC1 SERPINA3
5 fibrinolysis GO:0042730 9.26 SERPINF2 PLAT
6 negative regulation of peptidase activity GO:0010466 9.13 SERPINF2 SERPINC1 SERPINA3
7 platelet degranulation GO:0002576 9.1 VWF SOD1 SERPINF2 SERPINA3 SELP PF4

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 9.43 SERPINC1 SELP PF4
2 peptidase inhibitor activity GO:0030414 9.33 SERPINF2 SERPINC1 SERPINA3
3 protease binding GO:0002020 9.13 VWF SERPINF2 SERPINC1
4 serine-type endopeptidase inhibitor activity GO:0004867 8.8 SERPINF2 SERPINC1 SERPINA3

Sources for Platelet Aggregation, Spontaneous

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
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