MCID: PRT114
MIFTS: 16

Prothrombin Thrombophilia

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Prothrombin Thrombophilia

MalaCards integrated aliases for Prothrombin Thrombophilia:

Name: Prothrombin Thrombophilia 50 25
Hyperprothrombinemia 50 25 69
Prothrombin G20210a Thrombophilia 50 25
Prothrombin 20210g>a Thrombophilia 50
Prothrombin-Related Thrombophilia 50
Factor Ii-Related Thrombophilia 50

Classifications:



Summaries for Prothrombin Thrombophilia

NIH Rare Diseases : 50 prothrombin thrombophilia is a genetic disorder of blood clotting. individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. those with prothrombin thrombophilia are at somewhat higher than average risk for a type of clot that typically occurs in the deep veins of the legs (deep venous thrombosis). there is additionally an increased risk of developing a clot that  lodges in the lungs (pulmonary embolism); however, most people with prothrombin thrombophilia never develop abnormal blood clots. this condition is caused by a particular mutation (written g20210a or 20210g>a) in the f2 gene. people can inherit one or two copies of the gene mutation from their parents. the treatment for this condition is dependent on whether a blood clot has occurred and if there are additional risk factors. in individuals with a history of one or more blood clots, blood thinning medications may be used. last updated: 5/22/2017

MalaCards based summary : Prothrombin Thrombophilia, also known as hyperprothrombinemia, is related to prothrombin-related thrombophilia. The drugs Thrombin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and liver.

Genetics Home Reference : 25 Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occurs in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism, which is a clot that travels through the bloodstream and lodges in the lungs. Most people with prothrombin thrombophilia never develop abnormal blood clots, however.

Related Diseases for Prothrombin Thrombophilia

Diseases related to Prothrombin Thrombophilia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 prothrombin-related thrombophilia 11.2

Symptoms & Phenotypes for Prothrombin Thrombophilia

Drugs & Therapeutics for Prothrombin Thrombophilia

Drugs for Prothrombin Thrombophilia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 74)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved Phase 4,Phase 2,Early Phase 1
2
Dalteparin Approved Phase 4 9005-49-6
3
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
4 Anticoagulants Phase 4,Phase 2,Early Phase 1
5 Fibrinolytic Agents Phase 4
6 calcium heparin Phase 4
7 Heparin, Low-Molecular-Weight Phase 4
8
Warfarin Approved Phase 2 81-81-2 6691 54678486
9
Menadione Approved, Nutraceutical Phase 2 58-27-5 4055
10
Phytonadione Approved, Nutraceutical Phase 2 84-80-0 4812 5284607
11 Antithrombin III Phase 2,Early Phase 1
12 Antithrombins Phase 2,Early Phase 1
13 Coagulants Phase 2
14 Hemostatics Phase 2
15 HIV Protease Inhibitors Phase 2,Early Phase 1
16
protease inhibitors Phase 2,Early Phase 1
17 Serine Proteinase Inhibitors Phase 2,Early Phase 1
18 Vitamins Phase 2
19 serine Nutraceutical Phase 2,Early Phase 1
20 Menaquinone Nutraceutical Phase 2
21 naphthoquinone Nutraceutical Phase 2
22 Vitamin K Nutraceutical Phase 2
23 Edoxaban Approved 480449-70-5
24
Hydroxyurea Approved 127-07-1 3657
25
Magnesium Sulfate Approved, Vet_approved 7487-88-9 24083
26 Nadroparin Approved 9041-08-1
27
Estradiol Approved, Investigational, Vet_approved 50-28-2 5757
28
Protein C Approved
29
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
30
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
31 Factor Xa Inhibitors
32 Anesthetics
33 Factor VIII
34 Bone Density Conservation Agents
35 Micronutrients
36 Trace Elements
37 Ergocalciferols
38 Antibodies
39 Antibodies, Antiphospholipid
40 Immunoglobulins
41 Liver Extracts
42 Cystatins
43 Epoetin alfa 113427-24-0
44 Fibrin fragment D
45 Hepcidins
46 Angiogenesis Inducing Agents
47 Analgesics
48 Anti-Arrhythmia Agents
49 Anticonvulsants
50 calcium channel blockers

Interventional clinical trials:

(show all 45)

id Name Status NCT ID Phase Drugs
1 Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer Completed NCT01741506 Phase 4 Dalteparin (Fragmin®)
2 Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes Mellitus Completed NCT01865474 Phase 4 DLBS1033;placebo tablet of DLBS1033
3 LMWH to Prevent Preeclampsia and Fetal Growth Restriction Terminated NCT00260520 Phase 4 Dalteparin
4 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
5 Anti-thrombin III (ATIII) vs Placebo in Children (<7mo) Undergoing Open Congenital Cardiac Surgery Completed NCT02103114 Phase 2 Anti-thrombin III
6 Reinitiation of Anticoagulation After Temporary Withdrawal of Vitamin K Antagonist Completed NCT01348074 Phase 2 Double dose
7 Anticoagulation For Pulmonary Hypertension in Sickle Cell Disease Terminated NCT01036802 Phase 2 Warfarin;Placebo
8 Influence of Edoxaban on Coagulability and Thrombin Generation: An in Vitro Study Focusing on Thrombelastography Unknown status NCT02448901 Edoxaban
9 Thromboelastography in in Patients With Sepsis Unknown status NCT00994877
10 Evaluation of the LMWH Thromboprophylaxis in Pregnancy Unknown status NCT01394107
11 Ex Vivo Laboratory Assays Application for Therapy Tailoring in Patients With Severe Bleeding Disorders Unknown status NCT02324517
12 Does Vitamin D Deficiency Associated With Hypercoagulability & Increased Thrombin Generation? Completed NCT01799655
13 Determination of Performance Characteristics of the MassPLEX Factor II/V Leiden Test Completed NCT01835483
14 Does Deficiency in Vitamin D Induced Hypercoagulation or Thrombin Generation Completed NCT01761669 Vitamin D
15 Hypercoagulable Phenotype by Thrombinography (in Presence of C Protein Dynamic Inhibitory System) Completed NCT02892565
16 Hypercoagulability After Breast Cancer Surgery Completed NCT00210197
17 Can Thrombin Generation Measurement Predict the Risk of Venous Thromboembolism in Acute Ill Patients Completed NCT01744431
18 Detecting Abnormal Blood Clotting in Patients With Metastatic Cancer Undergoing Surgery Completed NCT00096590
19 Vascular Cell Activation, Cell-Derived Microparticles and In Vitro Fertilisation, and In Vitro Fertilisation Completed NCT03051230
20 Evaluation of the Hemostatic Potential in Sickle Cell Disease Patients Completed NCT02565082
21 Coagulation Changes in Trauma Patients Completed NCT00795743
22 The Change of Coagulation Markers in Children With β-thalassemia Disease After Stem Cell Transplantation Completed NCT00789516
23 To Compare TEG and Conventional Tests in CKD Patients Completed NCT03275077
24 Long Term Effects of Erythrocyte Lysis Completed NCT00842621
25 Extra Corporeal Membrane Oxygenation in the Acute Respiratory Distress Syndrome: Utility of a Biomarker to Assess the Membrane Efficiency in Improving Oxygenation Completed NCT02879344
26 Study of Abnormal Blood Clotting in Children With Stroke Completed NCT00001927
27 Prediction of the Risk of Placental Vascular Pathology and Venous Thromboembolic Disease Completed NCT00695942
28 Magnesium and Rotational Thromboelastometry (ROTEM) in Colorectal Cancer Surgery Completed NCT01938300 Magnesium Sulfate;Normal saline
29 Thrombophilic Risk Factors in Pediatric Patients Diagnosed at the Ha'Emek Medical Center Completed NCT00736008
30 Effect of Magnesium Sulphate on Coagulation Completed NCT01032213 Magnesium Sulfate;normal saline
31 Thrombin Generation and Gestational Outcome Recruiting NCT02139670
32 Study on Antithrombotic Prevention in Thrombophilia and Pregnancy Loss Recruiting NCT02385461 Low Molecular Weight Heparins (LMWHs)
33 Substudy - Evaluation of Patients With Iliac Vein Thrombosis Recruiting NCT03148548
34 Thrombophilic Risk Factors in Preterm and Infants Treated at Ha'Emek Medical Center Between the Years 1990 to 2010 Recruiting NCT01443273
35 Treatment of Polycythaemia Vera and Essential Thrombocythaemia: Influence on the Clot Structure Recruiting NCT02912884 No cytoreductive vs cytoreductive drugs
36 The Proteins of the Contact Activation System Recruiting NCT02785718
37 Anticoagulation for Advanced Cirrhotic Patients After TIPS Recruiting NCT03005444 Low molecular weight Heparin
38 Ovarian Hyperstimulation Syndrome in Patients Triggered by GnRH Agonist for Excessive Follicular Response Recruiting NCT02701452
39 Risk Factors of Venous Thromboembolism in Women During Hormonal Exposure Active, not recruiting NCT03206372
40 Acute Phase Reactions and Thrombophilia in Pediatric Patients With Migraine Enrolling by invitation NCT01905748
41 Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients With Haemophilia A and B Not yet recruiting NCT03287999
42 Characterization of Hemostatic Disordres in Septic Shock: Searching for Biological Markers Not yet recruiting NCT02692053
43 Noninvasive Measurement of Blood Coagulation Not yet recruiting NCT03217799
44 Response of Continuous Recombinant Antithrombin Infusion in Postcardiotomy ECMO Patients Not yet recruiting NCT03090893 Early Phase 1 ATryn continuous infusion
45 Comparative Prevalence of Psychiatric Manifestations in Purely Obstetrical Antiphospholipid Syndrome Terminated NCT01649479

Search NIH Clinical Center for Prothrombin Thrombophilia

Genetic Tests for Prothrombin Thrombophilia

Anatomical Context for Prothrombin Thrombophilia

MalaCards organs/tissues related to Prothrombin Thrombophilia:

39
Lung, Testes, Liver, Bone

Publications for Prothrombin Thrombophilia

Variations for Prothrombin Thrombophilia

Expression for Prothrombin Thrombophilia

Search GEO for disease gene expression data for Prothrombin Thrombophilia.

Pathways for Prothrombin Thrombophilia

GO Terms for Prothrombin Thrombophilia

Sources for Prothrombin Thrombophilia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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