MCID: PRT045
MIFTS: 31

Prothrombin-Related Thrombophilia

Categories: Blood diseases, Cardiovascular diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Prothrombin-Related Thrombophilia

MalaCards integrated aliases for Prothrombin-Related Thrombophilia:

Name: Prothrombin-Related Thrombophilia 24 52
Prothrombin G20210a Thrombophilia 24 52 25
Prothrombin Thrombophilia 24 52 25
Hyperprothrombinemia 52 25 71
Prothrombin 20210g>a Thrombophilia 24 52
Factor Ii-Related Thrombophilia 24 52
F2-Related Thrombophilia 24 52
Thrombophilia Due to Factor 2 Defect 52

Classifications:



External Ids:

UMLS 71 C1867596

Summaries for Prothrombin-Related Thrombophilia

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. Some research suggests that prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies.

MalaCards based summary : Prothrombin-Related Thrombophilia, also known as prothrombin g20210a thrombophilia, is related to thrombophilia due to activated protein c resistance and placental abruption. An important gene associated with Prothrombin-Related Thrombophilia is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Folate Metabolism and Formation of Fibrin Clot (Clotting Cascade). The drugs Thrombin and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include lung, placenta and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

NIH Rare Diseases : 52 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.

GeneReviews: NBK1148

Related Diseases for Prothrombin-Related Thrombophilia

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

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 30.2 MTHFR F2
2 placental abruption 30.0 MTHFR F2
3 thrombosis 29.6 MTHFR F2 F13A1
4 thrombophilia 28.6 MTHFR HABP2 F2 F13A1
5 thrombophilia due to thrombin defect 28.6 MTHFR HABP2 F2 F13A1
6 portal hypertension 10.2
7 hepatitis 10.2
8 liver cirrhosis 10.2
9 pre-eclampsia 10.1
10 spinal cord infarction 10.0 MTHFR F2
11 sudden sensorineural hearing loss 10.0 MTHFR F2
12 lateral sinus thrombosis 10.0 MTHFR F2
13 lemierre's syndrome 10.0 MTHFR F2
14 arteritic anterior ischemic optic neuropathy 10.0 MTHFR F2
15 marantic endocarditis 10.0 MTHFR F2
16 livedoid vasculitis 10.0 MTHFR F2
17 cryptogenic cirrhosis 10.0 MTHFR F2
18 intracranial sinus thrombosis 10.0 MTHFR F2
19 cerebral sinovenous thrombosis 10.0 MTHFR F2
20 branch retinal artery occlusion 10.0 MTHFR F2
21 retinal artery occlusion 10.0 MTHFR F2
22 mastoiditis 10.0 MTHFR F2
23 thrombasthenia 10.0 MTHFR F2
24 intracranial thrombosis 10.0 MTHFR F2
25 porencephaly 10.0 MTHFR F2
26 dysfibrinogenemia, congenital 10.0 F2 F13A1
27 buerger disease 10.0 MTHFR F2
28 factor xiii deficiency 10.0 F2 F13A1
29 antithrombin iii deficiency 10.0 MTHFR F2
30 thrombophlebitis 10.0 MTHFR F2
31 retinal vascular occlusion 9.9 MTHFR F2
32 gastroschisis 9.9 MTHFR F2
33 central retinal vein occlusion 9.9 MTHFR F2
34 retinal vein occlusion 9.9 MTHFR F2
35 inherited blood coagulation disease 9.9 MTHFR F2
36 blood coagulation disease 9.9 MTHFR F2
37 pulmonary artery disease 9.9 MTHFR F2
38 protein s deficiency 9.9 MTHFR F2
39 chronic venous insufficiency 9.9 MTHFR F2
40 venous insufficiency 9.9 MTHFR F2
41 portal vein thrombosis 9.9 MTHFR F2
42 blood protein disease 9.9 MTHFR F2
43 protein c deficiency 9.9 MTHFR F2
44 nephrosclerosis 9.9 MTHFR F2
45 intracranial hypertension 9.9 MTHFR F2
46 vein disease 9.9 MTHFR F2
47 nonarteritic anterior ischemic optic neuropathy 9.9 MTHFR F2
48 moyamoya disease 1 9.9 MTHFR F2
49 budd-chiari syndrome 9.9 MTHFR F2
50 amino acid metabolic disorder 9.9 MTHFR F2

Graphical network of the top 20 diseases related to Prothrombin-Related Thrombophilia:



Diseases related to Prothrombin-Related Thrombophilia

Symptoms & Phenotypes for Prothrombin-Related Thrombophilia

GenomeRNAi Phenotypes related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.4 HABP2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.4 MTHFR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.4 MTHFR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.4 HABP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.4 MTHFR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.4 HABP2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.4 MTHFR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.4 HABP2 MTHFR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.4 MTHFR
10 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.4 MTHFR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.4 MTHFR

Drugs & Therapeutics for Prothrombin-Related Thrombophilia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational
2 Hemostatics
3 Coagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Prothrombin Gene and Methylenetetrahydrofolate Reductase(MTHFR) Gene Polymorphisms as Risk Factors for Recurrent Miscarriage Not yet recruiting NCT03209063

Search NIH Clinical Center for Prothrombin-Related Thrombophilia

Genetic Tests for Prothrombin-Related Thrombophilia

Anatomical Context for Prothrombin-Related Thrombophilia

MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

40
Lung, Placenta, Testes, Liver, Heart, Breast, Spinal Cord

Publications for Prothrombin-Related Thrombophilia

Articles related to Prothrombin-Related Thrombophilia:

(show top 50) (show all 272)
# Title Authors PMID Year
1
Antepartum dalteparin versus no antepartum dalteparin for the prevention of pregnancy complications in pregnant women with thrombophilia (TIPPS): a multinational open-label randomised trial. 24
25066248 2014
2
Comparative incidence of pregnancy outcomes in treated obstetric antiphospholipid syndrome: the NOH-APS observational study. 24
24200687 2014
3
Advantages and limitations of the new anticoagulants. 24
24112453 2014
4
Cerebral venous thrombosis and thrombophilia: a systematic review and meta-analysis. 24
24129682 2013
5
Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives. A review of the Guidelines from Scientific Societies and Working Groups. 24
23846575 2013
6
ACOG Practice Bulletin No. 138: Inherited thrombophilias in pregnancy. 24
23963422 2013
7
The methylenetetrahydrofolate reductase polymorphism (MTHFR c.677C>T) and elevated plasma homocysteine levels in a U.S. pediatric population with incident thromboembolism. 24
23866722 2013
8
Thrombosis in women: what are the knowledge gaps in 2013? 24
23809122 2013
9
ACOG committee opinion no. 556: Postmenopausal estrogen therapy: route of administration and risk of venous thromboembolism. 24
23635705 2013
10
Use of medications to reduce risk for primary breast cancer: a systematic review for the U.S. Preventive Services Task Force. 24
23588749 2013
11
NICE guideline: management of venous thromboembolic diseases and role of thrombophilia testing. 24
23234857 2013
12
The ASH Choosing Wisely®campaign: five hematologic tests and treatments to question. 24
24319155 2013
13
The risk of venous thrombosis in women over 50 years old using oral contraception or postmenopausal hormone therapy. 24
23136837 2013
14
International clinical practice guidelines for the treatment and prophylaxis of venous thromboembolism in patients with cancer. 24
23217107 2013
15
Thrombophilia testing for prevention of recurrent venous thromboembolism. 24
23235639 2012
16
Guidelines on the investigation and management of venous thrombosis at unusual sites. 24
22881455 2012
17
Long-term outcomes of patients with cerebral vein thrombosis: a multicenter study. 24
22578023 2012
18
Elevated factor VIII levels and risk of venous thrombosis. 24
22530883 2012
19
Thrombosis from a prothrombin mutation conveying antithrombin resistance. 24
22716977 2012
20
Heparin in pregnant women with previous placenta-mediated pregnancy complications: a prospective, randomized, multicenter, controlled clinical trial. 24
22289887 2012
21
Low-molecular-weight heparin added to aspirin in the prevention of recurrent early-onset pre-eclampsia in women with inheritable thrombophilia: the FRUIT-RCT. 24
22118560 2012
22
Addition of enoxaparin to aspirin for the secondary prevention of placental vascular complications in women with severe pre-eclampsia. The pilot randomised controlled NOH-PE trial. 24
21946915 2011
23
Progestogens and venous thromboembolism among postmenopausal women using hormone therapy. 24
22024394 2011
24
Thrombophilia in childhood: to test or not to test. 24
22187402 2011
25
Pediatric venous and arterial noncerebral thromboembolism in Denmark: a nationwide population-based study. 24
21596390 2011
26
In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband. 24
21833444 2011
27
Does the route of administration for estrogen hormone therapy impact the risk of venous thromboembolism? Estradiol transdermal system versus oral estrogen-only hormone therapy. 24
21775912 2011
28
Prothrombotic gene polymorphisms: possible contributors to hepatic artery thrombosis after orthotopic liver transplantation. 24
21836539 2011
29
Thrombotic risk during oral contraceptive use and pregnancy in women with factor V Leiden or prothrombin mutation: a rational approach to contraception. 24
21659542 2011
30
Guideline on the investigation, management and prevention of venous thrombosis in children. 24
21595646 2011
31
Factor XIII and venous thromboembolism. 24
21455864 2011
32
Thromboprophylaxis for recurrent miscarriage in women with or without thrombophilia. HABENOX: a randomised multicentre trial. 24
21103659 2011
33
Factor V Leiden thrombophilia. 24
21116184 2011
34
Recommendations from the EGAPP Working Group: routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members. 24
21150787 2011
35
Genetics of venous thrombosis: insights from a new genome wide association study. 24
21980494 2011
36
Risk assessment for recurrent venous thrombosis. 24
21131039 2010
37
Risk of venous thrombosis in pregnancy among carriers of the factor V Leiden and the prothrombin gene G20210A polymorphisms. 24
20735725 2010
38
Venous thrombosis risk associated with plasma hypofibrinolysis is explained by elevated plasma levels of TAFI and PAI-1. 24
20385790 2010
39
The association of factor V leiden and prothrombin gene mutation and placenta-mediated pregnancy complications: a systematic review and meta-analysis of prospective cohort studies. 24
20563311 2010
40
Hormone replacement therapy and the risk of venous thromboembolism: a population-based study. 24
20230416 2010
41
Extended case-control study results on thromboembolic outcomes among transdermal contraceptive users. 24
20399947 2010
42
SPIN (Scottish Pregnancy Intervention) study: a multicenter, randomized controlled trial of low-molecular-weight heparin and low-dose aspirin in women with recurrent miscarriage. 24
20237316 2010
43
Prothrombin G20210A carriers the genetic mutation and a history of venous thrombosis contributes to thrombin generation independently of factor II plasma levels. 24
20096005 2010
44
Aspirin plus heparin or aspirin alone in women with recurrent miscarriage. 24
20335572 2010
45
Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies. 24
20385928 2010
46
Clinical guidelines for testing for heritable thrombophilia. 24
20128794 2010
47
Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. 24
20368522 2010
48
Postmenopausal hormone therapy and risk of idiopathic venous thromboembolism: results from the E3N cohort study. 24
19834106 2010
49
A prospective case-control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss. 24
19906129 2010
50
Clinical course of high-risk patients diagnosed with antiphospholipid syndrome. 24
19874470 2010

Variations for Prothrombin-Related Thrombophilia

Expression for Prothrombin-Related Thrombophilia

Search GEO for disease gene expression data for Prothrombin-Related Thrombophilia.

Pathways for Prothrombin-Related Thrombophilia

Pathways related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 MTHFR F2
2
Show member pathways
11.16 F2 F13A1
3 10.78 F2 F13A1

GO Terms for Prothrombin-Related Thrombophilia

Cellular components related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 F2 F13A1

Biological processes related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hemostasis GO:0007599 8.96 F2 F13A1
2 blood coagulation GO:0007596 8.8 HABP2 F2 F13A1

Molecular functions related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.96 HABP2 F2
2 serine-type peptidase activity GO:0008236 8.62 HABP2 F2

Sources for Prothrombin-Related Thrombophilia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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