MCID: THR015
MIFTS: 67

Thrombophilia malady

Genetic diseases (common), Blood diseases categories
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Summaries for Thrombophilia

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Wikipedia:65 Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

MalaCards based summary: Thrombophilia, also known as hypercoagulability state, is related to pregnancy loss and eclampsia. An important gene associated with Thrombophilia is F2 (coagulation factor II (thrombin)), and among its related pathways are Syndecan-4-mediated signaling events and Regulation of Insulin-like Growth Factor (IGF) Transport and Uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). The compounds inogatran and ecarin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and placenta, and related mouse phenotypes are nervous system and liver/biliary system.

Description from OMIM:46 188050

Aliases & Classifications for Thrombophilia

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Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 62UMLS, 57SNOMED-CT, 46OMIM, 34MeSH
See all sources

Thrombophilia, Aliases & Descriptions:

Name: Thrombophilia 8 20 22 10 44 62
 
Hypercoagulability State 8 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Blood diseases


External Ids:

Disease Ontology8 DOID:2452
OMIM46 188050
MeSH34 D019851

Related Diseases for Thrombophilia

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Diseases in the Thrombophilia family:

Thrombophilia Due to Factor V Leiden Thrombophilia Due to Activated Protein C Resistance
Thrombophilia Due to Elevated Hrg Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Decreased Release of Tissue Plasminogen Thrombophilia Due to Thrombin Defect
Thrombophilia Due to Thrombomodulin Defect

Diseases related to Thrombophilia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 198)
idRelated DiseaseScoreTop Affiliating Genes
1pregnancy loss31.1F5, F2
2eclampsia31.1THBD
3central retinal vein occlusion31.0F5
4factor xii deficiency30.5F5
5placental abruption30.4F5, F2, PROS1
6portal vein thrombosis30.4F5, F2, PROS1
7pulmonary embolism30.4F2, PROS1, F5, PLG
8antiphospholipid syndrome30.3F5, THBD, F2, PROS1
9hellp syndrome30.3F5, SERPINE1
10factor xi deficiency30.2F2, F5
11factor x deficiency30.2F5, F2
12myocardial infarction30.2HRG, SERPINE1, PLG, F5
13protein s deficiency30.2F2, F5, PROS1, SERPINE1
14coronary thrombosis30.1SERPINE1
15factor v leiden thrombophilia30.1F5, THBD, PLG, SERPINE1, F2
16thromboembolism30.0HRG, PLG, F5, PROC, SERPINE1, THBD
17pre-eclampsia30.0F5, THBD, SERPINE1, F2
18venous thrombosis30.0F2, SERPINE1, PROC, PROS1, F5, HRG
19antithrombin iii deficiency30.0PROS1, F2, F5
20vascular disease30.0THBD, SERPINE1, F5
21dysfibrinogenemia30.0F2, F5, THBD
22vasculitis29.9PROS1, THBD, F2
23thrombocytosis29.9THBD, F2
24acute myocardial infarction29.9THBD, PLG, HRG, SERPINE1
25diabetes mellitus29.6SERPINE1, PROS1, PLG, THBD
26hypertension29.6F2, F5, PLG, PROS1, SERPINE1
27thrombocytopenia29.6F5, THBD, PLG, F2
28hyperhomocysteinemia29.4F2, HRG, F5, PROS1, SERPINE1, THBD
29primary hyperoxaluria29.3THBD, SERPINE1, PROS1
30protein c deficiency29.1THBD, SERPINE1, PROC, PROS1, PLG, F5
31cerebrovascular disease29.1PLG, SERPINE1, F2, F5, THBD
32sepsis28.8PROC, SERPINE1, F2, F5, PLG, THBD
33venous thromboembolism10.8
34prothrombin-related thrombophilia10.7
35hepatic vein thrombosis10.5PROS1
36homocysteinemia10.5F5
37retinitis10.5
38cerebritis10.4
39mediterranean spotted fever10.4THBD
40osteonecrosis10.4
41afibrinogenemia10.4FGG
42hemophilia b10.3F2
43meningococcemia10.3F5, THBD
44retinal vein occlusion10.3
45sagittal sinus thrombosis10.3F5, PROS1
46stroke, ischemic10.3F2, F5
47intracranial thrombosis10.3F5, PLG
48prothrombin deficiency10.3F2, F5
49infertility10.3
50congenital antithrombin deficiency type 310.3

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to thrombophilia

Symptoms for Thrombophilia

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Clinical features from OMIM:

188050

Drugs & Therapeutics for Thrombophilia

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Drug clinical trials:

Search ClinicalTrials for Thrombophilia

Search NIH Clinical Center for Thrombophilia

Genetic Tests for Thrombophilia

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Genetic tests related to Thrombophilia:

id Genetic test Affiliating Genes
1 Thrombophilia Multi-Gene Panels20
2 Thrombophilia20 22

Anatomical Context for Thrombophilia

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MalaCards organs/tissues related to Thrombophilia:

32
Testes, Liver, Placenta, Endothelial, Kidney, Bone, Heart, Eye, Colon, Lung, Thyroid, Breast, Ovary

Animal Models for Thrombophilia or affiliated genes

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MGI Mouse Phenotypes related to Thrombophilia:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8F5, PLG, PROS1, PROC, THBD, F2
2MP:00053707.7THBD, SERPINE1, PROC, PROS1, PLG, F5
3MP:00053807.7F2, THBD, PROS1, F5, FGG
4MP:00107717.7F2, THBD, SERPINE1, PROS1, PLG, F5
5MP:00053887.4F2, THBD, SERPINE1, PROC, PLG, FGG
6MP:00053877.0F2, THBD, SERPINE1, PROC, PLG, HRG
7MP:00053786.8F2, THBD, SERPINE1, PROC, PLG, F5
8MP:00053976.7F2, THBD, SERPINE1, PROC, PROS1, PLG
9MP:00053856.6F2, THBD, SERPINE1, PROC, PROS1, PLG
10MP:00107686.5F2, THBD, SERPINE1, PROC, PROS1, PLG
11MP:00053766.3FGG, F2, THBD, SERPINE1, PROC, PROS1

Publications for Thrombophilia

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Articles related to Thrombophilia:

(show top 50)    (show all 882)
idTitleAuthorsYear
1
Inherited and secondary thrombophilia. (24421360)
2014
2
Association between prothrombin gene polymorphisms and hereditary thrombophilia in Xinjiang Kazakhs population. (24162564)
2013
3
Thrombophilia and vascular risk factors in retinal vein occlusion. (23566482)
2013
4
Pediatric thrombophilia. (24237981)
2013
5
Contribution of Recurrent Venous Thrombosis and Inherited Thrombophilia to the Pathogenesis of Postthrombotic Syndrome. (23892685)
2013
6
Association between pre-eclampsia and inherited thrombophilias. (23002795)
2013
7
C6 knock-out mice are protected from thrombophilia mediated by antiphospholipid antibodies. (22933620)
2012
8
Ante- and postpartum redox status of blood in women with inherited thrombophilia treated with heparin. (22981678)
2012
9
Inherited thrombophilia and IVF failure: the impact of coagulation disorders on implantation process. (22620672)
2012
10
Unmasking Asian thrombophilia: is APC dysfunction the real culprit? (22905992)
2012
11
Thrombophilia and early pregnancy loss. (22079389)
2012
12
Atherothrombosis in 2 vascular territories in a young woman: importance of thrombophilia testing. (20460352)
2011
13
Perioperative bridging therapy with low molecular weight heparin for patients with inherited thrombophilia and antiphospholipid syndrome on long-term acenokumarol therapy. (21076281)
2011
14
Thrombophilia screening or screaming. (20345713)
2010
15
Rapid multiplexed genotyping for hereditary thrombophilia by SELDI-TOF mass spectrometry. (20186013)
2010
16
Consequences of thrombophilia screening for life quality in women before prescription of oral contraceptives and family members of VTE patients. (19151859)
2009
17
Clinical management of Rendu-Osler-Weber syndrome and genetic thrombophilia. (20519971)
2009
18
Association of inherited thrombophilia with embryonic and postembryonic recurrent pregnancy loss. (19786941)
2009
19
Inherited thrombophilia as the reason of recurrent miscarriges in the first trimester of pregnancy]. (19886238)
2009
20
Dual genetic abnormality in the coagulation pathway as a cause of familial thrombophilia. (20329415)
2009
21
Assessment and management of high-risk pregnancies in women with thrombophilia. (19135285)
2009
22
Thrombophilia and pulmonary endarterectomy. (19591378)
2009
23
Inherited thrombophilia and preeclampsia: is the evidence beginning to congeal? (19185098)
2009
24
Should patients with venous thromboembolism be screened for thrombophilia? (18501222)
2008
25
Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. (18068170)
2008
26
Inheritance and perinatal consequences of inherited thrombophilia in Greece. (17963764)
2008
27
Thrombophilia and adverse pregnancy outcome. (18063103)
2007
28
Mechanisms of thrombophilia. (17849035)
2007
29
Primary thrombophilia in MAcxico. VI: lack of statistical association among the inherited thrombophilic conditions]. (17969840)
2007
30
Screening for inherited thrombophilia might be warranted among Eastern Mediterranean sickle-beta-0 thalassemia patients. (17008978)
2006
31
Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. (16917913)
2006
32
No increase in rejection or graft loss in kidney transplant recipients with thrombophilia treated with anticoagulation and triple immunosuppression. (15919499)
2005
33
Thrombophilia in children with cystic fibrosis. (15678507)
2005
34
External quality assessment and the laboratory diagnosis of thrombophilia. (15706476)
2005
35
Frequency of hereditary thrombophilia: an AKUH experience. (15461212)
2004
36
The PAI-1 gene 4G/5G polymorphism and deep vein thrombosis in patients with inherited thrombophilia. (14653439)
2003
37
Mutations in the thrombomodulin gene are rare in patients with severe thrombophilia. (12139752)
2002
38
Prevalence of inherited thrombophilia in young thrombosis patients from the East Bohemian region. (12192310)
2002
39
The C677T mutation in the methylenetetrahydrofolate reductase gene and its association with deep vein thrombophilia in Shandong Hans]. (12170465)
2002
40
Congenital thrombophilia associated to obstetric complications. (12714837)
2002
41
Portal vein thrombosis after variceal endoscopic sclerotherapy in cirrhotic patients: role of genetic thrombophilia. (12170404)
2002
42
Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. (11301618)
2001
43
Laboratory findings associated with thrombophilia are not more common in inflammatory bowel disease. (11012640)
2000
44
Constitutional thrombophilias: indications of the biological profile and therapeutic consequences]. (10667107)
1999
45
Familial thrombophilia: clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency. (8981666)
1996
46
Molecular biological analysis of hereditary thrombophilia--genetic characterization of protein S deficiency]. (7783333)
1995
47
Acquired protein C dysfunction but not decreased activity of thrombomodulin is a possible marker of thrombophilia in patients with lupus anticoagulant. (7822946)
1995
48
Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease. (8047373)
1994
49
Thrombophilia: the new factor is old factor V. (7911865)
1994
50
Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. (2437584)
1987

Variations for Thrombophilia

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Clinvar genetic disease variations for Thrombophilia:

6
id Gene Name Type Significance SNP ID Assembly Location
1F2NM_000506.3(F2): c.1787G> T (p.Arg596Leu)single nucleotide variantPathogenicrs387907201GRCh37Chr 11, 46760876: 46760876

Expression for genes affiliated with Thrombophilia

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Expression patterns in normal tissues for genes affiliated with Thrombophilia

Search GEO for disease gene expression data for Thrombophilia.

Pathways for genes affiliated with Thrombophilia

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Pathways related to Thrombophilia according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5PLG, F2
29.5PLG, F2
3
Show member pathways
9.3FGG, F2
49.3FGG, F2
5
Show member pathways
9.3F2, PROC, PROS1
69.0FGG, PLG
79.0FGG, PLG
8
Show member pathways
thioredoxin pathway37
9.0PLG, SERPINE1, F2
99.0SERPINE1, PLG, HRG
10
Show member pathways
8.8PROS1, PROC, THBD, F2
11
Show member pathways
8.7F2, PROC, PROS1, PLG
12
Show member pathways
8.5SERPINE1, PLG, FGG
13
Show member pathways
8.5FGG, PLG, SERPINE1
14
Show member pathways
7.6F2, THBD, PROC, PROS1, F5, FGG
15
Show member pathways
7.3SERPINE1, PROS1, PLG, F5, HRG, FGG
16
Show member pathways
6.4SERPINE1, THBD, F2, PROC, PROS1, FGG
17
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
6.4FGG, F5, PLG, PROS1, PROC, SERPINE1
18
Show member pathways
6.1FGG, HRG, F5, PLG, PROS1, PROC

Compounds for genes affiliated with Thrombophilia

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Compounds related to Thrombophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 92)
idCompoundScoreTop Affiliating Genes
1inogatran4410.0F5, F2
2ecarin4410.0F2, F5
3spectrozyme4410.0F2, F5
4heparin sodium449.9F2, THBD
5monoethylglycinexylidide449.8F5, F2
6fibrinopeptide a449.7THBD, F2
7hirugen449.7F5, THBD, F2
8danaparoid449.7F2, F5
9batroxobin449.7F5, F2, SERPINE1
10ximelagatran44 1110.7THBD, F2, F5
11heparinoids449.7F2, THBD, F5
12fondaparinux449.7F2, THBD, F5
13bivalirudin44 1110.7THBD, F2, F5
14argatroban44 1110.6F2, F5, THBD
15cyproteroneacetate449.6F2, SERPINE1, F5
16cardiolipin44 1110.6F5, THBD, F2
17protamine449.6SERPINE1, F2, F5
18menadione44 24 1111.5PROC, PROS1, F2
1911-dehydrothromboxane b2449.5F2, THBD, SERPINE1
20kaolin449.5F5, F2
21paricalcitol44 1110.4SERPINE1, THBD
22polyethylene glycol449.4THBD, F5, F2
23tranexamic acid44 1110.4F2, PLG, SERPINE1
24mycophenolate mofetil44 50 1111.4THBD, SERPINE1, F5
25raloxifene44 50 28 1112.3THBD, SERPINE1, F5
26dermatan sulfate449.3THBD, HRG, F2, F5
27benzamidine44 1110.3F5, PLG, THBD
28warfarin44 50 24 1112.3F2, PROC, F5, THBD
29vitamin-e449.2PROS1, F5, THBD
30ancrod449.2THBD, F5, SERPINE1, F2
31desmopressin44 61 28 1112.2F2, THBD, SERPINE1, F5
32hirudin449.2SERPINE1, THBD, F2, F5
33pge1449.1SERPINE1, F2, F5, THBD
34homocysteine44 2410.1F5, SERPINE1, THBD, F2
35simvastatin44 50 61 28 24 1114.1F2, F5, SERPINE1, THBD
36epsilon aminocaproic acid449.1HRG, SERPINE1, F2, PLG
37aspirin44 50 28 2412.1F5, SERPINE1, THBD, F2
38nacl449.0F5, HRG, THBD, PLG
39prostacyclin449.0F5, THBD, PROS1, SERPINE1
40gamma-carboxyglutamic acid448.8F2, F5, PROS1, THBD, PROC
41phospholipid448.8F5, F2, THBD, PROC, PROS1
42matrigel448.8HRG, THBD, PLG, SERPINE1
43creatinine448.6PROS1, SERPINE1, F5, F2, THBD
44aprotinin44 119.6F5, PLG, SERPINE1, THBD, F2
45steroid448.5HRG, F5, PLG, PROS1, THBD
46vegf448.2SERPINE1, THBD, PROS1, F5, PLG
47kininogen448.2THBD, SERPINE1, F2, PLG, F5, HRG
48heparin44 28 24 1110.4PROC, HRG, F5, PLG, PROS1, THBD
49serine447.3F5, F2, THBD, SERPINE1, PROC, PROS1
50fibrinogen447.0THBD, SERPINE1, F5, HRG, FGG, F2

GO Terms for genes affiliated with Thrombophilia

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Cellular components related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.0F2, PROC, PROS1
2cell surfaceGO:0099868.5FGG, PLG, THBD
3blood microparticleGO:0725628.0F2, PROS1, PLG, HRG, FGG
4platelet alpha granule lumenGO:0310937.5FGG, SERPINE1, PROS1, PLG, F5, HRG
5extracellular spaceGO:0056157.3F2, THBD, SERPINE1, PLG, F5, FGG
6extracellular regionGO:0055766.7F2, SERPINE1, PROC, PROS1, PLG, F5
7plasma membraneGO:0058866.4F2, THBD, SERPINE1, PROC, PLG, F5

Biological processes related to Thrombophilia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood coagulationGO:03019310.0HRG, F2
2negative regulation of cell adhesion mediated by integrinGO:0336299.8HRG, SERPINE1
3negative regulation of platelet activationGO:0105449.7F2, THBD
4positive regulation of blood coagulationGO:0301949.6SERPINE1, F2
5peptidyl-glutamic acid carboxylationGO:0171879.5F2, PROC, PROS1
6negative regulation of blood coagulationGO:0301959.2PROC, SERPINE1, THBD
7proteolysisGO:0065089.2F2, PROC, PROS1
8post-translational protein modificationGO:0436879.0PROS1, PROC, F2
9leukocyte migrationGO:0509009.0F2, THBD, PROC, PROS1
10cellular protein metabolic processGO:0442678.7PLG, PROS1, PROC, F2
11extracellular matrix organizationGO:0301988.5FGG, PLG, SERPINE1
12fibrinolysisGO:0427308.5F2, SERPINE1, PROS1, PLG, HRG
13negative regulation of fibrinolysisGO:0519188.4F2, THBD, SERPINE1, PLG, HRG
14platelet degranulationGO:0025767.6SERPINE1, PROS1, PLG, F5, HRG, FGG
15platelet activationGO:0301687.3F2, SERPINE1, PROS1, PLG, F5, HRG
16blood coagulationGO:0075966.4FGG, F2, THBD, SERPINE1, PROC, PROS1

Molecular functions related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042528.8F5, PLG, PROC, F2
2calcium ion bindingGO:0055098.5F2, THBD, PROC, PROS1
3receptor bindingGO:0051028.4F2, SERPINE1, HRG, FGG
4protein bindingGO:0055157.4HRG, F5, PLG, PROC, SERPINE1, THBD

Products for genes affiliated with Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates

Sources for Thrombophilia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet