MCID: THR015
MIFTS: 65

Thrombophilia malady

Blood category

Summaries for Thrombophilia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
See all sources

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Wikipedia:64 Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

MalaCards: Thrombophilia, also known as hypercoagulability state, is related to thromboembolism and venous thrombosis. An important gene associated with Thrombophilia is HRG (histidine-rich glycoprotein), and among its related pathways are Cell adhesion Plasmin signaling and Selected targets of HNF1. The compounds warfarin and hirugen have been mentioned in the context of this disorder. Affiliated tissues include ovary, liver and kidney, and related mouse phenotypes are cardiovascular system and reproductive system.

Description from OMIM:47 188050

Aliases & Classifications for Thrombophilia

Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 47OMIM, 35MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

thrombophilia 8 20 22 10 45 61
hypercoagulability state 8


External Ids:

Disease Ontology8 DOID:2452
OMIM47 188050
MeSH35 D019851

Related Diseases for Thrombophilia

Sources:
17GeneCards, 18GeneDecks
See all sources

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 234)
idRelated DiseaseScoreTop Affiliating Genes
1thromboembolism31.1PROC, HRG, F2, PLG, PLAT, THBD
2venous thrombosis31.0F5, MTHFR, PROCR, PROS1, PROC, HRG
3pregnancy loss30.9APOH, F5, F2, MTHFR, SERPINC1
4factor v leiden thrombophilia30.8PLG, SERPINE1, SERPIND1, THBD, PLAT, F2
5protein c deficiency30.6F9, APOH, F5, MTHFR, PROCR, PROS1
6stroke, ischemic30.6F5, F2
7protein s deficiency30.4F9, F5, SERPINC1
8antiphospholipid syndrome30.4PLAT, F2, PROS1, PROCR, THBD, SERPINC1
9eclampsia30.4SERPINC1, MTHFR, THBD
10ovarian hyperstimulation syndrome30.3F5
11central retinal vein occlusion30.2PLAT, MTHFR, F5, APOH
12placental abruption30.2SERPINC1, MTHFR, F5
13portal vein thrombosis30.2F5, MTHFR, PROS1, F2, SERPINC1
14acute myocardial infarction30.2HRG, PLG, PLAT, THBD, SERPINE1, SERPINC1
15vascular disease30.2APOH, F5, MTHFR, F13A1, PLAT, THBD
16hyperhomocysteinemia30.2F9, F5, APOH, THBD, PLAT, F2
17patent foramen ovale30.1F5
18varicose veins30.1F2
19hellp syndrome30.1APOH, F5, MTHFR, SERPINE1, SERPINC1
20sickle cell disease30.1F9
21hypercholesterolemia30.1THBD, F9, SERPINE1
22coronary artery disease,30.1THBD, PLAT, MTHFR, F9, PLG, SERPINE1
23adenocarcinoma30.1THBD, F13A1, PROS1, HABP2, PLG
24polycythemia vera30.0THBD
25hemolytic-uremic syndrome30.0THBD
26homocystinuria30.0MTHFR, F5, SERPINC1
27peripheral vascular disease30.0THBD, PLAT, MTHFR
28thrombophilia, x-linked, due to factor ix defect30.0EMB, F9
29thrombophlebitis29.7APOH
30central retinal artery occlusion29.7PLAT
31polycystic ovary syndrome29.7SERPINE1
32branch retinal artery occlusion29.7F5
33factor v deficiency29.7F5, F2
34coronary thrombosis29.7PLAT, SERPINC1, SERPINE1
35thrombocytosis29.7SERPINC1, THBD, F2
36vasculitis29.7PROS1, APOH, F2, THBD
37primary hyperoxaluria29.7THBD, SERPINE1, PLG, SERPINC1
38mondor disease29.7F5, APOH
39legg-calve-perthes disease29.7SERPINC1, F5
40dysfibrinogenemia29.7F5, F13A1, SERPINC1, SERPIND1, F2, PLAT
41coronary heart disease29.7MTHFR, PROCR, PLG, PLAT, THBD, SERPINE1
42acute leukemia29.7MTHFR
43sepsis29.7SERPINE1, F2, PROCR, F5, PLG, THBD
44atherosclerosis29.7APOH, HABP2, MTHFR, F13A1, PROCR, PLG
45neural tube defects29.7MTHFR
46venous thromboembolism10.7
47prothrombin-related thrombophilia10.6
48osteonecrosis10.3
49protein r deficiency10.2
50cushing's syndrome10.2

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to thrombophilia

Clinical Features for Thrombophilia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

188050

Drugs & Therapeutics for Thrombophilia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Thrombophilia

Drug clinical trials:

Search ClinicalTrials for Thrombophilia

Search NIH Clinical Center for Thrombophilia

Search CenterWatch for Thrombophilia

Genetic Tests for Thrombophilia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Thrombophilia:

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

Anatomical Context for Thrombophilia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Thrombophilia:

33
Ovary, Liver, Kidney, Lung, Heart, Small intestine, Colon, Thyroid, Breast, Placenta, B lymphoblasts, B cells, Endothelial, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Thrombophilia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Thrombophilia

Sources:
51PubMed
See all sources

Articles related to Thrombophilia:

(show top 50)    (show all 868)
idTitleAuthorsYear
1
Hereditary thrombophilia in cerebral venous thrombosis: a study from India. (24370583)
2014
2
Prevalence of genetic risk factors related with thrombophilia and hypofibrinolysis in patients with osteonecrosis of the femoral head in Poland. (24025446)
2013
3
Primary Thrombophilia in Mexico X: A Prospective Study of the Treatment of the Sticky Platelet Syndrome. (24057395)
2013
4
Polymorphisms in Factor II and Factor V thrombophilia genes among Circassians in Jordan. (23011539)
2013
5
A practical approach to thrombophilia testing. (24049827)
2013
6
Unmasking Asian thrombophilia: is APC dysfunction the real culprit? (22905992)
2012
7
GeneXpert in the diagnosis of risk factors for thrombophilia: evaluation of its use in a small laboratory. (22244005)
2012
8
Atypical timing and presentation of periventricular haemorrhagic infarction in preterm infants: the role of thrombophilia. (22098125)
2012
9
Low-molecular-weight heparin added to aspirin in the prevention of recurrent early-onset pre-eclampsia in women with inheritable thrombophilia: the FRUIT-RCT. (22118560)
2012
10
Thrombophilia testing--reducing the burden. (23008892)
2012
11
Prevalence of inherited thrombophilia in patients with documented stent thrombosis. (22665071)
2012
12
Atherothrombosis in 2 vascular territories in a young woman: importance of thrombophilia testing. (20460352)
2011
13
Clinical characteristics and type of thrombophilia in women with pregnancy-related venous thromboembolic disease. (21606637)
2011
14
Treatment of adverse perinatal outcome in inherited thrombophilias: a clinical study. (21042205)
2011
15
Donor screening algorithm for exclusion of thrombophilia during evaluation of living donor liver transplantation. (20394636)
2011
16
Genetic predisposition to thrombophilia in inflammatory bowel disease. (20717043)
2011
17
The role of thrombophilia in patients with retinal vein occlusion and no systemic risk factors. (20379305)
2010
18
Thrombophilia and the risk of thromboembolic events in women on oral contraceptives and hormone replacement therapy. (20581664)
2010
19
Thrombophilia screening--at the right time, for the right patient, with a good reason. (21054190)
2010
20
Prospective analysis of risk factors and distribution of venous thromboembolism in the population-based MalmAP Thrombophilia Study (MATS). (19497611)
2009
21
Placental histomorphology in unexplained foetal loss with thrombophilia. (19293440)
2009
22
Inherited thrombophilia in patients with thrombotic thrombocytopenic purpura. (19411093)
2009
23
Inherited thrombophilia: implications for prevention and treatment of venous thromboembolism. (20013535)
2009
24
Thrombophilia: 2009 update. (19289024)
2009
25
Inherited thrombophilias and unexplained pregnancy loss: an incident case-control study. (19036071)
2009
26
Testing for hereditary thrombophilia: a retrospective analysis of testing referred to a national laboratory. (18384680)
2008
27
The cost-benefit ratio of screening pregnant women for thrombophilia. (19204775)
2007
28
Management of pregnant women with thrombophilia or a history of venous thromboembolism. (18024622)
2007
29
Thrombophilia and the obstetric patient. (17766616)
2007
30
Polymorphisms in the endothelial protein C receptor gene and thrombophilia. (17849044)
2007
31
Oral contraceptive use, thrombophilia and their interaction in young women with ischemic stroke. (16769590)
2006
32
Acute myocardial infarction following an arthropod bite: is hereditary thrombophilia a contributing factor? (16988555)
2006
33
Arterial ocular occlusion associated with systemic venous thrombophilia--2 case reports]. (17131252)
2006
34
Protein Z, protein S levels are lower in patients with thrombophilia and subsequent pregnancy complications. (15748239)
2005
35
The optimal duration of secondary thromboprophylaxis in patients with venous thromboembolism. The importance of thrombophilia screening. (15773739)
2005
36
Excellent outcome in infants and small children with thrombophilias undergoing kidney transplantation. (15667609)
2005
37
Thrombophilia and pregnancy outcomes. (16102025)
2005
38
The prevalence of inherited thrombophilias in a Caucasian Australian population. (16028846)
2005
39
A negative personal and family history for venous thrombotic events is not sufficient to exclude thrombophilia in patients with cerebral venous thrombosis. (15272901)
2004
40
Pronto ThromboRisk--a novel primer-extension ELISA based assay for the detection of mutations associated with increased risk for thrombophilia. (15356875)
2004
41
The PAI-1 gene 4G/5G polymorphism and deep vein thrombosis in patients with inherited thrombophilia. (14653439)
2003
42
Increased prevalence of thrombophilia among women with severe ovarian hyperstimulation syndrome. (11872195)
2002
43
Inherited thrombophilia and first venous thromboembolism during pregnancy and puerperium. (12038778)
2002
44
Olav Egeberg--hereditary antithrombin deficiency and thrombophilia]. (11301618)
2001
45
The molecular basis of inherited thrombophilia. (10938925)
2000
46
Activation of the protein C pathway in hereditary thrombophilia. (9798968)
1998
47
Hereditary thrombophilia and venous thromboembolism. (9817680)
1998
48
Laboratory diagnosis of hereditary thrombophilia. (9763348)
1998
49
Thrombophilia and fetal loss. (9242990)
1997
50
Risk of thrombosis with oral contraceptives: value of a thrombophilia screening test]. (8967151)
1996

Genetic Variations for Thrombophilia

Expression for genes affiliated with Thrombophilia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 54Reactome, 50PharmGKB, 38NCBI BioSystems Database, 52QIAGEN, 53R&D Systems, 30KEGG
See all sources

Pathways related to Thrombophilia according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3FGG, PLAT, PLG
210.3F13A1, APOH, PROC
310.3PROS1, PROC, F2, THBD
410.3F9, F2, PROC, PROS1
5
Hide members
10.3PROC, F9, PROS1, F2
610.3SERPINE1, PLAT, PLG, HRG
7
Cell adhesion ECM remodeling
Hide members
10.3PLG, FGG, PLAT, SERPINE1
8
Hide members
10.3PLG, THBD, FGG, F2, HRG
9
Hide members
10.3F9, PROC, F13A1, F5, PROS1
1010.3SERPINE1, MTHFR, F2, PLG, PLAT
11
Hide members
10.2SERPINE1, PLG, HRG, FGG, F13A1, PROS1
12
Hide members
10.1F5, F13A1, PROS1, PROC, FGG, F2
13
Hide members
10.0F9, F5, F13A1, PROS1, PROC, FGG
14
Hide members
9.9SERPINE1, SERPINC1, SERPIND1, THBD, F9, F5
15
Hide members
9.9F9, F5, F13A1, PROS1, SERPINC1, SERPINE1

Compounds for genes affiliated with Thrombophilia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR
See all sources

Compounds related to Thrombophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 163)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.7F9, APOH, PROC, SERPINC1
2hirugen4510.7F2, F5, SERPINC1, THBD
3batroxobin4510.7SERPINE1, F2, PLAT, F5
4coumarins4510.7F9, APOH
5spectrozyme4510.7SERPINC1, F2, F5, PLAT
6heparinoids4510.7SERPINC1, F13A1, F2, THBD, F5
7fondaparinux4510.7SERPINC1, THBD, PLAT, F9, F5, F2
8bivalirudin45 1111.7F5, F2, PLAT, THBD, SERPINC1
9Drotrecogin alfa1110.7PROCR, PROS1, F2, THBD, SERPINE1, F5
10ancrod4510.7F5, F2, PLAT, THBD, SERPINE1, SERPINC1
11benzamidine45 1111.7F5, THBD, SERPINC1, PLG, F9
12argatroban45 1111.7SERPINC1, THBD, PLAT, F2, F5
13fibrinopeptide a4510.6PLAT, F2, SERPINC1, THBD
14aprotinin45 1111.6THBD, SERPINC1, SERPINE1, PLAT, F5, F9
15serine4510.6SERPIND1, F9, PROCR, PLG, HRG, PROS1
16gamma-carboxyglutamic acid4510.6F9, F5, PROCR, PROS1, PROC, F2
17ristocetin4510.6SERPINC1, F9, F5, F2, PLAT
18epsilon aminocaproic acid4510.6SERPINC1, F9, HRG, F2, PLG, PLAT
19tranexamic acid45 1111.6F2, PLG, PLAT, SERPINE1, F9, SERPINC1
20p-amino benzamidine4510.6SERPINE1, PLAT, SERPINC1, F9
21kaolin4510.6APOH, F9, F2, F5
22ximelagatran45 1111.6F5, F2, SERPINC1, THBD
2311-dehydrothromboxane b24510.6APOH, F2, SERPINE1, THBD
24desmopressin45 60 29 1113.6F5, F2, PLAT, THBD, F9, SERPINE1
25dermatan sulfate4510.6F9, F5, HRG, F2, PLAT, SERPINC1
26phosphatidylethanolamine45 1111.6F9, F2, HABP2, F5, PROCR, APOH
27protamine sulfate4510.6F5, PLAT, SERPINC1, F2
28heparin45 29 11 2413.6SERPIND1, PLG, HRG, PROS1, F13A1, MTHFR
29pge14510.6APOH, THBD, PLAT, SERPINE1, F5, F2
30hirudin4510.6SERPINE1, SERPINC1, PLAT, THBD, F2, F9
31protamine4510.5SERPINC1, PLAT, F2, F5, SERPINE1
32homocysteine45 2411.5F2, PLAT, THBD, SERPINE1, SERPINC1, MTHFR
33cyclophosphamide45 50 1112.5F5, MTHFR, APOH, THBD
34prostacyclin4510.5PROS1, PLAT, F5, THBD, SERPINE1, SERPINC1
35phospholipid4510.5F2, THBD, PROC, PROS1, PROCR, F5
36dextran sulfate4510.5APOH, F9, HABP2, F5, SERPINC1
37menadione45 11 2412.5F9, MTHFR, PROS1, F2, PROC
38aspirin45 50 29 2413.5APOH, MTHFR, F13A1, F2, PLAT, THBD
39heparin sodium4510.5THBD, PLAT, F2
40creatinine4510.4THBD, SERPINC1, F9, SERPINE1, PLAT, MTHFR
41inogatran4510.4SERPINC1, F2, F5
42kininogen4510.4APOH, HABP2, F9, F5, THBD, SERPINE1
43heparan sulfate45 2411.4SERPINC1, SERPINE1, THBD, HABP2, PLAT, HRG
44endotoxin4510.4THBD, SERPINE1, F5, PROCR, APOH, F9
45ecarin4510.3F2, SERPINC1, F5
46vegf4510.3SERPINC1, SERPINE1, APOH, THBD, PLG, F5
47fibrinogen4510.2SERPINC1, SERPINE1, SERPIND1, THBD, PLAT, PLG
48estrogen4510.1MTHFR, F5, F9, F13A1, F2, SERPINC1
49cholesterol45 29 11 2413.0PLAT, PROS1, MTHFR, F5, APOH, F9
50levonorgestrel45 60 29 1113.0F2, PLAT, F5, SERPINC1

GO Terms for genes affiliated with Thrombophilia

Sources:
16Gene Ontology
See all sources

Cellular components related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:03109310.3F13A1, SERPINE1, F5, PLG, HRG, FGG
2Golgi lumenGO:00579610.2PROS1, PROC, F2, F9
3plasma membraneGO:00588610.1F5, SERPINC1, SERPINE1, THBD, PLG, F2
4extracellular spaceGO:00561510.0F2, SERPINC1, SERPINE1, SERPIND1, PLAT, FGG
5cell surfaceGO:00998610.0APOH, FGG, PLG, THBD, PLAT
6extracellular regionGO:00557610.0HRG, F9, HABP2, F5, F13A1, F2

Biological processes related to Thrombophilia according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.6F9, PROS1, PROC, F2
2positive regulation of blood coagulationGO:03019410.6APOH, F2, SERPINE1
3negative regulation of blood coagulationGO:03019510.6APOH, SERPINE1, THBD, PROC
4fibrinolysisGO:04273010.5PROS1, F2, PLG, HRG, PLAT, SERPINE1
5negative regulation of fibrinolysisGO:05191810.5HRG, F2, PLG, THBD, APOH, SERPINE1
6blood coagulation, intrinsic pathwayGO:00759710.5APOH, F2, F9
7negative regulation of endopeptidase activityGO:01095110.5SERPINC1, SERPINE1, SERPIND1, PROS1
8negative regulation of cell adhesion mediated by integrinGO:03362910.5SERPINE1, HRG
9platelet degranulationGO:00257610.5SERPINE1, F5, F13A1, PLG, HRG, PROS1
10leukocyte migrationGO:05090010.5F2, THBD, PROC, PROS1
11platelet activationGO:03016810.4PLG, HRG, FGG, PROS1, F13A1, F5
12proteolysisGO:00650810.4PLAT, F2, HABP2, F9, PROC, PROS1
13negative regulation of platelet activationGO:01054410.4F2, THBD
14post-translational protein modificationGO:04368710.4PROS1, F2, PROC, F9
15plasminogen activationGO:03163910.4APOH, PLAT
16regulation of blood coagulationGO:03019310.3F2, HRG
17blood coagulationGO:00759610.2HRG, SERPIND1, THBD, PLAT, PLG, F2
18cellular protein metabolic processGO:04426710.0PLG, PROS1, PROC, F2, F9

Molecular functions related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00820110.3SERPINC1, SERPIND1, HRG, APOH
2serine-type endopeptidase activityGO:00425210.1PLAT, PLG, F2, PROC, HABP2, F9
3serine-type endopeptidase inhibitor activityGO:00486710.0HRG, SERPIND1, SERPINE1, SERPINC1

Products for genes affiliated with Thrombophilia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombophilia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet