MCID: PRT045
MIFTS: 23

Prothrombin-Related Thrombophilia malady

Blood category

Summaries for Prothrombin-Related Thrombophilia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 occur in the deep veins of the legs. affected people also have an increased risk of developing a pulmonary embolism. however, most people with prothrombin thrombophilia never develop abnormal blood clots. prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor v leiden thrombophilia. it is more common in caucasian populations. 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. last updated: 12/5/2011

MalaCards: Prothrombin-Related Thrombophilia, also known as prothrombin g20210a thrombophilia, is related to thrombophilia and carotid stenosis. An important gene associated with Prothrombin-Related Thrombophilia is F2 (coagulation factor II (thrombin)), and among its related pathways are Platelet degranulation and Selenium Pathway. The compounds monoethylglycinexylidide and inogatran have been mentioned in the context of this disorder. Affiliated tissues include lung.

Genetics Home Reference:21 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.

GeneReviews summary for ptt

Aliases & Classifications for Prothrombin-Related Thrombophilia

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

prothrombin-related thrombophilia 19 43 20
prothrombin g20210a thrombophilia 19 43 21
prothrombin thrombophilia 19 43 21
factor ii-related thrombophilia 19 43
hyperprothrombinemia 43 21
prothrombin 20210g>a thrombophilia 19
prothrombin 20210g>a thrombophilia 43
f2-related thrombophilia 19


Related Diseases for Prothrombin-Related Thrombophilia

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Prothrombin-Related Thrombophilia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia30.3F2, F5, MTHFR, F13A1
2carotid stenosis10.0HABP2
3patent foramen ovale10.0F5
4purpura fulminans10.0F5
5ovarian hyperstimulation syndrome10.0F5
6branch retinal artery occlusion10.0F5
7retinal vascular occlusion10.0F5
8factor xii deficiency10.0F5
9varicose veins10.0F2
10thrombocytosis10.0F2
11dermatofibrosarcoma protuberans10.0F13A1
12hepatitis c10.0F2
13eclampsia10.0MTHFR
14hepatitis10.0F2
15coronary heart disease10.0MTHFR
16neural tube defects10.0MTHFR
17migraine10.0MTHFR
18peritonitis10.0F2
19acute leukemia10.0MTHFR
20prothrombin deficiency10.0F2, F5
21disseminated intravascular coagulation10.0F5, F2
22hepatitis a10.0F2
23factor x deficiency10.0F5, F2
24factor v deficiency10.0F5, F2
25factor xi deficiency10.0F5, F2
26hemorrhagic disease10.0F5, F2
27von willebrand's disease10.0F2, F5
28factor vii deficiency10.0F2, F5
29congenital heart defect10.0MTHFR
30stomach cancer10.0MTHFR
31factor viii deficiency10.0F2, F5
32afibrinogenemia10.0F2, F5
33scott syndrome10.0F2, F5
34thrombocytopenia10.0F2, F5
35homocysteinemia10.0MTHFR, F5
36central retinal vein occlusion10.0F5, MTHFR
37cerebrovascular disease10.0MTHFR, F13A1
38retinal vein occlusion10.0F5, MTHFR
39hellp syndrome10.0F5, MTHFR
40placental abruption10.0MTHFR, F5
41rheumatoid arthritis10.0MTHFR, F13A1
42hepatic vein thrombosis10.0MTHFR, F5
43galactosemia10.0F5, F2
44intracranial thrombosis10.0MTHFR, F5
45dysfibrinogenemia10.0F13A1, F2, F5
46homocystinuria10.0F5, MTHFR
47factor v leiden thrombophilia10.0F5, F2, F13A1
48atherosclerosis10.0HABP2, F13A1, MTHFR
49hepatocellular carcinoma10.0F2, F13A1
50protein c deficiency10.0MTHFR, F2, F5

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



Diseases related to prothrombin-related thrombophilia

Clinical Features for Prothrombin-Related Thrombophilia

Drugs & Therapeutics for Prothrombin-Related Thrombophilia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Prothrombin-Related Thrombophilia

Drug clinical trials:

Search ClinicalTrials for Prothrombin-Related Thrombophilia

Search NIH Clinical Center for Prothrombin-Related Thrombophilia

Search CenterWatch for Prothrombin-Related Thrombophilia

Genetic Tests for Prothrombin-Related Thrombophilia

Sources:
20GeneTests
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Genetic tests related to Prothrombin-Related Thrombophilia:

id Genetic test Affiliating Genes
1 Prothrombin-related Thrombophilia20 F2

Anatomical Context for Prothrombin-Related Thrombophilia

Sources:
33MalaCards
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MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

33
Lung

Animal Models for Prothrombin-Related Thrombophilia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Prothrombin-Related Thrombophilia

Sources:
51PubMed
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Articles related to Prothrombin-Related Thrombophilia:

idTitleAuthorsYear
1
Prothrombin-Related Thrombophilia (20301327)
1993

Genetic Variations for Prothrombin-Related Thrombophilia

Expression for genes affiliated with Prothrombin-Related Thrombophilia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Prothrombin-Related Thrombophilia

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

Pathways for genes affiliated with Prothrombin-Related Thrombophilia

Sources:
54Reactome, 38NCBI BioSystems Database, 52QIAGEN, 53R&D Systems, 30KEGG
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Compounds for genes affiliated with Prothrombin-Related Thrombophilia

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 2BitterDB, 60Tocris Bioscience, 29IUPHAR, 24HMDB
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Compounds related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1monoethylglycinexylidide4510.4F5
2inogatran459.9F2, F5
3hirugen459.9F5, F2
4ecarin459.9F2, F5
5spectrozyme459.9F2, F5
6danaparoid459.9F2, F5
7batroxobin459.9F2, F5
8ancrod459.9F2, F5
9ximelagatran45 1110.9F2, F5
10kaolin459.9F5, F2
11fondaparinux459.9F2, F5
12bivalirudin45 1110.9F2, F5
13acenocoumarol45 50 1111.9F5, F2
14Drotrecogin alfa119.9F2, F5
15argatroban45 1110.9F2, F5
16desogestrel45 1110.9F5, F2
17protamine sulfate459.9F5, F2
18gestodene45 1110.9F2, F5
19ofloxacin45 2 1111.9F5, F2
20penicillin459.8F5, F2
21antipyrine45 1110.8F2, F5
22ristocetin459.8F2, F5
23gamma-carboxyglutamic acid459.8F2, F5
24cyproteroneacetate459.8F5, F2
25levonorgestrel45 60 29 1112.8F5, F2
26desmopressin45 60 29 1112.8F2, F5
27coumarin45 2 50 2412.8F2, F5
28cardiolipin45 1110.8F5, F2
29hirudin459.7F2, F5
30protamine459.7F2, F5
31dermatan sulfate459.7F2, F5
32dextran sulfate459.6F5, HABP2
335-methyltetrahydrofolate45 1110.5MTHFR, F5
34pge1459.5F2, F5
35cystathionine459.5F5, MTHFR
36heparin45 29 11 2412.5MTHFR, F13A1
37phosphatidylethanolamine45 1110.4F2, F5, HABP2
38vitamin b6459.4F5, MTHFR
39heparinoids459.3F5, F13A1, F2
40menadione45 11 2411.3F2, MTHFR
41acetaminophen45 2 50 11 2413.2F5, F2
42metformin45 50 1111.1F5, MTHFR
43homocysteine45 2410.1F2, MTHFR, F5
44vitamin b12459.0F5, MTHFR
45creatinine458.8F5, MTHFR, F2
46kininogen458.8F2, F5, HABP2, F13A1
47aspartate458.8MTHFR, F5, F2
48aspirin45 50 29 2411.5F13A1, MTHFR, F5, F2
49estrogen458.4F5, F2, MTHFR, F13A1
50fibrinogen458.0F5, MTHFR, HABP2, F2, F13A1

GO Terms for genes affiliated with Prothrombin-Related Thrombophilia

Sources:
16Gene Ontology
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Cellular components related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0F13A1, F5
2extracellular regionGO:0055768.4F2, F13A1, F5, HABP2

Biological processes related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet degranulationGO:0025769.3F5, F13A1
2blood circulationGO:0080159.0F5, MTHFR
3platelet activationGO:0301688.9F5, F13A1, F2
4blood coagulationGO:0075968.6F5, F13A1, F2

Products for genes affiliated with Prothrombin-Related Thrombophilia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prothrombin-Related 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