MCID: PRT045
MIFTS: 31

Prothrombin-Related Thrombophilia malady

Blood diseases category

Summaries for Prothrombin-Related Thrombophilia

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21Genetics Home Reference, 42NIH Rare Diseases, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference
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Classifications:

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


Aliases & Descriptions:

prothrombin-related thrombophilia 19 42 20
prothrombin g20210a thrombophilia 19 42 21
prothrombin thrombophilia 19 42 21
factor ii-related thrombophilia 19 42
hyperprothrombinemia 42 21
prothrombin 20210g>a thrombophilia 19
prothrombin 20210g>a thrombophilia 42
f2-related thrombophilia 19


Related Diseases for Prothrombin-Related Thrombophilia

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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
1thrombophilia30.2F2, F13A1, MTHFR, F5
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 deficiency10.0F5, F2
21disseminated intravascular coagulation10.0F2, F5
22hepatitis a10.0F2
23factor x deficiency10.0F5, F2
24factor v deficiency10.0F5, F2
25factor xi deficiency10.0F5, F2
26hemorrhagic disease10.0F2, F5
27von willebrand's disease10.0F5, F2
28factor vii deficiency10.0F5, F2
29congenital heart defect10.0MTHFR
30stomach cancer10.0MTHFR
31afibrinogenemia10.0F5, F2
32factor viii deficiency10.0F5, F2
33scott syndrome10.0F5, F2
34thrombocytopenia10.0F2, F5
35homocysteinemia10.0F5, MTHFR
36central retinal vein occlusion10.0MTHFR, F5
37cerebrovascular disease10.0F13A1, MTHFR
38retinal vein occlusion10.0MTHFR, F5
39hellp syndrome10.0MTHFR, F5
40placental abruption10.0F5, MTHFR
41rheumatoid arthritis10.0F13A1, MTHFR
42hepatic vein thrombosis10.0F5, MTHFR
43galactosemia10.0F5, F2
44intracranial thrombosis10.0MTHFR, F5
45dysfibrinogenemia10.0F5, F13A1, F2
46homocystinuria10.0F5, MTHFR
47factor v leiden thrombophilia10.0F2, F13A1, F5
48atherosclerosis10.0F13A1, MTHFR, HABP2
49hepatocellular carcinoma10.0F2, F13A1
50protein c deficiency10.0F5, MTHFR, F2

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



Diseases related to prothrombin-related thrombophilia

Clinical Features for Prothrombin-Related Thrombophilia

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Drugs & Therapeutics for Prothrombin-Related Thrombophilia

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Sources:
5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

32
Lung

Animal Models for Prothrombin-Related Thrombophilia or affiliated genes

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Publications for Prothrombin-Related Thrombophilia

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50PubMed
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Articles related to Prothrombin-Related Thrombophilia:

idTitleAuthorsYear
1
Prothrombin-Related Thrombophilia (20301327)
1993

Genetic Variations for Prothrombin-Related Thrombophilia

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Expression for genes affiliated with Prothrombin-Related Thrombophilia

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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

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 52R&D Systems, 51QIAGEN
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Compounds for genes affiliated with Prothrombin-Related Thrombophilia

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 2BitterDB, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1monoethylglycinexylidide4410.4F5
2inogatran449.9F5, F2
3hirugen449.9F2, F5
4ecarin449.9F2, F5
5spectrozyme449.9F5, F2
6danaparoid449.9F2, F5
7batroxobin449.9F2, F5
8kaolin449.9F5, F2
9ancrod449.9F5, F2
10ximelagatran44 1110.9F5, F2
11fondaparinux449.9F2, F5
12Drotrecogin alfa119.9F5, F2
13acenocoumarol44 49 1111.9F5, F2
14bivalirudin44 1110.9F5, F2
15argatroban44 1110.9F5, F2
16desogestrel44 1110.9F5, F2
17protamine sulfate449.9F2, F5
18gestodene44 1110.9F2, F5
19ofloxacin44 2 1111.9F2, F5
20penicillin449.8F2, F5
21antipyrine44 1110.8F2, F5
22ristocetin449.8F2, F5
23gamma-carboxyglutamic acid449.8F5, F2
24cyproteroneacetate449.8F2, F5
25levonorgestrel44 59 28 1112.8F2, F5
26coumarin44 2 49 2412.8F5, F2
27desmopressin44 59 28 1112.8F5, F2
28cardiolipin44 1110.8F2, F5
29hirudin449.7F5, F2
30protamine449.7F2, F5
31dermatan sulfate449.7F2, F5
32dextran sulfate449.6F5, HABP2
335-methyltetrahydrofolate44 1110.5F5, MTHFR
34pge1449.5F2, F5
35cystathionine449.5F5, MTHFR
36heparin44 28 11 2412.5F13A1, MTHFR
37phosphatidylethanolamine44 1110.4F2, F5, HABP2
38vitamin b6449.4MTHFR, F5
39heparinoids449.3F2, F13A1, F5
40menadione44 11 2411.3F2, MTHFR
41acetaminophen44 2 49 11 2413.2F2, F5
42metformin44 49 1111.1F5, MTHFR
43homocysteine44 2410.1F5, MTHFR, F2
44vitamin b12449.0MTHFR, F5
45creatinine448.8F5, MTHFR, F2
46kininogen448.8HABP2, F5, F13A1, F2
47aspartate448.8F2, MTHFR, F5
48aspirin44 49 28 2411.5F5, MTHFR, F13A1, F2
49estrogen448.4F5, MTHFR, F13A1, F2
50fibrinogen448.0F2, F13A1, MTHFR, F5, HABP2

GO Terms for genes affiliated with Prothrombin-Related Thrombophilia

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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:0025769.3F13A1, F5
2blood circulationGO:0080159.0MTHFR, F5
3platelet activationGO:0301688.9F2, F13A1, F5
4blood coagulationGO:0075968.6F5, F13A1, F2

Products for genes affiliated with Prothrombin-Related Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prothrombin-Related 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet