MCID: PRT045
MIFTS: 30

Prothrombin-Related Thrombophilia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Prothrombin-Related Thrombophilia

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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 based summary: Prothrombin-Related Thrombophilia, also known as prothrombin g20210a thrombophilia, is related to thrombophilia and homocysteinemia. An important gene associated with Prothrombin-Related Thrombophilia is F2 (coagulation factor II (thrombin)), and among its related pathways are Selenium Pathway and Collagen biosynthesis and modifying enzymes. The compounds warfarin and menadione have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotype reproductive system.

Genetics Home Reference:22 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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Prothrombin-Related Thrombophilia, Aliases & Descriptions:

Name: Prothrombin-Related Thrombophilia 20 42 21
Prothrombin G20210a Thrombophilia 20 42 22 61
Prothrombin Thrombophilia 20 42 22 61
Hyperprothrombinemia 42 22 61
 
Factor Ii-Related Thrombophilia 20 42
Prothrombin 20210g a Thrombophilia 20
Prothrombin 20210g>a Thrombophilia 42
F2-Related Thrombophilia 20


Classifications:

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


Related Diseases for Prothrombin-Related Thrombophilia

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



Diseases related to prothrombin-related thrombophilia

Symptoms for Prothrombin-Related Thrombophilia

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Drugs & Therapeutics for Prothrombin-Related Thrombophilia

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Drug clinical trials:

Search ClinicalTrials for Prothrombin-Related Thrombophilia

Search NIH Clinical Center for Prothrombin-Related Thrombophilia

Genetic Tests for Prothrombin-Related Thrombophilia

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Genetic tests related to Prothrombin-Related Thrombophilia:

id Genetic test Affiliating Genes
1 Prothrombin-Related Thrombophilia21 F2

Anatomical Context for Prothrombin-Related Thrombophilia

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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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MGI Mouse Phenotypes related to Prothrombin-Related Thrombophilia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.6MTHFR, F13A1, F2

Publications for Prothrombin-Related Thrombophilia

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Articles related to Prothrombin-Related Thrombophilia:

idTitleAuthorsYear
1
Prothrombin-Related Thrombophilia (20301327)
1993

Variations for Prothrombin-Related Thrombophilia

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Expression for genes affiliated with Prothrombin-Related Thrombophilia

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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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Pathways related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway37
9.4MTHFR, F2
2
Show member pathways
9.1F13A1, F2
3
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
9.1F13A1, F2
4
Show member pathways
9.1F13A1, F2

Compounds for genes affiliated with Prothrombin-Related Thrombophilia

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Sources:
44Novoseek, 50PharmGKB, 25HMDB, 12DrugBank, 29IUPHAR
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Compounds related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1warfarin44 50 25 1212.6MTHFR, F2
2menadione44 25 1211.5MTHFR, F2
3phosphatidylethanolamine44 1210.5F2, HABP2
4homocysteine44 2510.4F2, MTHFR
5heparinoids449.4F13A1, F2
6hyaluronic acid44 2510.2HABP2, F2
7methotrexate50 44 1211.1MTHFR, F2
8aspirin44 50 29 2511.8MTHFR, F13A1, F2
9serine448.8MTHFR, HABP2, F2
10kininogen448.8F13A1, HABP2, F2
11estrogen448.7MTHFR, F13A1, F2
12fibrinogen448.3MTHFR, F13A1, HABP2, F2
13heparin44 29 25 1211.2F2, HABP2, F13A1, MTHFR

GO Terms for genes affiliated with Prothrombin-Related Thrombophilia

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Cellular components related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.8F13A1, F2
2extracellular regionGO:0055768.5F13A1, HABP2, F2

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

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.1F13A1, F2

Molecular functions related to Prothrombin-Related Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.3HABP2, F2

Products for genes affiliated with Prothrombin-Related Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Prothrombin-Related Thrombophilia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet