MCID: PRT045
MIFTS: 24

Prothrombin-Related Thrombophilia malady

Categories: Genetic diseases, Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Prothrombin-Related Thrombophilia

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Aliases & Descriptions for Prothrombin-Related Thrombophilia:

Name: Prothrombin-Related Thrombophilia 23 48 24
Prothrombin G20210a Thrombophilia 23 48 24 25
Prothrombin Thrombophilia 23 48 24 25
Factor Ii-Related Thrombophilia 23 48 24
 
Hyperprothrombinemia 48 25 68
Prothrombin 20210g>a Thrombophilia 48 24
F2-Related Thrombophilia 23 24
Prothrombin 20210g a Thrombophilia 23

Classifications:



Summaries for Prothrombin-Related Thrombophilia

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NIH Rare Diseases:48 Prothrombin thrombophilia is a genetic disorder of blood clotting. individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. those with prothrombin thrombophilia are at somewhat higher than average risk for a type of clot that typically occurs in the deep veins of the legs (deep venous thrombosis). there is additionally an increased risk of developing a clot that  lodges in the lungs (pulmonary embolism); however, most people with prothrombin thrombophilia never develop abnormal blood clots. 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. the treatment for this condition is dependent on whether a blood clot has occurred and if there are additional risk factors. in individuals with a history of one or more blood clots, blood thinning medications may be used. last updated: 5/22/2017

MalaCards based summary: Prothrombin-Related Thrombophilia, also known as prothrombin g20210a thrombophilia, is related to vascular erectile tumor and porphyria. An important gene associated with Prothrombin-Related Thrombophilia is F2 (Coagulation Factor II, Thrombin), and among its related pathways are Folate Metabolism and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include lung, and related mouse phenotype Increased shRNA abundance (Z-score > 2).

Genetics Home Reference:25 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 for NBK1148

Related Diseases for Prothrombin-Related Thrombophilia

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Diseases in the Thrombophilia family:

Thrombophilia Due to Activated Protein C Resistance Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Thrombin Defect Thrombophilia Due to Thrombomodulin Defect
prothrombin-related thrombophilia

Diseases related to Prothrombin-Related Thrombophilia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1vascular erectile tumor10.1F2, MTHFR
2porphyria10.1F2, MTHFR
3lubinsky syndrome10.1F2, MTHFR
4supraumbilical midabdominal raphe and facial cavernous hemangiomas10.1F2, MTHFR
5mixed epithelial tumor of ovary10.1F2, MTHFR
6left-right axis malformations10.1F2, MTHFR
7photosensitive epilepsy10.1F2, MTHFR
8spinal cord lipoma10.1F2, MTHFR
9bullous skin disease10.1F2, MTHFR
10glutathionuria10.1F2, MTHFR
11lynch syndrome10.1F2, MTHFR
12ductal carcinoma in situ10.1F2, MTHFR
13cryptosporidiosis10.1F2, MTHFR
14angular blepharoconjunctivitis10.1F2, MTHFR
15houlston ironton temple syndrome10.1F2, MTHFR
16blepharoconjunctivitis10.1F2, MTHFR
17dysgammaglobulinemia10.1F2, MTHFR
18villous adenoma10.1F2, MTHFR
19ophthalmia neonatorum10.1F2, MTHFR
20vaginal discharge10.1F2, MTHFR
21alpha-2-plasmin inhibitor deficiency10.1F2, MTHFR
22central retinal artery occlusion10.1F2, MTHFR
23capillary hemangioma10.1F2, MTHFR
24alcoholic gastritis10.1F2, MTHFR
25scar contracture10.1F2, MTHFR
26uterine corpus cancer10.1F2, MTHFR
27pregnancy loss, recurrent 110.1F2, MTHFR
28thrombophilia due to activated protein c resistance10.1F2, MTHFR
29pancreas adenocarcinoma10.1F2, MTHFR
30eagle syndrome10.1F13A1, F2
31ocular hyperemia10.1F2, MTHFR
32sertoli-leydig cell tumor10.0F2, MTHFR
33leukocyte disease10.0F2, MTHFR
34childhood type dermatomyositis10.0F2, MTHFR
35bone development disease10.0F2, MTHFR
36obstructive jaundice10.0F2, MTHFR
37giant papillary conjunctivitis10.0F2, MTHFR
38acute proliferative glomerulonephritis10.0F2, MTHFR
39pyrimidine metabolic disorder10.0F2, MTHFR
40intra-abdominal lymph node mast cell malignancy9.9HABP2, MTHFR
41cervix small cell carcinoma9.9F2, MTHFR
42neutrophil immunodeficiency syndrome9.9F13A1, HABP2
43dentine erosion9.9F13A1, F2, MTHFR
44thrombophilia9.9
45budd-chiari syndrome9.8F2, MTHFR
46myocardial infarction9.8F13A1, F2, MTHFR
47scn8a-related epilepsy with encephalopathy9.6F13A1, F2, HABP2, MTHFR
48immunodeficiency, common variable, 69.6F13A1, F2, HABP2, MTHFR

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



Diseases related to prothrombin-related thrombophilia

Symptoms & Phenotypes for Prothrombin-Related Thrombophilia

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GenomeRNAi Phenotypes related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.1HABP2, MTHFR

Drugs & Therapeutics for Prothrombin-Related Thrombophilia

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Interventional clinical trials:

Search ClinicalTrials, 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 Thrombophilia24 F2

Anatomical Context for Prothrombin-Related Thrombophilia

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MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

36
Lung

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

Pathways for genes affiliated with Prothrombin-Related Thrombophilia

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GO Terms for genes affiliated with Prothrombin-Related Thrombophilia

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Cellular components related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.3F13A1, F2

Biological processes related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.8F13A1, F2
2hemostasisGO:00075999.3F13A1, F2

Molecular functions related to Prothrombin-Related Thrombophilia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type peptidase activityGO:00082369.1F2, HABP2

Sources for Prothrombin-Related Thrombophilia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet