MCID: PRT045
MIFTS: 24

Prothrombin-Related Thrombophilia malady

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

Aliases & Classifications for Prothrombin-Related Thrombophilia

Aliases & Descriptions for Prothrombin-Related Thrombophilia:

Name: Prothrombin-Related Thrombophilia 23 50 24
Prothrombin G20210a Thrombophilia 23 50 24 25
Prothrombin Thrombophilia 23 50 24 25
Factor Ii-Related Thrombophilia 23 50 24
Hyperprothrombinemia 50 25 69
Prothrombin 20210g>a Thrombophilia 50 24
F2-Related Thrombophilia 23 24
Prothrombin 20210g a Thrombophilia 23

Classifications:



Summaries for Prothrombin-Related Thrombophilia

NIH Rare Diseases : 50 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/superpathways are Folate Metabolism and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include lung, and related phenotype is 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: NBK1148

Related Diseases for Prothrombin-Related Thrombophilia

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)
id Related Disease Score Top Affiliating Genes
1 vascular erectile tumor 10.1 F2 MTHFR
2 porphyria 10.1 F2 MTHFR
3 lubinsky syndrome 10.1 F2 MTHFR
4 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F2 MTHFR
5 mixed epithelial tumor of ovary 10.1 F2 MTHFR
6 left-right axis malformations 10.1 F2 MTHFR
7 photosensitive epilepsy 10.1 F2 MTHFR
8 spinal cord lipoma 10.1 F2 MTHFR
9 bullous skin disease 10.1 F2 MTHFR
10 glutathionuria 10.1 F2 MTHFR
11 lynch syndrome 10.1 F2 MTHFR
12 ductal carcinoma in situ 10.1 F2 MTHFR
13 cryptosporidiosis 10.1 F2 MTHFR
14 angular blepharoconjunctivitis 10.1 F2 MTHFR
15 houlston ironton temple syndrome 10.1 F2 MTHFR
16 blepharoconjunctivitis 10.1 F2 MTHFR
17 dysgammaglobulinemia 10.1 F2 MTHFR
18 villous adenoma 10.1 F2 MTHFR
19 ophthalmia neonatorum 10.1 F2 MTHFR
20 vaginal discharge 10.1 F2 MTHFR
21 alpha-2-plasmin inhibitor deficiency 10.1 F2 MTHFR
22 central retinal artery occlusion 10.1 F2 MTHFR
23 capillary hemangioma 10.1 F2 MTHFR
24 alcoholic gastritis 10.1 F2 MTHFR
25 scar contracture 10.1 F2 MTHFR
26 uterine corpus cancer 10.1 F2 MTHFR
27 pregnancy loss, recurrent 1 10.1 F2 MTHFR
28 thrombophilia due to activated protein c resistance 10.1 F2 MTHFR
29 pancreas adenocarcinoma 10.1 F2 MTHFR
30 eagle syndrome 10.1 F13A1 F2
31 ocular hyperemia 10.1 F2 MTHFR
32 sertoli-leydig cell tumor 10.0 F2 MTHFR
33 leukocyte disease 10.0 F2 MTHFR
34 childhood type dermatomyositis 10.0 F2 MTHFR
35 bone development disease 10.0 F2 MTHFR
36 obstructive jaundice 10.0 F2 MTHFR
37 giant papillary conjunctivitis 10.0 F2 MTHFR
38 acute proliferative glomerulonephritis 10.0 F2 MTHFR
39 pyrimidine metabolic disorder 10.0 F2 MTHFR
40 intra-abdominal lymph node mast cell malignancy 9.9 HABP2 MTHFR
41 cervix small cell carcinoma 9.9 F2 MTHFR
42 neutrophil immunodeficiency syndrome 9.9 F13A1 HABP2
43 dentine erosion 9.9 F13A1 F2 MTHFR
44 thrombophilia 9.9
45 budd-chiari syndrome 9.8 F2 MTHFR
46 myocardial infarction 9.8 F13A1 F2 MTHFR
47 scn8a-related epilepsy with encephalopathy 9.6 F13A1 F2 HABP2 MTHFR
48 immunodeficiency, common variable, 6 9.6 F13A1 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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.32 MTHFR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.32 HABP2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.32 HABP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.32 MTHFR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.32 HABP2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.32 MTHFR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.32 HABP2 MTHFR
8 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.32 MTHFR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.32 MTHFR

Drugs & Therapeutics for Prothrombin-Related Thrombophilia

Search Clinical Trials , NIH Clinical Center for Prothrombin-Related Thrombophilia

Genetic Tests for Prothrombin-Related Thrombophilia

Genetic tests related to Prothrombin-Related Thrombophilia:

id Genetic test Affiliating Genes
1 Prothrombin-Related Thrombophilia 24 F2

Anatomical Context for Prothrombin-Related Thrombophilia

MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

39
Lung

Publications for Prothrombin-Related Thrombophilia

Articles related to Prothrombin-Related Thrombophilia:

id Title Authors Year
1
Prothrombin-Related Thrombophilia ( 20301327 )
1993

Variations for Prothrombin-Related Thrombophilia

Expression for Prothrombin-Related Thrombophilia

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

Pathways for Prothrombin-Related Thrombophilia

GO Terms for Prothrombin-Related Thrombophilia

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

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 8.62 F13A1 F2

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 8.96 F13A1 F2
2 hemostasis GO:0007599 8.62 F13A1 F2

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

id Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 8.62 F2 HABP2

Sources for Prothrombin-Related Thrombophilia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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