MCID: PRT045
MIFTS: 27

Prothrombin-Related Thrombophilia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Prothrombin-Related Thrombophilia

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Aliases & Descriptions for Prothrombin-Related Thrombophilia:

Name: Prothrombin-Related Thrombophilia 21 45 22
Prothrombin G20210a Thrombophilia 21 45 22 23
Prothrombin Thrombophilia 21 45 22 23
Factor Ii-Related Thrombophilia 21 45 22
 
Hyperprothrombinemia 45 23 65
Prothrombin 20210g>a Thrombophilia 45 22
F2-Related Thrombophilia 21 22
Prothrombin 20210g a Thrombophilia 21

Classifications:



External Ids:

UMLS65 C1867596

Summaries for Prothrombin-Related Thrombophilia

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NIH Rare Diseases:45 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 liver failure acute infantile. An important gene associated with Prothrombin-Related Thrombophilia is F2 (Coagulation Factor II, Thrombin), and among its related pathways are Selenium Pathway and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include lung, colon and liver.

Genetics Home Reference:23 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 NBK1148

Related Diseases for Prothrombin-Related Thrombophilia

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

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia30.3F2, MTHFR
2liver failure acute infantile10.2F2, MTHFR
3sugarman brachydactyly10.2F2, MTHFR
4pericardial mesothelioma10.2F2, MTHFR
5fissured tongue10.2F2, MTHFR
6sesame syndrome10.2F2, MTHFR
7pontocerebellar hypoplasia10.2F2, MTHFR
8diverticulitis of colon10.2F2, MTHFR
9maple bark strippers' lung10.2F2, MTHFR
10pre-malignant neoplasm10.2F2, MTHFR
11oral squamous cell carcinoma10.2F2, MTHFR
12eccrine sweat gland neoplasm10.2F2, MTHFR
13colonic pseudo-obstruction10.2F2, MTHFR
14homocystinuria due to cbs deficiency10.2F2, MTHFR
15vertebral artery insufficiency10.2F2, MTHFR
16heart cancer10.2F2, MTHFR
17thrombocytopenia cerebellar hypoplasia short stature10.2F2, MTHFR
18protein s deficiency10.2F2, MTHFR
19nutmeg liver10.2F2, MTHFR
20islet cell tumor10.2F2, MTHFR
21senile cataract10.2F2, MTHFR
22postcricoid region cancer10.2F2, MTHFR
23budd-chiari syndrome10.2F2, MTHFR
24thrombophilia due to activated protein c resistance10.1F2, MTHFR
25bernard-soulier syndrome, type a210.1F2, MTHFR
26retinitis pigmentosa10.1F2, MTHFR
27blood platelet disease10.1F13A1, F2
28capillariasis10.1F2, MTHFR
29hordeolum externum10.1F2, MTHFR
30chronic cholangitis10.1F2, MTHFR
31osteopetrosis10.1F2, MTHFR
32dysgnathia complex10.1F13A1, F2
33hepatic cystic hamartoma10.0F2, MTHFR
34adenocarcinoma10.0F2, MTHFR
35cervical squamous cell carcinoma10.0F2, MTHFR
36vaginal carcinosarcoma10.0F2, MTHFR
37idiopathic progressive polyneuropathy9.9F2, MTHFR
38angular blepharoconjunctivitis9.9F2, MTHFR
39pericardium disease9.8F2, MTHFR
40subclavian steal syndrome9.8HABP2, MTHFR
41basal ganglia calcification, idiopathic, 59.7F13A1, HABP2
42campylobacteriosis9.7F13A1, F2, MTHFR
43postpartum depression9.7F13A1, F2, MTHFR
44spleen cancer9.7F13A1, F2, MTHFR
45vitamin k deficiency hemorrhagic disease9.6F13A1, F2
46stroke, ischemic9.5F2, MTHFR
47myocardial infarction9.2F13A1, F2, MTHFR
48pulmonary fibrosis, familial8.9F13A1, F2, HABP2, MTHFR
49pregnancy loss, recurrent 28.9F13A1, F2, HABP2, MTHFR

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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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 Thrombophilia22 F2

Anatomical Context for Prothrombin-Related Thrombophilia

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MalaCards organs/tissues related to Prothrombin-Related Thrombophilia:

33
Lung, Colon, Liver, Spleen, Heart, Tongue

Animal Models for Prothrombin-Related Thrombophilia or affiliated genes

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MGI Mouse Phenotypes related to Prothrombin-Related Thrombophilia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.3F13A1, F2

Sources for Prothrombin-Related Thrombophilia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet