MCID: FCT013
MIFTS: 35

Factor V Leiden Thrombophilia malady

Blood diseases category

Summaries for Factor V Leiden Thrombophilia

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Factor v leiden thrombophilia is an inherited disorder that results in an increased risk of developing abnormal blood clots. factor v leiden is the name of a specific gene mutation in the f5 gene. this gene plays a critical role in the normal formation of blood clots in response to an injury. people can inherit one or two copies of the factor v leiden gene mutation. those who inherit one copy are called heterozygotes. people who inherit two copies of the mutation, one from each parent, are called homozygotes. having the factor v leiden mutation increases your risk for developing a clot in your legs called a deep venous thrombosis (dvt). it also increases your risk of developing a clot that travels through the bloodstream and lodges in the lungs, called a pulmonary embolism (pe). last updated: 6/29/2012

MalaCards: Factor V Leiden Thrombophilia, also known as hereditary resistance to activated protein c, is related to peptic ulcer and portal vein thrombosis. An important gene associated with Factor V Leiden Thrombophilia is F5 (coagulation factor V (proaccelerin, labile factor)). The drugs mesna and 6-aminocaproic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and skin.

Genetics Home Reference:21 Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels.

MedlinePlus:33 Bleeding is the loss of blood. it can happen inside or outside the body. bleeding can be a reaction to a cut or other wound. it can also result from an injury to internal organs. there are many situations in which you might bleed. a bruise is bleeding under the skin. some strokes are caused by bleeding in the brain. other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. normally, when you bleed, your blood forms clots to stop the bleeding. severe bleeding may require first aid or a trip to the emergency room. if you have a bleeding disorder, your blood does not form clots normally.

GeneReviews summary for factor-v-leiden

Aliases & Classifications for Factor V Leiden Thrombophilia

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63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 33MedlinePlus, 60UMLS, 44Novoseek
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Classifications:

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Anatomical: Blood diseases


Aliases & Descriptions:

factor v leiden thrombophilia 63 19 42 20 21
hereditary resistance to activated protein c 63 19 42 21
apc resistance, leiden type 63 42 21
factor v leiden mutation 19 60
bleeding disorders 63 33
bleeding 44 33
thrombophilia due to deficiency of cofactor for activated protein c, leiden type 63
thrombophilia due to activated protein c resistance 60
activated protein c resistance 60
hemorrhage 60


Related Diseases for Factor V Leiden Thrombophilia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Factor V Leiden Thrombophilia:



Diseases related to factor v leiden thrombophilia

Clinical Features for Factor V Leiden Thrombophilia

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Drugs & Therapeutics for Factor V Leiden Thrombophilia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Factor V Leiden Thrombophilia

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20GeneTests
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Genetic tests related to Factor V Leiden Thrombophilia:

id Genetic test Affiliating Genes
1 Factor V Leiden Thrombophilia20 F5

Anatomical Context for Factor V Leiden Thrombophilia

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32MalaCards
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MalaCards organs/tissues related to Factor V Leiden Thrombophilia:

32
Brain, Lung, Skin, Heart

Animal Models for Factor V Leiden Thrombophilia or affiliated genes

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Publications for Factor V Leiden Thrombophilia

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50PubMed
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Articles related to Factor V Leiden Thrombophilia:

(show all 25)
idTitleAuthorsYear
1
Factor V leiden thrombophilia in a female collegiate soccer athlete: a case report. (23675803)
2013
2
Role of polymorphisms in factor V (FV Leiden), prothrombin, plasminogen activator inhibitor type-1 (PAI-1), methylenetetrahydrofolate reductase (MTHFR) and cystathionine I^-synthase (CBS) genes as risk factors for thrombophilias. (22512572)
2012
3
Factor V Leiden thrombophilia. (21116184)
2011
4
Association of resistance to activated protein with the presence of Leiden and Cambridge Factor V mutations in Mexican patients with primary thrombophilia. (20478113)
2010
5
Thrombophilia in cardiac surgery-patients with symptomatic factor V Leiden. (19040405)
2009
6
Ocular vascular thrombotic events: a diagnostic window to familial thrombophilia (compound factor V Leiden and prothrombin gene heterozygosity) and thrombosis. (18796459)
2009
7
The Factor V Leiden mutation is associated with a higher blood haemoglobin concentration in women below 50 of the MalmAP Thrombophilia Study (MATS). (19023521)
2009
8
Type and location of venous thromboembolism in patients with factor V Leiden or prothrombin G20210A and in those with no thrombophilia. (17067362)
2007
9
Factor V Leiden thrombophilia: presentation of three patients and a literature review. (19610561)
2006
10
Factor V Leiden mutation and other thrombophilia markers in childhood ischemic stroke. (15678277)
2005
11
Primary thrombophilia in Mexico IV: frequency of the Leiden, Cambridge, Hong Kong, Liverpool and HR2 haplotype polymorphisms in the factor V gene of a group of thrombophilic Mexican Mestizo patients. (15776863)
2004
12
Factor V Leiden in young patients with thrombophilia. (15530287)
2004
13
Mechanical prosthetic heart valve thrombosis despite optimal anticoagulation in a patient with congenital thrombophilia (factor V Leiden). (12643329)
2003
14
Thrombophilia in infancy: factor V Leiden and MTHFR or factor II double heterozygocity as a risk factor. (12637218)
2003
15
Changes in hemostasis system in patients with hereditary thrombophilia caused by mutation of blood coagulation factor V ( factor V Leiden)]. (11523408)
2001
16
Primary thrombophilia in Mexico. II. Factor V G1691A (Leiden), prothrombin G20210A, and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos. (11426488)
2001
17
Heritability of elevated factor VIII antigen levels in factor V Leiden families with thrombophilia. (10886197)
2000
18
Rapid multiplex analysis for the factor V Leiden and prothrombin G20210A mutations associated with hereditary thrombophilia. (9785636)
1998
19
Prevalence of factor V Leiden (APCR) and other inherited thrombophilias in young patients with myocardial infarction and normal coronary arteries. (9875108)
1998
20
Risk of recurrent venous thromboembolism in patients with the factor V Leiden (FVR506Q) mutation: effect of warfarin and prediction by precipitating factors. East Anglian Thrombophilia Study Group. (9531346)
1998
21
Clinical features of thrombophilia in families with gene defects in protein C or protein S combined with factor V Leiden. (9607123)
1998
22
Factor V Leiden and genetic defects of thrombophilia in childhood porencephaly. (9577282)
1998
23
Inherited Thrombophilia due to Factor V Leiden Mutation. (10096958)
1998
24
Multigenic thrombophilia: genetic anomaly of factor II and mutation of factor V Leiden. Study in a French family]. (9238178)
1997
25
Factor V Leiden Thrombophilia (20301542)
1993

Genetic Variations for Factor V Leiden Thrombophilia

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Expression for genes affiliated with Factor V Leiden Thrombophilia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor V Leiden Thrombophilia

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Pathways for genes affiliated with Factor V Leiden Thrombophilia

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Compounds for genes affiliated with Factor V Leiden Thrombophilia

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GO Terms for genes affiliated with Factor V Leiden Thrombophilia

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Products for genes affiliated with Factor V Leiden Thrombophilia

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Sources for Factor V Leiden 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