MCID: FCT013
MIFTS: 20

Factor V Leiden Thrombophilia

Categories: Blood diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Factor V Leiden Thrombophilia

MalaCards integrated aliases for Factor V Leiden Thrombophilia:

Name: Factor V Leiden Thrombophilia 73 25 20 43
Hereditary Resistance to Activated Protein C 25 20 43 29
Apc Resistance, Leiden Type 20 43
Thrombophilia Due to Activated Protein C Resistance 70

Characteristics:

GeneReviews:

25
Penetrance See clinical description.

Classifications:



External Ids:

UMLS 70 C1861171

Summaries for Factor V Leiden Thrombophilia

MedlinePlus Genetics : 43 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.People with factor V Leiden thrombophilia have a higher than average risk of developing a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the legs, although they can also occur in other parts of the body, including the brain, eyes, liver, and kidneys. Factor V Leiden thrombophilia also increases the risk that clots will break away from their original site and travel through the bloodstream. These clots can lodge in the lungs, where they are known as pulmonary emboli. Although factor V Leiden thrombophilia increases the risk of blood clots, only about 10 percent of individuals with the factor V Leiden mutation ever develop abnormal clots.The factor V Leiden mutation is associated with a slightly increased risk of pregnancy loss (miscarriage). Women with this mutation are two to three times more likely to have multiple (recurrent) miscarriages or a pregnancy loss during the second or third trimester. Some research suggests that the factor V Leiden mutation may also increase the risk of other complications during pregnancy, including pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). However, the association between the factor V Leiden mutation and these complications has not been confirmed. Most women with factor V Leiden thrombophilia have normal pregnancies.

MalaCards based summary : Factor V Leiden Thrombophilia, also known as hereditary resistance to activated protein c, is related to factor v deficiency and thrombophilia. An important gene associated with Factor V Leiden Thrombophilia is F5 (Coagulation Factor V). Affiliated tissues include placenta and skin.

GARD : 20 Factor V Leiden thrombophilia is a genetic disorder that makes it more likely for you to develop a blood clot sometime during your life. Still, it is estimated that 95% of people with factor V Leiden never develop a clot. When a clot does form, the clot most often occurs in your leg ( deep venous thrombosis or DVT) or lungs ( pulmonary embolism or PE). Factor V Leiden is the name of a specific gene mutation in the F5 gene. This gene plays a role in how your body forms blood clots after an injury. People can inherit one or two copies of the factor V Leiden gene mutation. This condition should not be confused with Factor V deficiency, an inherited bleeding disorder that can cause excessive bleeding following surgery or trauma.

Wikipedia : 73 Factor V Leiden (rs6025 or F5 p.R506Q) is a variant (mutated form) of human factor V (one of several... more...

GeneReviews: NBK1368

Related Diseases for Factor V Leiden Thrombophilia

Diseases related to Factor V Leiden Thrombophilia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 11.4
2 thrombophilia 10.7
3 thrombophilia due to thrombin defect 10.4
4 osteonecrosis 10.3
5 pulmonary embolism 10.3
6 gastroesophageal reflux 10.1
7 legg-calve-perthes disease 10.1
8 thrombophilia due to activated protein c resistance 10.1
9 buerger disease 10.1
10 chronic ulcer of skin 10.1
11 paroxysmal nocturnal hemoglobinuria 10.1
12 pre-eclampsia 10.1
13 pneumothorax 10.1
14 pericarditis 10.1
15 hemoglobinuria 10.1
16 vasculitis 10.1
17 placental abruption 10.1
18 kienbock's disease 10.1
19 osteonecrosis of the jaw 10.1
20 hemiplegia 10.1
21 papilledema 10.1

Graphical network of the top 20 diseases related to Factor V Leiden Thrombophilia:



Diseases related to Factor V Leiden Thrombophilia

Symptoms & Phenotypes for Factor V Leiden Thrombophilia

Drugs & Therapeutics for Factor V Leiden Thrombophilia

Search Clinical Trials , NIH Clinical Center for Factor V Leiden Thrombophilia

Genetic Tests for Factor V Leiden Thrombophilia

Genetic tests related to Factor V Leiden Thrombophilia:

# Genetic test Affiliating Genes
1 Hereditary Resistance to Activated Protein C 29

Anatomical Context for Factor V Leiden Thrombophilia

MalaCards organs/tissues related to Factor V Leiden Thrombophilia:

40
Placenta, Skin

Publications for Factor V Leiden Thrombophilia

Articles related to Factor V Leiden Thrombophilia:

(show top 50) (show all 156)
# Title Authors PMID Year
1
Inherited Thrombophilia in Pediatric Venous Thromboembolic Disease: Why and Who to Test. 25
28352625 2017
2
Diagnosis and management of factor V Leiden. 25
27797270 2016
3
Progestin-only contraception and thromboembolism: A systematic review. 25
27153743 2016
4
Hereditary risk factors for thrombophilia and probability of venous thromboembolism during pregnancy and the puerperium. 25
27613196 2016
5
Factor V Leiden, prothrombin G20210A, and methylene tetrahydrofolate reductase mutations and stillbirth: the Stillbirth Collaborative Research Network. 25
27131585 2016
6
Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals. 25
26773706 2016
7
Association of thrombophilia and catheter-associated thrombosis in children: a systematic review and meta-analysis. 25
27306795 2016
8
Genetic risk factors for venous thrombosis in the elderly in a case-control study. 25
27377285 2016
9
Risk of venous thrombosis in persons with increased body mass index and interactions with other genetic and acquired risk factors. 25
27214710 2016
10
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. 25
27121914 2016
11
Duration of oral contraceptive use and the risk of venous thromboembolism. A case-control study. 25
27043069 2016
12
Do incident and recurrent venous thromboembolism risks truly differ between heterozygous and homozygous Factor V Leiden carriers? A retrospective cohort study. 25
26970916 2016
13
Hypercoagulability in Kidney Transplant Recipients. 25
26413991 2016
14
A meta-analysis of low-molecular-weight heparin to prevent pregnancy loss in women with inherited thrombophilia. 25
26837697 2016
15
Lifetime Risk of Venous Thromboembolism in Two Cohort Studies. 25
26597668 2016
16
Antithrombotic Therapy for VTE Disease: CHEST Guideline and Expert Panel Report. 25
26867832 2016
17
Factor V Leiden. 25
26492443 2016
18
Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. 25
26780744 2016
19
Risk of venous thrombosis after arthroscopy of the knee: results from a large population-based case-control study. 25
25940206 2015
20
Risk Factors for Postoperative Venous Thromboembolism in Orthopaedic Spine Surgery, Hip Arthroplasty, and Knee Arthroplasty Patients. 25
26535599 2015
21
The Canadian Choosing Wisely campaign: the Canadian Hematology Society's top five tests and treatments. 25
25637447 2015
22
Thrombophilia: clinical-practical aspects. 25
25724822 2015
23
Manifestations and clinical impact of pediatric inherited thrombophilia. 25
25564402 2015
24
Factor V Leiden mutation and high FVIII are associated with an increased risk of VTE in women with breast cancer during adjuvant tamoxifen - results from a prospective, single center, case control study. 25
25592075 2015
25
Factor V Leiden mutation increases the risk for venous thromboembolism in cancer patients - results from the Vienna Cancer And Thrombosis Study (CATS). 25
25381723 2015
26
Activated protein C resistance testing for factor V Leiden. 25
25293789 2014
27
No impact of endogenous prothrombotic conditions on the risk of central venous line-related thrombotic events in children: results of the KIDCAT study (KIDs with Catheter Associated Thrombosis). 25
25131188 2014
28
Below-knee cast immobilization and the risk of venous thrombosis: results from a large population-based case-control study. 25
25040873 2014
29
Association of venous thromboembolism with hormonal contraception and thrombophilic genotypes. 25
25162263 2014
30
Hormone replacement therapy and venous thromboembolism. 25
24007716 2014
31
Antithrombotic treatment for pregnancy complications: which path for the journey to precision medicine? 25
24593333 2014
32
Sex, thrombosis and inherited thrombophilia. 25
24768093 2014
33
Inherited risk factors for venous thromboembolism. 25
24419261 2014
34
The relationship between factor V Leiden, prothrombin G20210A, and MTHFR mutations and the first major thrombotic episode in polycythemia vera and essential thrombocythemia. 25
23828072 2014
35
Lower risk of cardiovascular events in postmenopausal women taking oral estradiol compared with oral conjugated equine estrogens. 25
24081194 2014
36
The ASH Choosing Wisely® campaign: five hematologic tests and treatments to question. 25
24307720 2013
37
A novel factor V mutation causes a normal activated protein C ratio despite the presence of a heterozygous F5 R506Q (factor V Leiden) mutation. 25
23957718 2013
38
Testing for inherited thrombophilia and consequences for antithrombotic prophylaxis in patients with venous thromboembolism and their relatives. A review of the Guidelines from Scientific Societies and Working Groups. 25
23846575 2013
39
Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. 25
23900608 2013
40
Thrombosis in women: what are the knowledge gaps in 2013? 25
23809122 2013
41
ACOG committee opinion no. 556: Postmenopausal estrogen therapy: route of administration and risk of venous thromboembolism. 25
23635705 2013
42
Menopausal hormone therapy and primary prevention. 25
23318326 2013
43
The risk of venous thrombosis in women over 50 years old using oral contraception or postmenopausal hormone therapy. 25
23136837 2013
44
International clinical practice guidelines for the treatment and prophylaxis of venous thromboembolism in patients with cancer. 25
23217107 2013
45
Venous thromboembolism risk in relation to use of different types of postmenopausal hormone therapy in a large prospective study. 25
22963114 2012
46
Broadening the factor V Leiden paradox: pulmonary embolism and deep-vein thrombosis as 2 sides of the spectrum. 25
22496157 2012
47
Thrombophilias and adverse pregnancy outcomes: results from the Danish National Birth Cohort. 25
22578003 2012
48
Management of venous thromboembolic diseases and the role of thrombophilia testing: summary of NICE guidance. 25
22740565 2012
49
Venous thrombosis in users of non-oral hormonal contraception: follow-up study, Denmark 2001-10. 25
22577198 2012
50
Role of factor V Leiden or G20210A prothrombin mutation in patients with symptomatic pulmonary embolism and deep vein thrombosis: a meta-analysis of the literature. 25
22329698 2012

Variations for Factor V Leiden Thrombophilia

Expression for Factor V Leiden Thrombophilia

Search GEO for disease gene expression data for Factor V Leiden Thrombophilia.

Pathways for Factor V Leiden Thrombophilia

GO Terms for Factor V Leiden Thrombophilia

Sources for Factor V Leiden Thrombophilia

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
31 HPO
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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