MCID: FCT013
MIFTS: 27

Factor V Leiden Thrombophilia

Categories: Blood diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Factor V Leiden Thrombophilia

MalaCards integrated aliases for Factor V Leiden Thrombophilia:

Name: Factor V Leiden Thrombophilia 24 19 42 75
Hereditary Resistance to Activated Protein C 24 42 5
Thrombophilia Due to Activated Protein C Resistance 71
Apc Resistance, Leiden Type 42

Characteristics:


GeneReviews:

24
Penetrance See clinical description.

Classifications:



External Ids:

UMLS 71 C1861171

Summaries for Factor V Leiden Thrombophilia

MedlinePlus Genetics: 42 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, liver and brain.

Wikipedia: 75 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 30)
# Related Disease Score Top Affiliating Genes
1 factor v deficiency 11.5
2 thrombophilia 10.7
3 thrombophilia due to thrombin defect 10.5
4 thrombophilia due to activated protein c resistance 10.3
5 osteonecrosis 10.3
6 pulmonary embolism 10.3
7 thrombosis 10.3
8 gastroesophageal reflux 10.1
9 legg-calve-perthes disease 10.1
10 pneumothorax, primary spontaneous 10.1
11 sarcoidosis 1 10.1
12 takayasu arteritis 10.1
13 buerger disease 10.1
14 sarcoidosis 2 10.1
15 chronic ulcer of skin 10.1
16 paroxysmal nocturnal hemoglobinuria 10.1
17 pre-eclampsia 10.1
18 adult respiratory distress syndrome 10.1
19 pneumothorax 10.1
20 pericarditis 10.1
21 myeloproliferative neoplasm 10.1
22 hemoglobinuria 10.1
23 cerebrovascular disease 10.1
24 vasculitis 10.1
25 placental abruption 10.1
26 kienbock's disease 10.1
27 osteonecrosis of the jaw 10.1
28 hemiplegia 10.1
29 vitamin k deficiency bleeding 10.1
30 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Assessment of the Prevalence of Major Psychiatric Disorders in a Cohort of Women With Clinical Criteria Corresponding to Pure, Abortive-form, Obstetrical, Antiphospholipid Syndrome Completed NCT02833194

Search NIH Clinical Center for Factor V Leiden Thrombophilia

Genetic Tests for Factor V Leiden Thrombophilia

Anatomical Context for Factor V Leiden Thrombophilia

Organs/tissues related to Factor V Leiden Thrombophilia:

MalaCards : Placenta, Liver, Brain, Whole Blood, Breast, Kidney, Heart

Publications for Factor V Leiden Thrombophilia

Articles related to Factor V Leiden Thrombophilia:

(show top 50) (show all 192)
# Title Authors PMID Year
1
Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. 24 5
14996674 2004
2
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
3
Phenotypic Heterogeneity in Patients with Homozygous Prothrombin 20210AA Genotype. A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. 5
16931580 2006
4
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 5
16493002 2006
5
R255h amino acid substitution of protein Z identified in patients with factor V Leiden mutation. 5
15638861 2005
6
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 5
15534175 2004
7
Functional characterization of factor V-Ile359Thr: a novel mutation associated with thrombosis. 5
14695241 2004
8
Factor V I359T: a novel mutation associated with thrombosis and resistance to activated protein C. 5
14617013 2003
9
Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. 5
12421138 2002
10
Improved hemoglobin status and reduced menstrual blood loss among female carriers of factor V Leiden--an evolutionary advantage? 5
11686338 2001
11
Mutations in coagulation factors in women with unexplained late fetal loss. 5
11018168 2000
12
Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. 5
10666427 2000
13
Double-homozygosity for factor V Leiden and the prothrombin gene G20210A variant in a young patient with idiopathic venous thrombosis. 5
10507841 1999
14
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 5
10477778 1999
15
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford. 5
10494770 1999
16
Homozygous factor V Leiden mutation in a child with Budd-Chiari syndrome. 5
10328130 1999
17
Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 5
10348711 1999
18
Budd-Chiari syndrome, portal vein and mesenteric vein thrombosis in a patient homozygous for factor V Leiden mutation treated by TIPS and thrombolysis. 5
9734642 1998
19
Factor V Cambridge: a new mutation (Arg306-->Thr) associated with resistance to activated protein C. 5
9454742 1998
20
Case-control study of risk of cerebral sinus thrombosis in oral contraceptive users and in [correction of who are] carriers of hereditary prothrombotic conditions. The Cerebral Venous Sinus Thrombosis Study Group. 5
9518910 1998
21
A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. 5
9454741 1998
22
Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss--a possible evolutionary selection mechanism. 5
9459326 1998
23
Prevalence of the factor V-Leiden mutation in four distinct American ethnic populations. 5
9415695 1997
24
Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations. 5
9372726 1997
25
The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey. 5
9339109 1997
26
Prevalence of the factor V Leiden mutation in hepatic and portal vein thrombosis. 5
9245936 1997
27
Inherited prethrombotic disorders and infectious purpura. 5
8822583 1996
28
HELLP syndrome associated with factor V R506Q mutation. 5
8616100 1996
29
Population study of the G1691A mutation (R506Q, FV Leiden) in the human factor V gene that is associated with resistance to activated protein C. 5
8566967 1996
30
Factor V Leiden and risks of recurrent idiopathic venous thromboembolism. 5
7586244 1995
31
Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. 5
7877648 1995
32
High prevalence of a mutation in the factor V gene within the U.K. population: relationship to activated protein C resistance and familial thrombosis. 5
7803250 1994
33
Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. 5
8049422 1994
34
Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. 5
7911872 1994
35
Mutation in blood coagulation factor V associated with resistance to activated protein C. 5
8164741 1994
36
Activated protein C resistance caused by Arg506Gln mutation in factor Va. 5
7910348 1994
37
Human genetics. Bad blood by mutation. 5
8164730 1994
38
Inherited Thrombophilia in Pediatric Venous Thromboembolic Disease: Why and Who to Test. 24
28352625 2017
39
Diagnosis and management of factor V Leiden. 24
27797270 2016
40
Progestin-only contraception and thromboembolism: A systematic review. 24
27153743 2016
41
Hereditary risk factors for thrombophilia and probability of venous thromboembolism during pregnancy and the puerperium. 24
27613196 2016
42
Factor V Leiden, prothrombin G20210A, and methylene tetrahydrofolate reductase mutations and stillbirth: the Stillbirth Collaborative Research Network. 24
27131585 2016
43
Thrombophilic risk of individuals with rare compound factor V Leiden and prothrombin G20210A polymorphisms: an international case series of 100 individuals. 24
26773706 2016
44
Association of thrombophilia and catheter-associated thrombosis in children: a systematic review and meta-analysis. 24
27306795 2016
45
Genetic risk factors for venous thrombosis in the elderly in a case-control study. 24
27377285 2016
46
Risk of venous thrombosis in persons with increased body mass index and interactions with other genetic and acquired risk factors. 24
27214710 2016
47
Combined oral contraceptives, thrombophilia and the risk of venous thromboembolism: a systematic review and meta-analysis. 24
27121914 2016
48
Do incident and recurrent venous thromboembolism risks truly differ between heterozygous and homozygous Factor V Leiden carriers? A retrospective cohort study. 24
26970916 2016
49
Duration of oral contraceptive use and the risk of venous thromboembolism. A case-control study. 24
27043069 2016
50
Hypercoagulability in Kidney Transplant Recipients. 24
26413991 2016

Variations for Factor V Leiden Thrombophilia

ClinVar genetic disease variations for Factor V Leiden Thrombophilia:

5 (show top 50) (show all 185)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F5 NM_000130.5(F5):c.439G>T (p.Glu147Ter) SNV Pathogenic
645 rs118203912 GRCh37: 1:169529939-169529939
GRCh38: 1:169560701-169560701
2 F5 NM_000130.5(F5):c.1160T>C (p.Ile387Thr) SNV Pathogenic
655 rs118203911 GRCh37: 1:169521931-169521931
GRCh38: 1:169552693-169552693
3 F5 NM_000130.5(F5):c.1001G>C (p.Arg334Thr) SNV Pathogenic
644 rs118203906 GRCh37: 1:169524537-169524537
GRCh38: 1:169555299-169555299
4 F5 NM_000130.4(F5):c.1601G>A (p.Arg534Gln) SNV Pathogenic
Pathogenic
642 rs6025 GRCh37: 1:169519049-169519049
GRCh38: 1:169549811-169549811
5 F5 NM_000130.5(F5):c.1128G>T (p.Arg376Ser) SNV Uncertain Significance
627209 rs373172802 GRCh37: 1:169521963-169521963
GRCh38: 1:169552725-169552725
6 F5 NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) SNV Uncertain Significance
876694 rs141977229 GRCh37: 1:169497306-169497306
GRCh38: 1:169528068-169528068
7 F5 NM_000130.5(F5):c.5265A>G (p.Ile1755Met) SNV Uncertain Significance
Uncertain Significance
579171 rs41272455 GRCh37: 1:169499000-169499000
GRCh38: 1:169529762-169529762
8 F5 NM_000130.5(F5):c.1777G>T (p.Val593Leu) SNV Uncertain Significance
1703831 GRCh37: 1:169513732-169513732
GRCh38: 1:169544494-169544494
9 F5 NM_000130.4(F5):c.-110C>A SNV Uncertain Significance
293647 rs886045552 GRCh37: 1:169555734-169555734
GRCh38: 1:169586496-169586496
10 F5 NM_000130.5(F5):c.5490G>A (p.Leu1830=) SNV Uncertain Significance
293582 rs149092241 GRCh37: 1:169497262-169497262
GRCh38: 1:169528024-169528024
11 F5 NM_000130.5(F5):c.2222A>G (p.Asn741Ser) SNV Uncertain Significance
293621 rs144979314 GRCh37: 1:169512106-169512106
GRCh38: 1:169542868-169542868
12 F5 NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) SNV Uncertain Significance
293597 rs200204656 GRCh37: 1:169509995-169509995
GRCh38: 1:169540757-169540757
13 F5 NM_000130.5(F5):c.4309A>T (p.Thr1437Ser) SNV Uncertain Significance
293598 rs115148599 GRCh37: 1:169510019-169510019
GRCh38: 1:169540781-169540781
14 F5 NM_000130.5(F5):c.2868T>C (p.Tyr956=) SNV Uncertain Significance
293617 rs149067268 GRCh37: 1:169511460-169511460
GRCh38: 1:169542222-169542222
15 F5 NM_000130.5(F5):c.1033C>T (p.Arg345Trp) SNV Uncertain Significance
874622 rs746260106 GRCh37: 1:169524505-169524505
GRCh38: 1:169555267-169555267
16 F5 NM_000130.5(F5):c.6360G>A (p.Lys2120=) SNV Uncertain Significance
293574 rs757104503 GRCh37: 1:169484850-169484850
GRCh38: 1:169515612-169515612
17 F5 NM_000130.5(F5):c.5419+11C>G SNV Uncertain Significance
Likely Benign
293585 rs6008 GRCh37: 1:169498835-169498835
GRCh38: 1:169529597-169529597
18 F5 NM_000130.5(F5):c.*363T>G SNV Uncertain Significance
293566 rs115882472 GRCh37: 1:169483188-169483188
GRCh38: 1:169513950-169513950
19 F5 NM_000130.5(F5):c.3211C>T (p.His1071Tyr) SNV Uncertain Significance
293614 rs146408488 GRCh37: 1:169511117-169511117
GRCh38: 1:169541879-169541879
20 F5 NM_000130.5(F5):c.5721T>C (p.Cys1907=) SNV Uncertain Significance
293578 rs886045543 GRCh37: 1:169494142-169494142
GRCh38: 1:169524904-169524904
21 F5 NM_000130.5(F5):c.*104A>C SNV Uncertain Significance
293570 rs886045540 GRCh37: 1:169483447-169483447
GRCh38: 1:169514209-169514209
22 F5 NM_000130.5(F5):c.4835A>T (p.Asp1612Val) SNV Uncertain Significance
293594 rs141589936 GRCh37: 1:169505880-169505880
GRCh38: 1:169536642-169536642
23 F5 NM_000130.5(F5):c.2864G>T (p.Ser955Ile) SNV Uncertain Significance
293618 rs199507543 GRCh37: 1:169511464-169511464
GRCh38: 1:169542226-169542226
24 F5 NM_000130.5(F5):c.936C>T (p.Thr312=) SNV Uncertain Significance
293633 rs758832130 GRCh37: 1:169525900-169525900
GRCh38: 1:169556662-169556662
25 F5 NM_000130.5(F5):c.5332G>C (p.Glu1778Gln) SNV Uncertain Significance
293586 rs886045544 GRCh37: 1:169498933-169498933
GRCh38: 1:169529695-169529695
26 F5 NM_000130.5(F5):c.738A>G (p.Thr246=) SNV Uncertain Significance
293636 rs375739973 GRCh37: 1:169526098-169526098
GRCh38: 1:169556860-169556860
27 F5 NM_000130.5(F5):c.886G>A (p.Ala296Thr) SNV Uncertain Significance
293634 rs748350385 GRCh37: 1:169525950-169525950
GRCh38: 1:169556712-169556712
28 F5 NM_000130.5(F5):c.6629A>T (p.Gln2210Leu) SNV Uncertain Significance
293571 rs886045541 GRCh37: 1:169483597-169483597
GRCh38: 1:169514359-169514359
29 F5 NM_000130.5(F5):c.*762G>A SNV Uncertain Significance
293558 rs753366128 GRCh37: 1:169482789-169482789
GRCh38: 1:169513551-169513551
30 F5 NM_000130.5(F5):c.*1290G>A SNV Uncertain Significance
293550 rs9332677 GRCh37: 1:169482261-169482261
GRCh38: 1:169513023-169513023
31 F5 NM_000130.5(F5):c.538G>A (p.Glu180Lys) SNV Uncertain Significance
293638 rs143152035 GRCh37: 1:169529840-169529840
GRCh38: 1:169560602-169560602
32 F5 NM_000130.5(F5):c.3455A>C (p.Glu1152Ala) SNV Uncertain Significance
293606 rs543751483 GRCh37: 1:169510873-169510873
GRCh38: 1:169541635-169541635
33 F5 NM_000130.5(F5):c.*2053G>C SNV Uncertain Significance
293542 rs886045534 GRCh37: 1:169481498-169481498
GRCh38: 1:169512260-169512260
34 F5 NM_000130.5(F5):c.*581C>A SNV Uncertain Significance
293560 rs180742904 GRCh37: 1:169482970-169482970
GRCh38: 1:169513732-169513732
35 F5 NM_000130.5(F5):c.4972-14A>C SNV Uncertain Significance
293592 rs763080313 GRCh37: 1:169500274-169500274
GRCh38: 1:169531036-169531036
36 F5 NM_000130.5(F5):c.5589C>A (p.Pro1863=) SNV Uncertain Significance
293579 rs148772659 GRCh37: 1:169497163-169497163
GRCh38: 1:169527925-169527925
37 F5 NM_000130.5(F5):c.1785G>A (p.Glu595=) SNV Uncertain Significance
293624 rs112333778 GRCh37: 1:169513724-169513724
GRCh38: 1:169544486-169544486
38 F5 NM_000130.5(F5):c.-84G>A SNV Uncertain Significance
293646 rs543172813 GRCh37: 1:169555708-169555708
GRCh38: 1:169586470-169586470
39 F5 NM_000130.5(F5):c.6164G>A (p.Arg2055Gln) SNV Uncertain Significance
293576 rs886045542 GRCh37: 1:169489787-169489787
GRCh38: 1:169520549-169520549
40 F5 NM_000130.5(F5):c.3261C>G (p.Pro1087=) SNV Uncertain Significance
293612 rs886045549 GRCh37: 1:169511067-169511067
GRCh38: 1:169541829-169541829
41 F5 NM_000130.5(F5):c.3949G>A (p.Gly1317Ser) SNV Uncertain Significance
293602 rs149048805 GRCh37: 1:169510379-169510379
GRCh38: 1:169541141-169541141
42 F5 NM_000130.5(F5):c.1545C>T (p.Ile515=) SNV Uncertain Significance
293627 rs886045551 GRCh37: 1:169519105-169519105
GRCh38: 1:169549867-169549867
43 F5 NM_000130.5(F5):c.-40T>C SNV Uncertain Significance
293645 rs41272465 GRCh37: 1:169555664-169555664
GRCh38: 1:169586426-169586426
44 F5 NM_000130.5(F5):c.*149C>G SNV Uncertain Significance
293569 rs534748300 GRCh37: 1:169483402-169483402
GRCh38: 1:169514164-169514164
45 F5 NM_000130.5(F5):c.1659G>A (p.Glu553=) SNV Uncertain Significance
293625 rs370739570 GRCh37: 1:169515783-169515783
GRCh38: 1:169546545-169546545
46 F5 NM_000130.5(F5):c.*838T>C SNV Uncertain Significance
293557 rs376103455 GRCh37: 1:169482713-169482713
GRCh38: 1:169513475-169513475
47 F5 NM_000130.5(F5):c.3255A>C (p.Thr1085=) SNV Uncertain Significance
293613 rs6006 GRCh37: 1:169511073-169511073
GRCh38: 1:169541835-169541835
48 F5 NM_000130.5(F5):c.3311C>A (p.Ser1104Tyr) SNV Uncertain Significance
293610 rs188882337 GRCh37: 1:169511017-169511017
GRCh38: 1:169541779-169541779
49 F5 NM_000130.5(F5):c.1624A>G (p.Ile542Val) SNV Uncertain Significance
293626 rs776949074 GRCh37: 1:169515818-169515818
GRCh38: 1:169546580-169546580
50 F5 NM_000130.5(F5):c.1300G>A (p.Val434Met) SNV Uncertain Significance
293630 rs574610215 GRCh37: 1:169519974-169519974
GRCh38: 1:169550736-169550736

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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