MCID: FCT013
MIFTS: 27

Factor V Leiden Thrombophilia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Factor V Leiden Thrombophilia

MalaCards integrated aliases for Factor V Leiden Thrombophilia:

Name: Factor V Leiden Thrombophilia 77 25 54 26
Hereditary Resistance to Activated Protein C 25 54 26 30
Apc Resistance, Leiden Type 54 26
Thrombophilia Due to Activated Protein C Resistance 74

Characteristics:

GeneReviews:

25
Penetrance See clinical description...

Classifications:



External Ids:

UMLS 74 C1861171

Summaries for Factor V Leiden Thrombophilia

NIH Rare Diseases : 54 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 genemutation 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.

MalaCards based summary : Factor V Leiden Thrombophilia, also known as hereditary resistance to activated protein c, is related to thrombophilia due to activated protein c resistance and thrombophilia. An important gene associated with Factor V Leiden Thrombophilia is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include lung and heart.

Genetics Home Reference : 26 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.

Wikipedia : 77 Factor V Leiden (rs6025) is a variant (mutated form) of human factor V (one of several substances that... 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 top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 32.7 F2 F5
2 thrombophilia 30.6 F2 F5
3 thrombosis 30.2 F2 F5
4 thrombophilia due to thrombin defect 29.7 F2 F5
5 legg-calve-perthes disease 10.1
6 buerger disease 10.1
7 kienbock's disease 10.1
8 paracetamol poisoning 9.9 F2 F5
9 spinal cord infarction 9.9 F2 F5
10 sudden sensorineural hearing loss 9.9 F2 F5
11 cerebral sinovenous thrombosis 9.9 F2 F5
12 hemoglobin e disease 9.9 F2 F5
13 prothrombin deficiency, congenital 9.9 F2 F5
14 sagittal sinus thrombosis 9.9 F2 F5
15 cryptogenic cirrhosis 9.9 F2 F5
16 ischemic colitis 9.9 F2 F5
17 factor viii deficiency 9.9 F2 F5
18 porencephaly 9.9 F2 F5
19 retinal vascular occlusion 9.9 F2 F5
20 thrombophlebitis 9.9 F2 F5
21 antithrombin iii deficiency 9.9 F2 F5
22 post-thrombotic syndrome 9.9 F2 F5
23 peripheral vertigo 9.9 F2 F5
24 central retinal vein occlusion 9.9 F2 F5
25 retinal vein occlusion 9.9 F2 F5
26 blood protein disease 9.9 F2 F5
27 retinal artery occlusion 9.9 F2 F5
28 portal vein thrombosis 9.9 F2 F5
29 pulmonary artery disease 9.9 F2 F5
30 dysfibrinogenemia 9.9 F2 F5
31 arteritic anterior ischemic optic neuropathy 9.9 F2 F5
32 ischemic optic neuropathy 9.9 F2 F5
33 protein s deficiency 9.9 F2 F5
34 acute liver failure 9.9 F2 F5
35 placental abruption 9.9 F2 F5
36 thrombasthenia 9.9 F2 F5
37 protein c deficiency 9.9 F2 F5
38 vein disease 9.9 F2 F5
39 intracranial hypertension 9.9 F2 F5
40 blood coagulation disease 9.9 F2 F5
41 factor x deficiency 9.9 F2 F5
42 nonarteritic anterior ischemic optic neuropathy 9.9 F2 F5
43 afibrinogenemia 9.9 F2 F5
44 factor v deficiency 9.9 F2 F5
45 von willebrand's disease 9.9 F2 F5
46 disseminated intravascular coagulation 9.9 F2 F5
47 budd-chiari syndrome 9.8 F2 F5
48 homocysteinemia 9.8 F2 F5
49 varicose veins 9.8 F2 F5
50 antiphospholipid syndrome 9.8 F2 F5

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

Genetic tests related to Factor V Leiden Thrombophilia:

# Genetic test Affiliating Genes
1 Hereditary Resistance to Activated Protein C 30

Anatomical Context for Factor V Leiden Thrombophilia

MalaCards organs/tissues related to Factor V Leiden Thrombophilia:

42
Lung, Heart

Publications for Factor V Leiden Thrombophilia

Articles related to Factor V Leiden Thrombophilia:

(show all 12)
# Title Authors Year
1
Homozygous Factor V Leiden Thrombophilia in a Patient With Histologically Confirmed Thromboangiitis Obliterans. ( 30792584 )
2019
2
A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia. ( 30363672 )
2018
3
Bilateral Legg-Calve-Perthes Disease and Kienbock's Disease in a Child With Factor V Leiden Thrombophilia: A Case Report. ( 27698645 )
2016
4
Factor V leiden thrombophilia in a female collegiate soccer athlete: a case report. ( 23675803 )
2013
5
Factor V Leiden thrombophilia. ( 21116184 )
2011
6
Factor V Leiden thrombophilia: presentation of three patients and a literature review. ( 19610561 )
2006
7
Progressive gangrene of the hand following extravasation of antibiotics associated with hereditary resistance to activated protein C. ( 9718155 )
1998
8
Homozygous hereditary resistance to activated protein C presenting as cerebral venous thrombosis. ( 17895036 )
1997
9
Hereditary resistance to activated protein C: an uncommon risk factor for thromboembolic disease in lupus patients with antiphospholipid antibodies. ( 9324029 )
1997
10
Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C. ( 7493138 )
1995
11
Predisposition to thrombosis by a factor V mutation causing hereditary resistance to activated protein C. ( 7785262 )
1995
12
Factor V Leiden Thrombophilia ( 20301542 )
1993

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

Cellular components related to Factor V Leiden Thrombophilia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.62 F2 F5

Biological processes related to Factor V Leiden Thrombophilia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.26 F2 F5
2 ER to Golgi vesicle-mediated transport GO:0006888 9.16 F2 F5
3 blood coagulation GO:0007596 8.96 F2 F5
4 hemostasis GO:0007599 8.62 F2 F5

Sources for Factor V Leiden Thrombophilia

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11 DGIdb
17 EFO
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35 ICD10 via Orphanet
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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