MCID: FCT013
MIFTS: 17

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. 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:

# Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 11.9
2 thrombophilia 10.5
3 thrombosis 10.2
4 legg-calve-perthes disease 10.1
5 buerger disease 10.1
6 kienbock's disease 10.1
7 thrombophilia due to thrombin defect 9.9

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 11)
# 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
Hereditary resistance to activated protein C: an uncommon risk factor for thromboembolic disease in lupus patients with antiphospholipid antibodies. ( 9324029 )
1997
9
Homozygous hereditary resistance to activated protein C presenting as cerebral venous thrombosis. ( 17895036 )
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

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

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