MCID: FCT013
MIFTS: 16

Factor V Leiden Thrombophilia

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Factor V Leiden Thrombophilia

MalaCards integrated aliases for Factor V Leiden Thrombophilia:

Name: Factor V Leiden Thrombophilia 76 24 53 25
Hereditary Resistance to Activated Protein C 24 53 25 29
Apc Resistance, Leiden Type 53 25
Thrombophilia Due to Activated Protein C Resistance 73

Characteristics:

GeneReviews:

24
Penetrance See clinical description...

Classifications:



External Ids:

UMLS 73 C1861171

Summaries for Factor V Leiden Thrombophilia

NIH Rare Diseases : 53 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.

Genetics Home Reference : 25 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 : 76 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 11.7
2 thrombophilia 10.3
3 thrombosis 10.0
4 legg-calve-perthes disease 9.9
5 kienbock's disease 9.9
6 thrombophilia due to thrombin defect 9.8
7 cerebritis 9.8

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 29

Anatomical Context for Factor V Leiden Thrombophilia

MalaCards organs/tissues related to Factor V Leiden Thrombophilia:

41
Lung

Publications for Factor V Leiden Thrombophilia

Articles related to Factor V Leiden Thrombophilia:

# Title Authors Year
1
Bilateral Legg-Calve-Perthes Disease and Kienbock's Disease in a Child With Factor V Leiden Thrombophilia: A Case Report. ( 27698645 )
2016
2
Factor V leiden thrombophilia in a female collegiate soccer athlete: a case report. ( 23675803 )
2013
3
Factor V Leiden thrombophilia. ( 21116184 )
2011
4
Factor V Leiden thrombophilia: presentation of three patients and a literature review. ( 19610561 )
2006
5
Homozygous hereditary resistance to activated protein C presenting as cerebral venous thrombosis. ( 17895036 )
1997
6
Molecular detection of a common mutation in coagulation factor V causing thrombosis via hereditary resistance to activated protein C. ( 7493138 )
1995
7
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

Sources for Factor V Leiden Thrombophilia

3 CDC
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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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