MCID: FCT013
MIFTS: 33

Factor V Leiden Thrombophilia malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Factor V Leiden Thrombophilia

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44NIH Rare Diseases, 35MedlinePlus, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Factor v leiden thrombophilia is an inheritedĀ disorder that results in an increased risk of developing abnormal blood clots. factor v leiden is the name of a specific gene mutation in the f5 gene. this gene plays a critical role in the normal formation of blood clots in response to an injury. people can inherit one or two copies of the factor v leiden gene mutation.Ā those who inherit one copy are called heterozygotes. people who inherit two copies of the mutation, one from each parent, are called homozygotes. having the factor v leiden mutation increases your risk for developing a clot in your legs called a deep venous thrombosis (dvt). it also increases your risk of developing a clot that travels through the bloodstream and lodges in the lungs, called a pulmonary embolism (pe). last updated: 6/29/2012

MalaCards: Factor V Leiden Thrombophilia, also known as hereditary resistance to activated protein c, is related to thromboembolism and venous thromboembolism. An important gene associated with Factor V Leiden Thrombophilia is F5 (coagulation factor V (proaccelerin, labile factor)). The drugs mesna and 6-aminocaproic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and skin.

MedlinePlus:35 Bleeding is the loss of blood. it can happen inside or outside the body. bleeding can be a reaction to a cut or other wound. it can also result from an injury to internal organs. there are many situations in which you might bleed. a bruise is bleeding under the skin. some strokes are caused by bleeding in the brain. other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. normally, when you bleed, your blood forms clots to stop the bleeding. severe bleeding may require first aid or a trip to the emergency room. if you have a bleeding disorder, your blood does not form clots normally.

GeneReviews summary for factor-v-leiden

Aliases & Classifications for Factor V Leiden Thrombophilia

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66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 46Novoseek, 35MedlinePlus, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Aliases & Descriptions:

factor v leiden thrombophilia 66 20 44 21 22
hereditary resistance to activated protein c 66 20 44 22
apc resistance, leiden type 66 44 22
factor v leiden mutation 20 63
bleeding disorders 66 35
bleeding 46 35
thrombophilia due to deficiency of cofactor for activated protein c, leiden type 66
thrombophilia due to activated protein c resistance 63
activated protein c resistance 63
hemorrhage 63


Related Diseases for Factor V Leiden Thrombophilia

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Factor V Leiden Thrombophilia:



Diseases related to factor v leiden thrombophilia

Symptoms for Factor V Leiden Thrombophilia

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Drugs & Therapeutics for Factor V Leiden Thrombophilia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Factor V Leiden Thrombophilia

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21GeneTests
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Genetic tests related to Factor V Leiden Thrombophilia:

id Genetic test Affiliating Genes
1 Factor V Leiden Thrombophilia21 F5

Anatomical Context for Factor V Leiden Thrombophilia

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34MalaCards
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MalaCards organs/tissues related to Factor V Leiden Thrombophilia:

34
Brain, Lung, Skin

Animal Models for Factor V Leiden Thrombophilia or affiliated genes

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Publications for Factor V Leiden Thrombophilia

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53PubMed
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Articles related to Factor V Leiden Thrombophilia:

idTitleAuthorsYear
1
Factor V leiden thrombophilia in a female collegiate soccer athlete: a case report. (23675803)
2013
2
Factor V Leiden thrombophilia. (21116184)
2011
3
Factor V Leiden thrombophilia: presentation of three patients and a literature review. (19610561)
2006
4
Factor V Leiden Thrombophilia (20301542)
1993

Variations for Factor V Leiden Thrombophilia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Factor V Leiden Thrombophilia:

1
id Gene Name Type Significance SNP ID Assembly Location
1F5NM_000130.4(F5): c.1001G> C (p.Arg334Thr)single nucleotide variantPathogenicrs118203906GRCh37Chr 1, 169524537: 169524537
2F5NM_000130.4(F5): c.439G> T (p.Glu147Ter)single nucleotide variantPathogenicrs118203912GRCh37Chr 1, 169529939: 169529939
3F5NM_000130.4(F5): c.1160T> C (p.Ile387Thr)single nucleotide variantPathogenicrs118203911GRCh37Chr 1, 169521931: 169521931

Expression for genes affiliated with Factor V Leiden Thrombophilia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor V Leiden Thrombophilia

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Pathways for genes affiliated with Factor V Leiden Thrombophilia

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Compounds for genes affiliated with Factor V Leiden Thrombophilia

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GO Terms for genes affiliated with Factor V Leiden Thrombophilia

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Products for genes affiliated with Factor V Leiden Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor V Leiden Thrombophilia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet