MCID: FCT013
MIFTS: 33

Factor V Leiden Thrombophilia malady

Genetic diseases, Rare diseases, Blood diseases categories
Download this MalaCard

Summaries for Factor V Leiden Thrombophilia

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 Factor v leiden thrombophilia is an inherited 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. 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.

Genetics Home Reference:21 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.

MedlinePlus:34 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

About this section
Sources:
65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 45Novoseek, 34MedlinePlus, 62UMLS
See all sources

Classifications:

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


Aliases & Descriptions:

factor v leiden thrombophilia 65 19 43 20 21
hereditary resistance to activated protein c 65 19 43 21
apc resistance, leiden type 65 43 21
factor v leiden mutation 19 62
bleeding disorders 65 34
bleeding 45 34
thrombophilia due to deficiency of cofactor for activated protein c, leiden type 65
thrombophilia due to activated protein c resistance 62
activated protein c resistance 62
hemorrhage 62


Related Diseases for Factor V Leiden Thrombophilia

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Factor V Leiden Thrombophilia

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Factor V Leiden Thrombophilia

Search NIH Clinical Center for Factor V Leiden Thrombophilia

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Factor V Leiden Thrombophilia

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Factor V Leiden Thrombophilia:

id Genetic test Affiliating Genes
1 Factor V Leiden Thrombophilia20 F5

Anatomical Context for Factor V Leiden Thrombophilia

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Factor V Leiden Thrombophilia:

33
Brain, Lung, Skin

Animal Models for Factor V Leiden Thrombophilia or affiliated genes

About this section

Publications for Factor V Leiden Thrombophilia

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Factor V Leiden Thrombophilia

Search GEO for disease gene expression data for Factor V Leiden Thrombophilia.

Pathways for genes affiliated with Factor V Leiden Thrombophilia

About this section

Compounds for genes affiliated with Factor V Leiden Thrombophilia

About this section

GO Terms for genes affiliated with Factor V Leiden Thrombophilia

About this section

Products for genes affiliated with Factor V Leiden Thrombophilia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor V Leiden Thrombophilia

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet