MCID: FCT013
MIFTS: 31

Factor V Leiden Thrombophilia malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories

Summaries for Factor V Leiden Thrombophilia

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NIH Rare Diseases:41 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 based summary: Factor V Leiden Thrombophilia, also known as hereditary resistance to activated protein c, is related to budd-chiari syndrome and retinitis. An important gene associated with Factor V Leiden Thrombophilia is F5 (coagulation factor V (proaccelerin, labile factor)). The drugs desmopressin and desmopressin acetate 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:32 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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Factor V Leiden Thrombophilia, Aliases & Descriptions:

Name: Factor V Leiden Thrombophilia 63 19 41 20 21
Hereditary Resistance to Activated Protein C 63 19 41 21
Apc Resistance, Leiden Type 63 41 21
Bleeding Disorders 63 32 3
Factor V Leiden Mutation 19 60
Bleeding 43 32
 
Thrombophilia Due to Deficiency of Cofactor for Activated Protein C, Leiden Type 63
Thrombophilia Due to Activated Protein C Resistance 60
Blood Coagulation Disorders 60
Bleeding Tendency 60
Hemorrhage 60


Classifications:

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


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ICD1025 D68.5

Related Diseases for Factor V Leiden Thrombophilia

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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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Drug clinical trials:

Search ClinicalTrials for Factor V Leiden Thrombophilia

Search NIH Clinical Center for Factor V Leiden Thrombophilia

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Factor V Leiden Thrombophilia

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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

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MalaCards organs/tissues related to Factor V Leiden Thrombophilia:

31
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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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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Clinvar genetic disease variations for Factor V Leiden Thrombophilia:

6
id Gene Variation 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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Search GEO for disease gene expression data for Factor V Leiden Thrombophilia.

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
  • Proteins
  • Kits and Assays

Sources for Factor V Leiden Thrombophilia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet