MCID: FCT006
MIFTS: 63

Factor V Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Factor V Deficiency

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; bleeding under the skin; bleeding of the gums; and prolonged or excessive bleeding following surgery, trauma, or childbirth. Women with factor V deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.

MalaCards: Factor V Deficiency, also known as proaccelerin deficiency, is related to thrombophlebitis and cardiac tamponade. An important gene associated with Factor V Deficiency is F5 (coagulation factor V (proaccelerin, labile factor)), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Selenium Pathway. The compounds rfviii and brodifacoum have been mentioned in the context of this disorder. Affiliated tissues include testes, lung and placenta, and related mouse phenotypes are embryogenesis and cardiovascular system.

NIH Rare Diseases:43 Factor v deficiency is an inherited blood disorder that involves abnormal blood clotting (coagulation). this disorder is caused by the deficiency of a blood protein called factor v. the reduced amount of factor v leads to episodes of abnormal bleeding that range from mild to severe. factor v deficiency is inherited in an autosomal recessive manner, which means that both copies of the f5 gene in each cell have mutations. last updated: 7/22/2013

Wikipedia:65 Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as... more...

Description from OMIM:47 227400

Aliases & Classifications for Factor V Deficiency

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 62UMLS, 49Orphanet, 20GeneTests, 22GTR, 58SNOMED-CT, 35MeSH, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
proaccelerin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

factor v deficiency 8 9 43 21 47 10 62 20 22
proaccelerin deficiency 8 21 49
labile factor deficiency 8 21
parahemophilia 21 49
owren disease 21 49
hereditary hypoproaccelerinaemia 8
congenital factor v deficiency 49
deficiency, labile 8
owren's disease 21


External Ids:

Disease Ontology8 DOID:2216
OMIM47 227400
MeSH35 D005166
SNOMED-CT via Orphanet59 4320005, 88776002
ICD10 via Orphanet26 D68.2
UMLS via Orphanet63 C0015499

Related Diseases for Factor V Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Factor V Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 98)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophlebitis30.3F8
2cardiac tamponade30.2F8
3hemorrhagic disease30.2F9
4combined factor v and viii deficiency30.2F5, F8
5thrombocytopenia30.1F7, F5, F8, F9, F2, F3
6thromboembolism29.8F3, F9, F2, F8, F5, F7
7amyloidosis10.2
8hemophilia10.2
9purpura fulminans10.1F5
10central retinal vein occlusion10.1F5
11sagittal sinus thrombosis10.1F5
12homocysteinemia10.1F5
13glanzmann's thrombasthenia10.1F7
14coronary thrombosis10.1F3
15warfarin sensitivity10.1F9
16burns10.1
17pulmonary tuberculosis10.1
18hereditary spherocytosis10.1
19celiac disease10.1
20acquired immunodeficiency syndrome10.1
21bullous pemphigoid10.1
22kaposi's sarcoma10.1
23infertility10.1
24arteriovenous malformation10.1
25adenocarcinoma10.1
26arthritis10.1
27leukemia10.1
28rheumatoid arthritis10.1
29sarcoma10.1
30thalassemia10.1
31tuberculosis10.1
32ventricular septal defect10.1
33al amyloidosis10.1
34thrombophilia due to factor v leiden10.1
35factor xii deficiency10.1F3, F5
36factor v and factor viii, combined deficiency of10.0
37blood platelet disease10.0F8, F3
38stroke, ischemic10.0F5, F3
39thrombotic thrombocytopenic purpura, acquired10.0F3, F8
40protein s deficiency10.0F9, F5
41prothrombin deficiency10.0F2, F5
42blood protein disease10.0F2, F5
43antithrombin iii deficiency10.0F5, F2
44dysfibrinogenemia10.0F5, F2
45scott syndrome10.0F2, F5
46placental abruption10.0F2, F5
47vitamin k deficiency hemorrhagic disease10.0F8, F2
48hepatitis a10.0F2, F8
49acute myocardial infarction10.0F3, F7
50prion disease10.0F8, F3

Graphical network of the top 20 diseases related to Factor V Deficiency:



Diseases related to factor v deficiency

Symptoms for Factor V Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

227400

Clinical features from OMIM:

227400

Drugs & Therapeutics for Factor V Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Factor V Deficiency

Search NIH Clinical Center for Factor V Deficiency

Genetic Tests for Factor V Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Factor V Deficiency:

id Genetic test Affiliating Genes
1 Factor V Deficiency20 22 F5

Anatomical Context for Factor V Deficiency

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33MalaCards
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MalaCards organs/tissues related to Factor V Deficiency:

33
Testes, Lung, Placenta

Animal Models for Factor V Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Factor V Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.1F5, F3, F9, F2
2MP:00053857.3F2, F9, F3, F5, F7
3MP:00053767.1F7, F5, F8, F3, F9, F2
4MP:00107687.0F2, F9, F3, F8, F5, F7

Publications for Factor V Deficiency

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Sources:
52PubMed
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Articles related to Factor V Deficiency:

(show top 50)    (show all 159)
idTitleAuthorsYear
1
Successful delivery in patients with severe congenital factor V deficiency: a study of five homozygous patients. (23746195)
2013
2
Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation. (23616041)
2013
3
Use of pharmacokinetic modelling to individualize FFP dosing in factor V deficiency. (23173558)
2013
4
Parahemophilia: new insights into factor v deficiency. (23893775)
2013
5
Severe factor V deficiency in two brothers with different clinical presentations. (22758216)
2012
6
Extraction of four wisdom teeth in a patient with congenital factor V deficiency hemophilia. (21669355)
2011
7
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency. (21614419)
2011
8
Inherited and acquired factor V deficiency. (21245750)
2011
9
Successful mitral valve repair in a patient with factor V deficiency. (20695908)
2011
10
Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. (19861681)
2010
11
Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions. (20028426)
2010
12
Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency. (20664902)
2010
13
Advances in understanding the bleeding diathesis in factor V deficiency. (19438479)
2009
14
Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding. (19806267)
2009
15
Acquired haemophilia A associated with transitory and severe factor V deficiency during bullous pemphigoid: first report. (19277424)
2009
16
Treatment of massive cecal bleeding in a 28-Year-old patient with homozygous factor V deficiency with activated factor VII. (18322882)
2008
17
Severe factor V deficiency presenting with intracranial haemorrhage during gestation. (17610562)
2007
18
Successful pregnancy in a patient with factor V deficiency: case report and review of the literature. (16676084)
2006
19
Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain. (16420587)
2006
20
Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein. (15735820)
2005
21
Anesthetic management of coagulation factor V deficiency]. (16363299)
2005
22
Off-pump coronary artery bypass grafting in a patient with congenital factor V deficiency: report of a case. (15674496)
2005
23
High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review. (15735818)
2005
24
Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene. (14511309)
2003
25
Two novel factor V gene mutations associated with congenital coagulation factor V deficiency, study of one pedigree]. (12812650)
2003
26
Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein. (12393490)
2003
27
Molecular basis of quantitative factor V deficiency associated with factor V R2 haplotype. (12239164)
2002
28
Novel factor V C2-domain mutation (R2074H) in two families with factor V deficiency and bleeding. (11858490)
2002
29
Presurgical plasma exchange for severe factor V deficiency. (11309828)
2001
30
Concerns about the mutations identified in a case of familial coagulation factor V deficiency: factor V Stanford. (11154134)
2000
31
Activated protein C resistance assay performance: improvement by sample dilution with factor V-deficient plasma. (9593344)
1998
32
AL amyloidosis combined with acquired factor V deficiency. (9518420)
1998
33
Pseudo-homozygous activated protein C resistance due to coinheritance of heterozygous factor V Leiden mutation and type I factor V deficiency. Variable expression when analyzed by different activated protein C resistance functional assays. (9491268)
1997
34
Discrimination between normal wildtype and carriers of coagulation factor V Leiden mutation by the activated protein C resistance test in the presence of factor V deficient plasma. (9156566)
1997
35
Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. (8735145)
1996
36
IgA nephropathy associated with mild type-coagulation factor V deficiency in father and son. (8529306)
1995
37
A partial factor V deficiency in anticoagulated lyophilized plasmas has been identified as a cause of the international normalized ratio discrepancy in the external quality assessment scheme. (7631309)
1995
38
Redo cardiac surgery: late bleeding complications from topical thrombin-induced factor V deficiency. (8429648)
1993
39
Thalamic stroke and congenital factor V deficiency. (1962338)
1991
40
Factor V deficiency--parahaemophilia. (3802307)
1986
41
Transfusion induced acquired immunodeficiency syndrome (AIDS) with Kaposi's sarcoma in a patient with congenital factor V deficiency. (6242702)
1984-1985
42
Management of labor in a patient with factor V deficiency. (7107207)
1982
43
A family with factor V deficiency (parahaemophilia). (934407)
1976
44
The localization of factor V within normal human platelets and the demonstration of a platelet-factor V antigen in congenital factor V deficiency. (1103945)
1975
45
Severe factor V deficiency with prolonged bleeding time. (4450205)
1974
46
Platelet function studies in factor V deficiency. (4628208)
1972
47
Parahemophilia. Factor V deficiency. (4550185)
1972
48
The treatment of patients with factor-V deficiency. (16955967)
1965
49
The hemostatic effect of normal platelets in hemophilia and factor V deficiency. The importance of clotting factors adsorbed on platelets for normal hemostasis. (13871204)
1961
50
Hereditary labile factor (factor V) deficiency. (13702009)
1961

Variations for Factor V Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Factor V Deficiency:

64
id Symbol AA change Variation ID SNP ID
1F5p.Tyr1730CysVAR_032700
2F5p.Arg2102CysVAR_032701

Clinvar genetic disease variations for Factor V Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1F5F5, 4-BP DEL, EX13deletionPathogenic
2F5F5, 4-BP INS, 2805ATTGinsertionPathogenic
3F5F5, 8-BP DEL, NT1131deletionPathogenic
4F5NM_000130.4(F5): c.5189A> G (p.Tyr1730Cys)single nucleotide variantPathogenicrs118203907GRCh37Chr 1, 169500043: 169500043
5F5NM_000130.4(F5): c.2401C> T (p.Gln801Ter)single nucleotide variantPathogenicrs118203908GRCh37Chr 1, 169511927: 169511927
6F5NM_000130.4(F5): c.3481C> T (p.Arg1161Ter)single nucleotide variantPathogenicrs118203909GRCh37Chr 1, 169510847: 169510847
7F5F5, 1-BP DEL, 2952TdeletionPathogenic
8F5F5, 1-BP INS, 5493GinsertionPathogenic
9F5NM_000130.4(F5): c.6304C> T (p.Arg2102Cys)single nucleotide variantPathogenicrs118203910GRCh37Chr 1, 169487691: 169487691

Expression for genes affiliated with Factor V Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor V Deficiency

Search GEO for disease gene expression data for Factor V Deficiency.

Pathways for genes affiliated with Factor V Deficiency

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 53QIAGEN, 54R&D Systems
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Pathways related to Factor V Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5F5, F8
2
Show member pathways
thioredoxin pathway38
9.2F7, F2
3
Show member pathways
8.6F9, F2, F7
4
Show member pathways
8.6F7, F9, F2
5
Show member pathways
7.1F5, F7, F8, F3, F9, F2
6
Show member pathways
7.1F7, F5, F9, F2, F8, F3
7
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
7.1F2, F9, F3, F8, F5, F7
8
Show member pathways
7.1F5, F8, F3, F9, F2, F7

Compounds for genes affiliated with Factor V Deficiency

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Sources:
45Novoseek, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 24HMDB
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Compounds related to Factor V Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1rfviii459.3F8, F5, F9
2brodifacoum459.1F3, F2
3inogatran459.1F3, F2, F5
4ecarin459.1F2, F3, F5
5spectrozyme459.1F3, F5, F2
6danaparoid459.1F2, F5, F3
7ximelagatran45 1110.1F5, F3, F2
8heparinoids459.1F2, F3, F5
9bivalirudin45 1110.0F3, F2, F5
10argatroban45 1110.0F2, F3, F5
11protamine sulfate459.0F3, F5, F2
12hydroxyethyl starch458.9F8, F3, F2
13organon458.8F2, F3, F9
14mnpt458.8F3, F2
15cacl2458.8F8, F5, F3, F9
16phenprocoumon45 51 1110.8F2, F9, F3
17epsilon aminocaproic acid458.7F2, F9, F3
18levonorgestrel45 61 29 1111.7F2, F3, F5, F7
19cyclophosphamide45 51 1110.6F3, F5, F8, F9
20cardiolipin45 119.6F3, F5, F8, F2
21endotoxin458.5F8, F9, F3, F5
22fondaparinux458.5F3, F2, F9, F5
23acenocoumarol45 51 1110.5F3, F2, F5, F9
24coumarins458.5F2, F5, F9, F3
25coumarin45 3 51 2411.5F5, F3, F9, F2
26phosphatidylethanolamine45 119.5F2, F9, F8, F5
27dermatan sulfate458.5F5, F3, F9, F2
28acetaminophen45 3 51 24 1112.4F2, F5, F8, F9
29aprotinin45 119.4F5, F9, F2, F3
30tranexamic acid45 119.4F2, F9, F3, F8
31aspirin45 51 29 2411.3F8, F3, F2, F5
32phosphatidylcholine458.2F9, F5, F8, F2
33epinephrine45 24 1110.1F2, F3, F8, F5
34gamma-carboxyglutamic acid458.1F3, F5, F2, F7, F9
35kininogen458.1F3, F9, F7, F2, F5
36kaolin458.0F3, F8, F9, F2, F5
37ristocetin458.0F9, F3, F8, F5, F2
38desmopressin45 61 29 1111.0F2, F5, F8, F3, F9
39hirudin458.0F8, F5, F9, F3, F2
40homocysteine45 249.0F2, F9, F5, F8, F3
41citrate458.0F3, F2, F8, F9, F5
42phosphatidylserine45 29 1110.0F5, F8, F3, F9, F2
43phospholipid457.9F5, F8, F3, F9, F2
44heparin45 29 24 1110.8F3, F8, F9, F2, F5
45alanine457.6F5, F8, F3, F9, F2
46warfarin45 51 24 1110.6F7, F5, F8, F3, F9, F2
47fibrinogen457.6F2, F7, F5, F8, F3, F9
48creatinine457.5F2, F5, F3, F7, F8, F9
49aspartate457.5F7, F5, F8, F3, F2, F9
50serine457.3F5, F3, F9, F2, F8, F7

GO Terms for genes affiliated with Factor V Deficiency

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16Gene Ontology
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Cellular components related to Factor V Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.5F5, F8
2Golgi lumenGO:0057968.6F2, F9, F7
3endoplasmic reticulum lumenGO:0057888.3F2, F9, F7
4extracellular spaceGO:0056157.9F2, F7, F5, F8, F3
5extracellular regionGO:0055767.6F7, F2, F5, F8, F9
6plasma membraneGO:0058867.0F3, F9, F2, F7, F5, F8

Biological processes related to Factor V Deficiency according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.7F3, F7
2positive regulation of positive chemotaxisGO:0509279.7F7, F3
3platelet degranulationGO:0025769.5F8, F5
4positive regulation of blood coagulationGO:0301949.4F2, F7
5positive regulation of protein kinase B signalingGO:0518979.2F7, F3
6blood coagulation, extrinsic pathwayGO:0075989.1F9, F3, F7
7acute-phase responseGO:0069539.1F8, F2
8peptidyl-glutamic acid carboxylationGO:0171878.8F7, F9, F2
9platelet activationGO:0301688.8F2, F8, F5
10blood coagulation, intrinsic pathwayGO:0075978.7F8, F9, F2
11proteolysisGO:0065088.7F9, F2, F7
12post-translational protein modificationGO:0436878.7F9, F7, F2
13cellular protein metabolic processGO:0442678.5F7, F9, F2
14blood coagulationGO:0075967.4F5, F2, F9, F3, F8, F7

Molecular functions related to Factor V Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.2F8, F5
2calcium ion bindingGO:0055098.6F7, F9, F2
3serine-type endopeptidase activityGO:0042527.5F7, F5, F8, F9, F2

Products for genes affiliated with Factor V Deficiency

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  • Antibodies
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Sources for Factor V Deficiency

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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