MCID: FCT006
MIFTS: 63

Factor V Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Factor V Deficiency

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

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.

Wikipedia:66 Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as... more...

Description from OMIM:48 227400

Aliases & Classifications for Factor V Deficiency

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 11DISEASES, 63UMLS, 50Orphanet, 21GeneTests, 23GTR, 59SNOMED-CT, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS 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):

50
proaccelerin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

factor v deficiency 9 10 44 22 48 11 63 21 23
proaccelerin deficiency 9 22 50
labile factor deficiency 9 22
parahemophilia 22 50
owren disease 22 50
hereditary hypoproaccelerinaemia 9
congenital factor v deficiency 50
deficiency, labile 9
owren's disease 22


External Ids:

Disease Ontology9 DOID:2216
OMIM48 227400
MeSH36 D005166
SNOMED-CT via Orphanet60 4320005, 88776002
ICD10 via Orphanet27 D68.2
UMLS via Orphanet64 C0015499

Related Diseases for Factor V Deficiency

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18GeneCards, 19GeneDecks
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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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Sources:
48OMIM
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Factor V Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor V Deficiency

Search NIH Clinical Center for Factor V Deficiency

Search CenterWatch for Factor V Deficiency

Genetic Tests for Factor V Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Factor V Deficiency:

id Genetic test Affiliating Genes
1 Factor V Deficiency21 23 F5

Anatomical Context for Factor V Deficiency

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34MalaCards
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MalaCards organs/tissues related to Factor V Deficiency:

34
Testes, Lung, Placenta

Animal Models for Factor V Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Factor V Deficiency:

38
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:
53PubMed
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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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Factor V Deficiency:

65
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, 16Gene 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:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 54QIAGEN, 55R&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 pathway39
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 Pathway39
Complement and Coagulation Cascades39
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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46Novoseek, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR, 3BitterDB, 25HMDB
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Compounds related to Factor V Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1rfviii469.3F8, F5, F9
2brodifacoum469.1F3, F2
3inogatran469.1F3, F2, F5
4ecarin469.1F2, F3, F5
5spectrozyme469.1F3, F5, F2
6danaparoid469.1F2, F5, F3
7ximelagatran46 1210.1F5, F3, F2
8heparinoids469.1F2, F3, F5
9bivalirudin46 1210.0F3, F2, F5
10argatroban46 1210.0F2, F3, F5
11protamine sulfate469.0F3, F5, F2
12hydroxyethyl starch468.9F8, F3, F2
13organon468.8F2, F3, F9
14mnpt468.8F3, F2
15cacl2468.8F8, F5, F3, F9
16phenprocoumon46 52 1210.8F2, F9, F3
17epsilon aminocaproic acid468.7F2, F9, F3
18levonorgestrel46 62 30 1211.7F2, F3, F5, F7
19cyclophosphamide46 52 1210.6F3, F5, F8, F9
20cardiolipin46 129.6F3, F5, F8, F2
21endotoxin468.5F8, F9, F3, F5
22fondaparinux468.5F3, F2, F9, F5
23acenocoumarol46 52 1210.5F3, F2, F5, F9
24coumarins468.5F2, F5, F9, F3
25coumarin46 3 52 2511.5F5, F3, F9, F2
26phosphatidylethanolamine46 129.5F2, F9, F8, F5
27dermatan sulfate468.5F5, F3, F9, F2
28acetaminophen46 3 52 25 1212.4F2, F5, F8, F9
29aprotinin46 129.4F5, F9, F2, F3
30tranexamic acid46 129.4F2, F9, F3, F8
31aspirin46 52 30 2511.3F8, F3, F2, F5
32phosphatidylcholine468.2F9, F5, F8, F2
33epinephrine46 25 1210.1F2, F3, F8, F5
34gamma-carboxyglutamic acid468.1F3, F5, F2, F7, F9
35kininogen468.1F3, F9, F7, F2, F5
36kaolin468.0F3, F8, F9, F2, F5
37ristocetin468.0F9, F3, F8, F5, F2
38desmopressin46 62 30 1211.0F2, F5, F8, F3, F9
39hirudin468.0F8, F5, F9, F3, F2
40homocysteine46 259.0F2, F9, F5, F8, F3
41citrate468.0F3, F2, F8, F9, F5
42phosphatidylserine46 30 1210.0F5, F8, F3, F9, F2
43phospholipid467.9F5, F8, F3, F9, F2
44heparin46 30 25 1210.8F3, F8, F9, F2, F5
45alanine467.6F5, F8, F3, F9, F2
46warfarin46 52 25 1210.6F7, F5, F8, F3, F9, F2
47fibrinogen467.6F2, F7, F5, F8, F3, F9
48creatinine467.5F2, F5, F3, F7, F8, F9
49aspartate467.5F7, F5, F8, F3, F2, F9
50serine467.3F5, F3, F9, F2, F8, F7

GO Terms for genes affiliated with Factor V Deficiency

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17Gene 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
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