MCID: FCT006
MIFTS: 58

Factor V Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Factor V Deficiency

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Factor V Deficiency, Aliases & Descriptions:

Name: Factor V Deficiency 45 9 10 41 20 21 11 22 60
Proaccelerin Deficiency 9 41 21 47
Parahemophilia 41 21 47
Owren Disease 41 21 47
Congenital Factor V Deficiency 41 47
 
Labile Factor Deficiency 9 21
Hereditary Hypoproaccelerinaemia 9
Deficiency, Labile 9
Owren's Disease 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
proaccelerin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM45 227400
Disease Ontology9 DOID:2216
MeSH33 D005166
Orphanet47 326
ICD10 via Orphanet26 D68.2
UMLS via Orphanet61 C0015499

Summaries for Factor V Deficiency

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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 based summary: Factor V Deficiency, also known as proaccelerin deficiency, is related to thrombophlebitis and cardiac tamponade, and has symptoms including autosomal recessive inheritance, menorrhagia and epistaxis. 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 lung, skin and whole blood, and related mouse phenotypes are embryogenesis and cardiovascular system.

NIH Rare Diseases:41 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:63 Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as... more...

Description from OMIM:45 227400

Related Diseases for Factor V Deficiency

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Diseases related to Factor V Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophlebitis30.8F8
2cardiac tamponade30.7F8
3hemorrhagic disease30.6F9
4factor v and factor viii, combined deficiency of30.5F5, F8
5hypoprothrombinemia30.3F2, F5
6thrombophilia due to activated protein c resistance29.2F2, F5, F8, F3, F9
7thrombocytopenia29.2F7, F5, F8, F9, F2, F3
8central retinal vein occlusion10.5F5
9sagittal sinus thrombosis10.5F5
10homocysteinemia10.5F5
11glanzmann thrombasthenia10.4F7
12coronary thrombosis10.4F3
13coumarin resistance10.4F9
14factor xiii deficiency10.3F3, F5
15amyloidosis10.2
16hemophilia10.2
17blood platelet disease10.2F8, F3
18stroke, ischemic10.2F5, F3
19thrombotic thrombocytopenic purpura, acquired10.1F3, F8
20blood protein disease10.1F2, F5
21thrombophilia due to antithrombin iii deficiency10.1F5, F2
22dysfibrinogenemia10.1F5, F2
23rheumatoid arthritis10.1
24celiac disease10.1
25arthritis10.1
26burns10.1
27leukemia10.1
28thalassemia10.1
29pulmonary tuberculosis10.1
30hereditary spherocytosis10.1
31acquired immunodeficiency syndrome10.1
32bullous pemphigoid10.1
33infertility10.1
34arteriovenous malformation10.1
35adenocarcinoma10.1
36sarcoma10.1
37tuberculosis10.1
38ventricular septal defect10.1
39al amyloidosis10.1
40scott syndrome10.1F2, F5
41placental abruption10.1F2, F5
42combined factor v and viii deficiency10.1
43vitamin k deficiency hemorrhagic disease10.1F8, F2
44acute myocardial infarction10.0F3, F7
45hepatitis a10.0F2, F8
46intracranial thrombosis10.0F3, F8, F5
47vascular disease10.0F3, F7, F5
48arthropathy10.0F8, F9
49brain disease10.0F8, F3
50factor xii deficiency10.0F5, F3, F9

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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Symptoms by clinical synopsis from OMIM:

227400

Clinical features from OMIM:

227400

HPO human phenotypes related to Factor V Deficiency:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 menorrhagia HP:0000132
3 epistaxis HP:0000421
4 bruising susceptibility HP:0000978
5 abnormal bleeding HP:0001892
6 prolonged bleeding time HP:0003010
7 reduced factor v activity HP:0003225
8 prolonged partial thromboplastin time HP:0003645
9 prolonged whole-blood clotting time HP:0005542

Drugs & Therapeutics for Factor V Deficiency

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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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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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MalaCards organs/tissues related to Factor V Deficiency:

31
Lung, Skin, Whole blood, Testes, Placenta

Animal Models for Factor V Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor V Deficiency:

35
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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Articles related to Factor V Deficiency:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. (25470420)
2015
2
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. (25438872)
2015
3
Management of bleeding in severe factor V deficiency with a factor V inhibitor. (24517203)
2014
4
Successful delivery in patients with severe congenital factor V deficiency: a study of five homozygous patients. (23746195)
2013
5
Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation. (23616041)
2013
6
Use of pharmacokinetic modelling to individualize FFP dosing in factor V deficiency. (23173558)
2013
7
Severe factor V deficiency in two brothers with different clinical presentations. (22758216)
2012
8
Extraction of four wisdom teeth in a patient with congenital factor V deficiency hemophilia. (21669355)
2011
9
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency. (21614419)
2011
10
Inherited and acquired factor V deficiency. (21245750)
2011
11
Successful mitral valve repair in a patient with factor V deficiency. (20695908)
2011
12
Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. (19861681)
2010
13
Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions. (20028426)
2010
14
Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency. (20664902)
2010
15
Advances in understanding the bleeding diathesis in factor V deficiency. (19438479)
2009
16
Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding. (19806267)
2009
17
Acquired haemophilia A associated with transitory and severe factor V deficiency during bullous pemphigoid: first report. (19277424)
2009
18
Treatment of massive cecal bleeding in a 28-Year-old patient with homozygous factor V deficiency with activated factor VII. (18322882)
2008
19
Successful pregnancy in a patient with factor V deficiency: case report and review of the literature. (16676084)
2006
20
Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain. (16420587)
2006
21
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
22
Anesthetic management of coagulation factor V deficiency]. (16363299)
2005
23
Off-pump coronary artery bypass grafting in a patient with congenital factor V deficiency: report of a case. (15674496)
2005
24
High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review. (15735818)
2005
25
Type I coagulation factor V deficiency caused by compound heterozygous mutation of F5 gene. (14511309)
2003
26
Two novel factor V gene mutations associated with congenital coagulation factor V deficiency, study of one pedigree]. (12812650)
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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UniProtKB/Swiss-Prot genetic disease variations for Factor V Deficiency:

62
id Symbol AA change Variation ID SNP ID
1F5p.Tyr1730CysVAR_032700
2F5p.Arg2102CysVAR_032701

Clinvar genetic disease variations for Factor V Deficiency:

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

Pathways for genes affiliated with Factor V Deficiency

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Pathways related to Factor V Deficiency according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5F5, F8
2
Show member pathways
thioredoxin pathway36
9.2F7, F2
3
Show member pathways
8.6F7, F9, F2
4
Show member pathways
8.6F2, F9, F7
5
Show member pathways
7.1F2, F9, F3, F8, F5, F7
6
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
7.1F2, F9, F3, F8, F5, F7
7
Show member pathways
7.1F2, F9, F3, F8, F5, F7
8
Show member pathways
7.1F7, F2, F9, F3, F8, F5

Compounds for genes affiliated with Factor V Deficiency

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Compounds related to Factor V Deficiency according to GeneCards Suite gene sharing:

(show top 50)    (show all 120)
idCompoundScoreTop Affiliating Genes
1rfviii439.3F8, F5, F9
2brodifacoum439.1F3, F2
3inogatran439.1F3, F2, F5
4ecarin439.1F2, F3, F5
5spectrozyme439.1F3, F5, F2
6danaparoid439.1F2, F5, F3
7ximelagatran43 1210.1F5, F3, F2
8heparinoids439.1F2, F3, F5
9bivalirudin43 1210.0F3, F2, F5
10argatroban43 1210.0F2, F3, F5
11protamine sulfate439.0F3, F5, F2
12hydroxyethyl starch438.9F8, F3, F2
13organon438.8F2, F3, F9
14mnpt438.8F3, F2
15cacl2438.8F8, F5, F3, F9
16phenprocoumon43 49 1210.8F2, F9, F3
17epsilon aminocaproic acid438.7F2, F9, F3
18levonorgestrel43 59 28 1211.7F2, F3, F5, F7
19cyclophosphamide43 49 1210.6F3, F5, F8, F9
20cardiolipin43 129.6F3, F5, F8, F2
21endotoxin438.5F8, F9, F3, F5
22fondaparinux438.5F3, F2, F9, F5
23acenocoumarol43 49 1210.5F3, F2, F5, F9
24coumarins438.5F2, F5, F9, F3
25coumarin43 2 49 2411.5F5, F3, F9, F2
26phosphatidylethanolamine43 129.5F2, F9, F8, F5
27dermatan sulfate438.5F5, F3, F9, F2
28acetaminophen43 2 49 24 1212.4F2, F5, F8, F9
29aprotinin43 129.4F5, F9, F2, F3
30tranexamic acid43 129.4F2, F9, F3, F8
31aspirin43 49 28 2411.3F8, F3, F2, F5
32phosphatidylcholine438.2F9, F5, F8, F2
33epinephrine43 24 1210.1F2, F3, F8, F5
34gamma-carboxyglutamic acid438.1F3, F5, F2, F7, F9
35kininogen438.1F3, F9, F7, F2, F5
36kaolin438.0F3, F8, F9, F2, F5
37ristocetin438.0F9, F3, F8, F5, F2
38desmopressin43 59 28 1211.0F2, F5, F8, F3, F9
39hirudin438.0F8, F5, F9, F3, F2
40homocysteine43 249.0F2, F9, F5, F8, F3
41citrate438.0F3, F2, F8, F9, F5
42phosphatidylserine43 28 1210.0F5, F8, F3, F9, F2
43phospholipid437.9F5, F8, F3, F9, F2
44heparin43 28 24 1210.8F3, F8, F9, F2, F5
45alanine437.6F5, F8, F3, F9, F2
46warfarin43 49 24 1210.6F7, F5, F8, F3, F9, F2
47fibrinogen437.6F2, F7, F5, F8, F3, F9
48creatinine437.5F2, F5, F3, F7, F8, F9
49aspartate437.5F7, F5, F8, F3, F2, F9
50serine437.3F5, F3, F9, F2, F8, F7

GO Terms for genes affiliated with Factor V Deficiency

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Cellular components related to Factor V Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.5F5, F8
2Golgi lumenGO:00057968.6F2, F9, F7
3endoplasmic reticulum lumenGO:00057888.3F7, F9, F2
4extracellular spaceGO:00056157.9F7, F5, F8, F3, F2
5extracellular regionGO:00055767.6F2, F9, F8, F5, F7
6plasma membraneGO:00058867.0F2, F9, F3, F8, F5, F7

Biological processes related to Factor V Deficiency according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:00106419.7F7, F3
2positive regulation of positive chemotaxisGO:00509279.7F7, F3
3platelet degranulationGO:00025769.5F5, F8
4positive regulation of blood coagulationGO:00301949.4F2, F7
5positive regulation of protein kinase B signalingGO:00518979.2F7, F3
6blood coagulation, extrinsic pathwayGO:00075989.1F7, F3, F9
7acute-phase responseGO:00069539.1F8, F2
8peptidyl-glutamic acid carboxylationGO:00171878.8F2, F9, F7
9platelet activationGO:00301688.8F2, F8, F5
10blood coagulation, intrinsic pathwayGO:00075978.7F8, F9, F2
11proteolysisGO:00065088.7F7, F9, F2
12post-translational protein modificationGO:00436878.7F7, F9, F2
13cellular protein metabolic processGO:00442678.5F2, F9, F7
14blood coagulationGO:00075967.4F7, F2, F9, F3, F8, F5

Molecular functions related to Factor V Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:00055079.2F8, F5
2calcium ion bindingGO:00055098.6F7, F9, F2
3serine-type endopeptidase activityGO:00042527.5F7, F5, F8, F9, F2

Products for genes affiliated with Factor V Deficiency

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Sources for Factor V Deficiency

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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