MCID: FCT006
MIFTS: 64

Factor V Deficiency malady

Blood diseases category

Summaries for Factor V Deficiency

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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 protein c deficiency and amyloidosis. An important gene associated with Factor V Deficiency is F5 (coagulation factor V (proaccelerin, labile factor)), and among its related pathways are PTM: gamma carboxylation, hypusine formation and arylsulfatase activation and Platelet activation, signaling and aggregation. The compounds coumarins and warfarin have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and testes, and related mouse phenotypes are cardiovascular system and mortality/aging.

NIH Rare Diseases:42 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:46 227400

Aliases & Classifications for Factor V Deficiency

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 60UMLS, 48Orphanet, 20GeneTests, 22GTR, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
proaccelerin deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

factor v deficiency 8 9 42 21 46 10 60 20 22
proaccelerin deficiency 8 21 48
labile factor deficiency 8 21
parahemophilia 21 48
owren disease 21 48
hereditary hypoproaccelerinaemia 8
congenital factor v deficiency 48
deficiency, labile 8
owren's disease 21


External Ids:

Disease Ontology8 DOID:2216
OMIM46 227400
MeSH34 D005166
SNOMED-CT via Orphanet57 4320005, 88776002
ICD10 via Orphanet26 D68.2

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 112)
idRelated DiseaseScoreTop Affiliating Genes
1protein c deficiency30.5F9, F5, F2
2amyloidosis30.3F9
3factor vii deficiency30.2F9, F8, F5, F7, F3, F2
4thrombocytopenia30.2F9, F8, F5, F7, F3, F2
5thrombophlebitis30.0F8
6acquired immunodeficiency syndrome30.0F8
7cardiac tamponade30.0F8
8factor viii deficiency30.0F9, F2, F3, F7, F5, F8
9combined factor v and viii deficiency30.0F8, F5, MCFD2
10hemorrhagic disease29.9F9, F8, F5, F3, F2
11hemophilia10.2
12burns10.0
13bullous pemphigoid10.0
14pulmonary tuberculosis10.0
15arteriovenous malformation10.0
16hereditary spherocytosis10.0
17celiac disease10.0
18kaposi's sarcoma10.0
19infertility10.0
20adenocarcinoma10.0
21arthritis10.0
22leukemia10.0
23rheumatoid arthritis10.0
24sarcoma10.0
25thalassemia10.0
26tuberculosis10.0
27ventricular septal defect10.0
28thrombophilia due to factor v leiden10.0
29factor v and factor viii, combined deficiency of10.0
30retinal vein occlusion10.0F5
31hellp syndrome10.0F5
32purpura fulminans10.0F5
33central retinal vein occlusion10.0F5
34ovarian hyperstimulation syndrome10.0F5
35sickle cell disease10.0F9
36coronary heart disease10.0F7
37sagittal sinus thrombosis10.0F5
38obesity10.0F7
39nephrotic syndrome10.0F9
40homocysteinemia10.0F5
41patent foramen ovale10.0F5
42hemangioma10.0F8
43respiratory failure10.0F3
44coronary thrombosis10.0F3
45primary hyperoxaluria10.0F8
46cholestasis10.0F2
47homocystinuria10.0F5
48breast cancer10.0F9
49warfarin resistance10.0MCFD2
50prothrombin deficiency10.0F5, F2

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



Diseases related to factor v deficiency

Clinical Features for Factor V Deficiency

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46OMIM
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Clinical features from OMIM:

227400

Clinical synopsis from OMIM:

227400

Drugs & Therapeutics for Factor V Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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32MalaCards
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MalaCards organs/tissues related to Factor V Deficiency:

32
Skin, Lung, Testes, Liver, Heart, Placenta

Animal Models for Factor V Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Factor V Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.2F2, F9, F7, F3
2MP:00107687.6F5, F7, F9, F3, F2, F8
3MP:00053767.5F9, F8, F5, F7, F3, F2

Publications for Factor V Deficiency

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50PubMed
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Articles related to Factor V Deficiency:

(show top 50)    (show all 282)
idTitleAuthorsYear
1
Frequency of combined factor V and factor VIII deficiency in southern Iran. (24370584)
2014
2
Combined factor V and factor VIII deficiency: a report of a case, genetic analysis, and response to desmopressin acetate. (22895291)
2012
3
Combined factor V and factor VIII deficiency. (22895292)
2012
4
Extraction of four wisdom teeth in a patient with congenital factor V deficiency hemophilia. (21669355)
2011
5
Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. (19861681)
2010
6
Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency. (20664902)
2010
7
Inherited factor V deficiency associated with a novel heterozygous missense mutation (p.G493R) in a patient with excessive surgical bleeding. (19806267)
2009
8
Acquired haemophilia A associated with transitory and severe factor V deficiency during bullous pemphigoid: first report. (19277424)
2009
9
Factor V Leiden mutation leads to enhanced atherosclerosis in apolipoprotein E deficient mice]. (19671356)
2009
10
The prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T among G6PD deficient individuals from Western Iran. (19219640)
2009
11
Treatment of massive cecal bleeding in a 28-Year-old patient with homozygous factor V deficiency with activated factor VII. (18322882)
2008
12
Coronary artery anomaly with congenital factor V deficiency. (19024144)
2008
13
Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern. (18728029)
2008
14
Urgent arterial: venous fistula to secure vascular access in a patient with severe factor V deficiency and intracranial haemorrhage. (17610566)
2007
15
Portal, splenic and mesenteric vein thrombosis in a patient with factor V Leiden mutation and antithrombin III deficiency. (16525787)
2006
16
Combined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics. (15876275)
2005
17
Severe factor V deficiency and pregnancy - a role for solvent-detergent plasma? (16011601)
2005
18
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
19
Combination of congenital coagulation disorders: Factor II gene mutation G20210A, Factor V Leiden gene mutation G1691A and protein S deficiency. a family study. (12801853)
2003
20
Factor V New Brunswick: Ala221Val associated with FV deficiency reproduced in vitro and functionally characterized. (12714495)
2003
21
Hypopituitarism, deficiency of factors V and VIII and von Willebrand factor: an uncommon association. (11926206)
2002
22
Hereditary combined coagulation factor V and factor VIII deficiency: report of two Indian families from Varanasi. (12696729)
2002
23
Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. (11435304)
2001
24
The storage defects in grey platelet syndrome and alphadelta-storage pool deficiency affect alpha-granule factor V and multimerin storage without altering their proteolytic processing. (11442477)
2001
25
Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies. (11694407)
2001
26
Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. luscaber@tin.it. (10728027)
2000
27
Familial coagulation factor V deficiency caused by a novel 4 base pair insertion in the factor V gene: factor V Stanford [erratum]. (10681265)
1999
28
Thrombotic risk of muscular dystrophy: protein C deficiency, factor V Leiden, and myotonic dystrophy. (10726006)
1999
29
Emergency evacuation of expanding intracerebral haemorrhage in parahaemophilia (coagulation factor V deficiency). (10929735)
1999
30
Hemorrhagic and thrombotic disorders due to factor V deficiencies and abnormalities: an updated classification. (9597197)
1998
31
Recurrent venous thromboembolic disease and factor XI concentrate in a patient with severe factor XI deficiency, chronic myelomonocytic leukaemia, factor V Leiden and heterozygous plasminogen deficiency. (9391725)
1997
32
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
33
A case of coagulation factor V deficiency complicated with intracranial hemorrhage. (9159044)
1997
34
Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance. (9157576)
1997
35
Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. (8735145)
1996
36
Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. (8815575)
1996
37
A heparin cofactor II mutation (HCII Rimini) combined with factor V Leiden or type I protein C deficiency in two unrelated thrombophilic subjects. (8902986)
1996
38
Factor V deficiency--parahaemophilia. (3802307)
1986
39
Exodontia in combined factor V and factor VIII deficiency. (3159861)
1985
40
Factor V deficiency and antenatal intraventricular haemorrhage. (6388513)
1984
41
Factor V (Quebec): a bleeding diathesis associated with a qualitative platelet Factor V deficiency. (6480825)
1984
42
Inherited factor V deficiency. Study of a Brazilian family. (6479988)
1984
43
Factor V deficiency and its reversal with gluten restriction. In a patient with celiac disease. (6625791)
1983
44
Patients with congenital factor V deficiency have decreased factor Xa binding sites on their platelets. (701480)
1978
45
A family with factor V deficiency (parahaemophilia). (934407)
1976
46
Major surgery in a subject with factor V deficiency. Cholecystectomy in a parahaemophilic woman and review of the literature. (5561956)
1971
47
Combined factor-V and factor-VIII deficiency: report of four cases. (5795507)
1969
48
Congenital factor V deficiency--report of a case. (5886272)
1965
49
Factor V deficiency in obstetrics. (14486245)
1962
50
Familial factor V deficiency: the pattern of heredity. (13194849)
1954

Genetic Variations for Factor V Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Factor V Deficiency:

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

Expression for genes affiliated with Factor V Deficiency

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1BioGPS, 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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53Reactome, 51QIAGEN, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database, 52R&D Systems
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Compounds for genes affiliated with Factor V Deficiency

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 2BitterDB
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Compounds related to Factor V Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 112)
idCompoundScoreTop Affiliating Genes
1coumarins449.8F9, F3
2warfarin44 49 11 2412.6F9, MCFD2
3rfviii449.5F9, F8, F5
42-(4-HYDROXY-5-PHENYL-1H-PYRAZOL-3-YL)-1H-BENZOIMIDAZOLE-5-CARBOXAMIDINE119.4F3, F7
5[2'-HYDROXY-3'-(1H-PYRROLO[3,2-C]PYRIDIN-2-YL)-BIPHENYL-3-YLMETHYL]-UREA119.4F7, F3
6aspartate449.4F2, F7, F8
7Coagulation Factor IX119.4F8, F2, F7
8Drotrecogin alfa119.4F2, F5, F8
9inogatran449.4F2, F3, F5
10ecarin449.4F3, F5, F2
11{5-(5-AMINO-1H-PYRROLO[3,2-B]PYRIDIN-2-YL)-6-HYDROXY-3'-NITRO-BIPHENYL-3-YL]-ACETIC ACID119.3F7, F3
12spectrozyme449.3F5, F3, F2
13danaparoid449.3F5, F3, F2
14aprotinin44 1110.3F3, F5, F9
15ximelagatran44 1110.3F5, F3, F2
16heparinoids449.3F5, F2, F3
17bivalirudin44 1110.3F5, F3, F2
185-(DIMETHYLAMINO)-1-NAPHTHALENESULFONIC ACID(DANSYL ACID)119.2F7, F2
19organon449.2F2, F3, F9
20argatroban44 1110.2F2, F3, F5
21protamine sulfate449.2F2, F3, F5
22phenprocoumon44 49 1111.1F3, F2, F9
23epsilon aminocaproic acid449.1F9, F3, F2
24hydroxyethyl starch449.1F3, F2, F8
25phosphatidylethanolamine44 1110.0F9, F8, F5, F2
26levonorgestrel44 59 28 1112.0F3, F2, F7, F5
27fondaparinux448.9F3, F5, F2, F9
28acenocoumarol44 49 1110.9F9, F5, F2, F3
29acetaminophen44 2 49 11 2412.9F8, F9, F5, F2
30cacl2448.9F5, F8, F3, F9
31coumarin44 2 49 2411.9F9, F2, F3, F5
32dermatan sulfate448.9F9, F5, F3, F2
33tranexamic acid44 119.8F2, F8, F3, F9
34phosphatidylcholine448.7F9, F2, F5, F8
35cyclophosphamide44 49 1110.7F5, F3, F9, F8
36endotoxin448.6F9, F8, F5, F3
37gamma-carboxyglutamic acid448.5F5, F7, F3, F9, F2
38kininogen448.5F5, F7, F2, F9, F3
39aspirin44 49 28 2411.5F8, F5, F3, F2
40kaolin448.4F9, F2, F3, F5, F8
41ristocetin448.4F5, F2, F9, F8, F3
42desmopressin44 59 28 1111.4F3, F8, F2, F5, F9
43hirudin448.4F3, F8, F5, F2, F9
44homocysteine44 249.4F8, F9, F5, F3, F2
45citrate448.4F2, F3, F5, F8, F9
46phosphatidylserine44 28 1110.4F3, F5, F9, F8, F2
47phospholipid448.3F2, F8, F5, F3, F9
48heparin44 28 11 2411.2F8, F5, F2, F3, F9
49fibrinogen448.0F9, F2, F3, F7, F5, F8
50creatinine448.0F5, F7, F2, F3, F9, F8

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:0310939.6F5, F8
2Golgi lumenGO:0057969.2F9, F7, F2
3endoplasmic reticulum lumenGO:0057889.1F2, F7, F9
4extracellular spaceGO:0056158.1F2, F3, F7, F5, F8
5extracellular regionGO:0055768.1F9, F8, F5, F7, F2
6plasma membraneGO:0058867.3F9, F8, F5, F7, F3, F2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.6F3, F7
2positive regulation of positive chemotaxisGO:0509279.5F3, F7
3positive regulation of blood coagulationGO:0301949.4F2, F7
4acute-phase responseGO:0069539.4F2, F8
5peptidyl-glutamic acid carboxylationGO:0171879.3F2, F7, F9
6blood coagulation, extrinsic pathwayGO:0075989.2F9, F7, F3
7blood coagulation, intrinsic pathwayGO:0075979.2F2, F8, F9
8platelet activationGO:0301688.8F2, F5, F8
9post-translational protein modificationGO:0436878.4F9, F7, MCFD2, F2
10cellular protein metabolic processGO:0442678.3F9, F7, MCFD2, F2
11blood coagulationGO:0075967.8F2, F3, F7, F5, F8, F9

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

idNameGO IDScoreTop Affiliating Genes
1copper ion bindingGO:0055079.6F5, F8
2serine-type endopeptidase activityGO:0042529.0F2, F7, F9
3calcium ion bindingGO:0055098.0F2, MCFD2, F7, F9

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet