MCID: FCT006
MIFTS: 58

Factor V Deficiency malady

Blood category

Summaries for Factor V Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 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 aprosulate have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and kidney, and related mouse phenotypes are cardiovascular system and mortality/aging.

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:64 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

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 61UMLS, 49Orphanet, 20GeneTests, 22GTR, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

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


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 61 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
ICD10 via Orphanet26 D68.2

Related Diseases for Factor V Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

227400

Clinical synopsis from OMIM:

227400

Drugs & Therapeutics for Factor V Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Factor V Deficiency:

id Genetic test Affiliating Genes
1 Factor V Deficiency20 22 F5

Anatomical Context for Factor V Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Factor V Deficiency:

33
Skin, Brain, Kidney, Lung, Thymus, Heart, Smooth muscle, Small intestine, Thyroid, Breast, Monocytes, B lymphoblasts, B cells, Endothelial, Pituitary

Animal Models for Factor V Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Factor V Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.2F9, F7, F3, F2
2MP:00107687.6F2, F3, F7, F5, F8, F9
3MP:00053767.5F2, F3, F7, F5, F8, F9

Publications for Factor V Deficiency

Sources:
51PubMed
See all sources

Articles related to Factor V Deficiency:

(show top 50)    (show all 342)
idTitleAuthorsYear
1
A vascular endothelial growth factor deficiency characterises scleroderma lung disease. (22402140)
2012
2
Unilateral tremor induced by risperidone in a patient with acute mania: vitamin B12 deficiency as possible mediating factor. (22701262)
2012
3
Combined factor V and factor VIII deficiency. (22895292)
2012
4
Acquired factor VIII deficiency presenting as a floor of the mouth swelling. (22687672)
2011
5
Varicocele as a risk factor for androgen deficiency and effect of repair. (21435152)
2011
6
Is vitamin D deficiency a risk factor for ischemic heart disease in patients with established cardiovascular disease? 10-year follow-up of the Nova Scotia Health Survey. (21396725)
2011
7
Combined deficiency of factors V and VIII caused by a novel compound heterozygous mutation of gene Lman1]. (20137144)
2010
8
Elevated insulin-like growth factor-I values in children with Prader-Willi syndrome compared with growth hormone (GH) deficiency children over two years of GH treatment. (20926543)
2010
9
Low plasma levels of monocyte chemoattractant protein-1 (MCP-1), tumor necrosis factor-alpha (TNFalpha), and vascular endothelial growth factor (VEGF) in patients with alpha1-antitrypsin deficiency-related fibromyalgia. (19924498)
2010
10
Pathological basis of qi-deficiency and blood stasis syndrome in patients with non-small cell lung cancer viewing from tumor metastasis related factors]. (20073217)
2009
11
ADAMTS13 deficiency with elevated levels of ultra-large and active von Willebrand factor in P. falciparum and P. vivax malaria. (19270304)
2009
12
A severe deficiency of coagulation factor VIIa results in attenuation of the asthmatic response in mice. (19286924)
2009
13
Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. (17971482)
2008
14
Molecular characterization of 3 factor V mutations, R2174L, V1813M, and a 5-bp deletion, that cause factor V deficiency. (18192108)
2007
15
Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome. (17483712)
2007
16
Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: molecular characterization by in-vitro expression. (17849061)
2007
17
A novel factor XI missense mutation (Val371Ile) in the activation loop is responsible for a case of mild type II factor XI deficiency. (17971173)
2007
18
Deciphering the mystery of combined factor V and factor VIII deficiency. (16689736)
2006
19
Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. (16304051)
2006
20
Delayed suprachoroidal hemorrhage and factor VIII deficiency. (15652853)
2005
21
The incidence of venous thromboembolism in carriers of antithrombin, protein C or protein S deficiency associated with the HR2 haplotype of factor V: a family cohort study. (15978097)
2005
22
Low factor VIII levels are a risk factor for bleeding in patients with factor XI deficiency. (15634287)
2005
23
Successful management of intramural ureteral hemorrhage in a patient with factor VIII deficiency and high-titer inhibitor. (15613051)
2004
24
Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation. (15456490)
2004
25
The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature. (15306750)
2004
26
Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4. (12925582)
2003
27
Circumcision in a combined factor V and factor VIII deficiency using desmopressin (DDAVP). (12026204)
2002
28
Factor VII deficiency in pregnancy treated with recombinant factor VIIa. (11975965)
2002
29
Recombinant human factor VIIa in the management of amyloid-associated factor X deficiency. (11298609)
2001
30
Plasma glucosylceramide deficiency as potential risk factor for venous thrombosis and modulator of anticoagulant protein C pathway. (11264150)
2001
31
Hereditary deficiency of antithrombin III, protein C, protein S and factor XII in 121 patients with venous or arterial thrombosis]. (10377836)
1999
32
Hereditary deficiency of vitamin-K-dependent coagulation factors in Rambouillet sheep. (10192655)
1999
33
Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. (9546392)
1998
34
Use of plasma exchange in hereditary deficiency of factor V and factor VIII. (8756096)
1996
35
Molecular etiology of factor VIII deficiency in hemophilia A. (7728145)
1995
36
Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency. (7562967)
1995
37
Combined factor V and factor VIII deficiency with congenital heart disease:response to plasma and DDAVP infusion. (7825020)
1994
38
In vivo hepatic gene therapy: complete albeit transient correction of factor IX deficiency in hemophilia B dogs. (8134398)
1994
39
Pharmacokinetics of recombinant human insulin-like growth factor I given subcutaneously to healthy volunteers and to patients with growth hormone receptor deficiency. (8219484)
1993
40
Factor XII deficiency and central retinal vein occlusion. (1353152)
1992
41
Acquired factor VIII deficiency and polyradiculoneuropathy. (1901137)
1991
42
Management of cesarean section under replacement therapy with factor VIII concentrates in a pregnant case with congenital combined deficiency of factor V and factor VIII]. (1942544)
1991
43
A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. (2104761)
1990
44
Severe factor VIII deficiency in a chromosomally normal female. (3097867)
1986
45
Surgical correction of coarctation of the aorta and ventricular septal defect in an infant with inherited factor V deficiency. (6878075)
1983
46
Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. (6811896)
1982
47
Syndrome of acquired factor X deficiency and systemic amyloidosis in vivo studies of the metabolic fate of factor X. (865580)
1977
48
Factor VII verona coagulation disorder: double heterozygosis with an abnormal factor VII and heterozygous factor VII deficiency. (901936)
1977
49
Familial association of thrombopathia and antihemophilic factor (AHF, factor VIII) deficiency. (4537881)
1972
50
Factor V in blood coagulation in vitro, and a report of a case of factor-V deficiency. (13536258)
1958

Genetic Variations for Factor V Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Factor V Deficiency:

63
id Symbol AA change Variation SNP ID
1F5p.Tyr1730CysVAR_032700
2F5p.Arg2102CysVAR_032701

Expression for genes affiliated with Factor V Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 50PharmGKB, 30KEGG, 38NCBI BioSystems Database, 53R&D Systems
See all sources

Compounds for genes affiliated with Factor V Deficiency

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Factor V Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 112)
idCompoundScoreTop Affiliating Genes
1coumarins459.8F3, F9
2aprosulate459.8F3
3warfarin45 50 11 2412.7MCFD2, F9
4rfviii459.5F9, F8, F5
52-(4-HYDROXY-5-PHENYL-1H-PYRAZOL-3-YL)-1H-BENZOIMIDAZOLE-5-CARBOXAMIDINE119.4F3, F7
6aspartate459.4F8, F7, F2
7Coagulation Factor IX119.4F8, F7, F2
8Drotrecogin alfa119.4F8, F5, F2
9inogatran459.4F2, F3, F5
10ecarin459.4F2, F3, F5
11napsagatran459.3F2, F3
12spectrozyme459.3F5, F3, F2
13aprotinin45 1110.3F3, F5, F9
14danaparoid459.3F5, F3, F2
15ximelagatran45 1110.3F5, F3, F2
16heparinoids459.3F2, F3, F5
17bivalirudin45 1110.3F5, F3, F2
18argatroban45 1110.2F5, F3, F2
19organon459.2F9, F3, F2
20mononine459.2F2, F9
21protamine sulfate459.2F2, F3, F5
22phenprocoumon45 50 1111.2F9, F3, F2
23epsilon aminocaproic acid459.1F9, F3, F2
24hydroxyethyl starch459.1F8, F3, F2
25phosphatidylethanolamine45 1110.0F9, F8, F5, F2
26levonorgestrel45 60 29 1112.0F2, F3, F7, F5
27fondaparinux458.9F2, F3, F5, F9
28acenocoumarol45 50 1110.9F9, F5, F3, F2
29acetaminophen45 2 50 11 2412.9F9, F8, F5, F2
30cacl2458.9F9, F8, F5, F3
31coumarin45 2 50 2411.9F9, F5, F3, F2
32dermatan sulfate458.9F9, F5, F3, F2
33tranexamic acid45 119.8F9, F8, F3, F2
34phosphatidylcholine458.7F9, F8, F5, F2
35cyclophosphamide45 50 1110.7F3, F5, F8, F9
36endotoxin458.6F3, F5, F8, F9
37gamma-carboxyglutamic acid458.5F9, F5, F7, F3, F2
38kininogen458.5F9, F5, F7, F3, F2
39aspirin45 50 29 2411.5F8, F5, F3, F2
40kaolin458.4F2, F3, F5, F8, F9
41ristocetin458.4F9, F8, F5, F3, F2
42desmopressin45 60 29 1111.4F2, F3, F5, F8, F9
43hirudin458.4F9, F8, F5, F3, F2
44homocysteine45 249.4F9, F8, F5, F3, F2
45citrate458.4F9, F8, F5, F3, F2
46phosphatidylserine45 29 1110.4F9, F8, F5, F3, F2
47phospholipid458.3F9, F8, F5, F3, F2
48heparin45 29 11 2411.2F9, F8, F5, F3, F2
49fibrinogen458.0F9, F8, F5, F7, F3, F2
50creatinine458.0F9, F8, F5, F7, F3, F2

GO Terms for genes affiliated with Factor V Deficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor V Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet