MCID: FCT006
MIFTS: 59

Factor V Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor V Deficiency

MalaCards integrated aliases for Factor V Deficiency:

Name: Factor V Deficiency 54 12 50 24 25 71 29 13 42 14 69
Parahemophilia 24 25 56 71
Proaccelerin Deficiency 12 25 56
Owren Disease 25 56 71
Quebec Platelet Disorder 71 69
Labile Factor Deficiency 12 25
Hereditary Hypoproaccelerinaemia 12
Congenital Factor V Deficiency 56
Owren Parahemophilia 71
Factor 5 Deficiency 71
Deficiency, Labile 12
Owren's Disease 25
Fa5d 71

Characteristics:

Orphanet epidemiological data:

56
congenital factor v deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
incidence of 1 in 1,000,000
heterozygotes are usually asymptomatic


HPO:

32
factor v deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 227400
Disease Ontology 12 DOID:2216
ICD10 33 D68.2
MeSH 42 D005166
NCIt 47 C98938
Orphanet 56 ORPHA326
UMLS via Orphanet 70 C0015499
ICD10 via Orphanet 34 D68.2
MedGen 40 C0015499
UMLS 69 C0015499

Summaries for Factor V Deficiency

Genetics Home Reference : 25 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 parahemophilia, is related to factor v and factor viii, combined deficiency of and thrombophilia due to activated protein c resistance, and has symptoms including epistaxis, menorrhagia and prolonged bleeding time. An important gene associated with Factor V Deficiency is F5 (Coagulation Factor V), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Dalteparin and Heparin have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and colon, and related phenotypes are cardiovascular system and homeostasis/metabolism

NIH Rare Diseases : 50 factor v deficiency is an inheritedblood disorder that causes abnormal blood clotting (coagulation). this disorder is caused by mutations in the f5 gene, which leads to a deficiency of a protein called coagulation factor v. the reduced amount of factor v may lead to nosebleeds, easy bruising, and excessive bleeding following surgery or trauma. this condition is inherited in an autosomal recessive manner. treatment includes fresh blood plasma or fresh frozen plasma infusions during bleeding episodes.  last updated: 4/17/2017

UniProtKB/Swiss-Prot : 71 Factor V deficiency: A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

Wikipedia : 72 3S9C, 1CZS, 1CZV, 3P6Z,... more...

Description from OMIM: 227400

Related Diseases for Factor V Deficiency

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

(show top 50) (show all 145)
id Related Disease Score Top Affiliating Genes
1 factor v and factor viii, combined deficiency of 31.9 F5 F8
2 thrombophilia due to activated protein c resistance 29.8 F2 F3 F5 F8 F9
3 myeloproliferative neoplasm 29.0 F2 F3 F8
4 quebec platelet disorder 12.6
5 combined factor v and viii deficiency 11.0
6 cavernous lymphangioma 10.5 F3 F5
7 variably protease-sensitive prionopathy 10.4 F2 F5
8 syncope 10.4 F2 F5
9 lockwood feingold syndrome 10.4 F2 F5
10 superior limbic keratoconjunctivitis 10.4 F2 F5
11 follicular adenoma 10.4 F2 F5
12 bile duct cystadenoma 10.4 F2 F5
13 collagenous colitis 10.4 F2 F5
14 hiv-1 10.4 F2 F5
15 hyperthyroidism 10.4 F2 F3
16 glutathioninuria 10.4 F2 F5
17 pyridoxine deficiency anemia 10.4 F2 F3
18 primary pigmented nodular adrenocortical disease 10.4 F2 F5
19 myiasis 10.4 F2 F3
20 rectum neuroendocrine neoplasm 10.4 F2 F3
21 cryptosporidiosis 10.4 F2 F5
22 midline cystocele 10.4 F2 F3
23 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.4 F5 PLAU
24 brain stem glioma 10.4 F2 F3
25 sporotrichosis 10.4 F2 F3
26 homologous wasting disease 10.4 F2 F5
27 chronic inflammatory demyelinating polyneuritis 10.4 F2 F3
28 lymphatic system cancer 10.4 F2 F3
29 lethal congenital contracture syndrome 10.4 F2 F3
30 lujo hemorrhagic fever 10.4 F2 F3
31 angular blepharoconjunctivitis 10.4 F2 F5
32 spinal cord lipoma 10.3 F2 F3
33 necrotic uveal melanoma 10.3 F3 F5
34 central retinal artery occlusion 10.3 F2 F3
35 irak4 deficiency 10.3 F2 F5
36 red color blindness 10.3 F2 F3
37 hepadnavirus infection 10.3 F2 F3
38 hepatocellular adenoma 10.3 F2 F5
39 microcephaly 8, primary, autosomal recessive 10.3 F2 F3
40 rheumatic heart disease 10.3 F2 F3
41 dyskeratosis congenita autosomal recessive 10.3 F2 F5
42 ulcerative stomatitis 10.3 F2 F5
43 acute lymphocytic leukemia 10.3 F2 F5
44 myxomatous pattern testicular yolk sac tumor 10.3 F5 F8
45 intermediate anorectal malformation 10.3 F8 F9
46 capillary hemangioma 10.3 F2 F3
47 joint disorders 10.3 F2 F5
48 acro-pectoro-renal field defect 10.3 F8 F9
49 sacrococcygeal teratoma 10.2 F2 F5
50 multiple congenital anomalies mental retardation, growth failure and cleft lip palate 10.2 F3 F8

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



Diseases related to Factor V Deficiency

Symptoms & Phenotypes for Factor V Deficiency

Symptoms via clinical synopsis from OMIM:

54

Hematology:
bleeding episodes (epistaxis, menorrhagia, ecchymosis)
factor v deficiency
prolonged bleeding

Laboratory- Abnormalities:
prolonged activated partial thromboplastin time (aptt)
prolonged prothrombin time (pt)


Clinical features from OMIM:

227400

Human phenotypes related to Factor V Deficiency:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 menorrhagia 32 HP:0000132
3 prolonged bleeding time 32 HP:0003010
4 prolonged prothrombin time 32 HP:0008151
5 prolonged partial thromboplastin time 32 HP:0003645
6 bruising susceptibility 32 HP:0000978
7 prolonged whole-blood clotting time 32 HP:0005542
8 reduced factor v activity 32 HP:0003225

MGI Mouse Phenotypes related to Factor V Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 F2 F3 F5 F7 F9 PLAU
2 homeostasis/metabolism MP:0005376 9.5 PLAU F2 F3 F5 F7 F8
3 mortality/aging MP:0010768 9.17 F2 F3 F5 F7 F8 F9

Drugs & Therapeutics for Factor V Deficiency

Drugs for Factor V Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 145)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9005-49-6
2
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
3
Thrombin Approved Phase 4
4
Tranexamic Acid Approved Phase 4 1197-18-8 5526
5
Capecitabine Approved, Investigational Phase 4,Phase 3 154361-50-9 60953
6
Fluorouracil Approved Phase 4,Phase 3 51-21-8 3385
7 Anticoagulants Phase 4
8 calcium heparin Phase 4
9 Fibrinolytic Agents Phase 4
10 Heparin, Low-Molecular-Weight Phase 4
11 Antifibrinolytic Agents Phase 4
12 Coagulants Phase 4,Phase 1,Phase 2
13 Factor VIII Phase 4,Phase 1,Phase 2
14 Hemostatics Phase 4
15 Antimetabolites Phase 4,Phase 3
16 Antimetabolites, Antineoplastic Phase 4,Phase 3
17 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
18 Hormone Antagonists Phase 4,Phase 2
19 Hormones Phase 4,Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
21 Mitogens Phase 4
22 insulin Phase 4
23 Insulin, Globin Zinc Phase 4
24
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
25
Levoleucovorin Approved Phase 3 68538-85-2
26
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
27
rituximab Approved Phase 2, Phase 3 174722-31-7 10201696
28
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
29
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
30
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
31
Gemcitabine Approved Phase 3 95058-81-4 60750
32
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
33 Thiotepa Approved Phase 3 52-24-4 5453
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
35
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
36
Lactitol Investigational Phase 3 585-86-4 3871
37
Docetaxel Approved May 1996, Investigational Phase 3 114977-28-5 148124 9877265
38
Doxil Approved June 1999 Phase 3 31703
39 Micronutrients Phase 3
40 Trace Elements Phase 3
41 Complement System Proteins Phase 3,Phase 2
42 Bone Density Conservation Agents Phase 3
43 Vitamins Phase 3
44 Ferric Compounds Phase 3,Phase 2
45 Hematinics Phase 3,Phase 1,Phase 2
46 Vaccines Phase 3,Phase 2,Phase 1
47 Antibodies Phase 3,Phase 2,Phase 1
48 gamma-Globulins Phase 3,Phase 2
49 Immunoglobulins Phase 3,Phase 2,Phase 1
50 Immunoglobulins, Intravenous Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 74)

id Name Status NCT ID Phase Drugs
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
2 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4 aPCC, aPCC + TXA;rFVIIa, rFVIIa + TXA
3 Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients Completed NCT01641458 Phase 4
4 A Post-Marketing Study of the Immunogenicity of Somatropin (Ribosomal Deoxyribo Nucleic Acid [rDNA] Origin) Injection (Nutropin AQ®) in Children With Growth Hormone Deficiency Active, not recruiting NCT02311894 Phase 4 Somatropin
5 Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited Deficiency Completed NCT00713648 Phase 3 catridecacog
6 Intravenous High Dose Iron in Blood Donors Completed NCT01787526 Phase 3 ferric carboxymaltose;oral iron
7 Safety and Immunogenicity of Novartis Meningococcal B Vaccine When Administered to Immunocompromised Children and Adolescents Compared to Healthy Subjects. Completed NCT02141516 Phase 3
8 Multicenter Study of Long-Term Clinical Outcomes of Subcutaneous Immune Globulin IgPro20 in Subjects With Primary Immunodeficiency (Japan Study) Completed NCT01461018 Phase 3
9 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy (Japan Study) Completed NCT01199705 Phase 3
10 Follow-up Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy (Japan Study) Completed NCT01458171 Phase 3
11 Pharmacokinetics, Efficacy, and Safety Study of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01814800 Phase 3
12 Phase 2/3 Study of IGSC, 20% in PIDD Completed NCT01218438 Phase 2, Phase 3 Immune Globulin Subcutaneous (Human), 20% Solution
13 Trial Comparing Three Strategies of Vaccination Against the Virus of Hepatitis B in HIV Infected Patients Completed NCT00480792 Phase 3
14 Randomised Study Evaluating Adjuvant Chemotherapy After Resection of Stage III Colonic Adenocarcinoma in Patients of 70 and Over Recruiting NCT02355379 Phase 3 LV5FU2 or capectitabine;FOLFOX4 or XELOX;LV5FU2 or capecitabine
15 Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair Recruiting NCT02912559 Phase 3 Atezolizumab;Fluorouracil;Leucovorin Calcium;Oxaliplatin
16 Humoral Immunodeficiency With Rituximab and Therapy With Subcutaneous Ig Recruiting NCT03211065 Phase 2, Phase 3 20% subcutaneous immunoglobulin
17 High Dose Chemotherapy in Oligo-metastatic Homologous Recombination Deficient Breast Cancer Recruiting NCT01646034 Phase 3 carboplatin, thiotepa, and cyclophosphamide;chemotherapy (docetaxel, doxorubicin, cyclofosfamide, carboplatin, paclitaxel, gemcitabine)
18 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3 enoxaparine 40 mg daily;placebo
19 Immune Responses in Patients Treated With Raltegravir Withdrawn NCT00785967 Phase 3
20 Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE) Completed NCT00263887 Phase 2 Alpha1-Proteinase Inhibitor (Human);Albumin (Human) 20%, United States Pharmacopeia (USP)
21 Lexaptepid Pegol (NOX-H94) in ESA-hyporesponsive Anemia in Dialysis Patients Completed NCT02079896 Phase 1, Phase 2 Lexaptepid pegol (NOX-H94);Placebo
22 MOD-4023 (Long-Lasting Human Growth Hormone (hGH)) Study in Growth Hormone Deficient Adults (GHDA) Completed NCT01225666 Phase 2 MOD-4023;MOD-4023;MOD-4023;MOD-4023
23 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2 Recombinant Human C1 Inhibitor
24 Clinical Trial to Evaluate the Immunogenicity and Safety of an Adjuvanted A(H1N1)v Influenza Vaccine and a Non-adjuvanted A(H1N1)v Influenza Vaccine in HIV-infected Patients (ANRS 151 Hifluvac) Completed NCT01008813 Phase 2
25 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2 filgrastim
26 Study Evaluating the Efficacy and Safety of Three Formulations of Ultra-low Dose Estriol Vaginal Gel (0.005%, 0.002%, 0.0008% Estriol Vaginal Gel) for the Treatment of Vaginal Dryness in Postmenopausal Women With Vulvovaginal Atrophy Recruiting NCT02967510 Phase 2 Estriol;Placebo
27 Active Preoperative Anemia Management in Patients Undergoing Cardiac Surgery Recruiting NCT02189889 Phase 1, Phase 2 EPO;Feraheme
28 A Gene Transfer Study for Hemophilia A Recruiting NCT03003533 Phase 1, Phase 2
29 A Gene Therapy Study for Hemophilia B Recruiting NCT02484092 Phase 1, Phase 2
30 Safety and Efficacy Study of Vaccine Schedule With Ad26.Mos.HIV and MVA-Mosaic in Human Immunodeficiency Virus (HIV)-Infected Adults Recruiting NCT02919306 Phase 1, Phase 2 Placebo
31 Daratumumab Therapy for Patients With Refractory or Relapsed AL Amyloidosis Recruiting NCT02816476 Phase 2 Daratumumab
32 Safety, Tolerability and Immunogenicity Study of Different Vaccine Regimens of Trivalent Ad26.Mos.HIV or Tetravalent Ad26.Mos4.HIV Along With Clade C Glycoprotein (gp)140 in Healthy Human Immunodeficiency Virus (HIV)-Uninfected Adults Recruiting NCT02788045 Phase 2 Placebo
33 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2 Plerixafor
34 Safety, Tolerability and Immunogenicity Study of 3 Prime-boost Regimens for Ebola Vaccines Ad26.ZEBOV/MVA-BN-Filo in Healthy Adults, Children and Human Immunodeficiency Virus Positive (HIV+) Adults Recruiting NCT02564523 Phase 2
35 Study of Pembrolizumab (MK-3475) as Monotherapy in Participants With Previously-Treated Locally Advanced Unresectable or Metastatic Colorectal Cancer (MK-3475-164/KEYNOTE-164) Active, not recruiting NCT02460198 Phase 2
36 Durvalumab, Cetuximab and Radiotherapy in Head Neck Cancer Not yet recruiting NCT03051906 Phase 2
37 Ferinject® in Patient With Thrombocytosis Secondary to Inflammatory Bowel Disease (IBD) Terminated NCT00882414 Phase 2 FERINJECT® (Ferric carboxymaltose);Placebo
38 Investigation of V520 in an HIV Vaccine Proof-of-Concept Study (V520-023) Terminated NCT00095576 Phase 2 Comparator: placebo
39 Alipogene Tiparvovec for the Treatment of LPLD Patients Withdrawn NCT02904772 Phase 2 alipogene tiparvovec;Prednisolone;Cyclosporins;Mycophenolate mofetil
40 Role of HIV on Glutathione Synthesis and Oxidative Stress Completed NCT01355198 Phase 1
41 Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male Subjects Completed NCT01561417 Phase 1 activated recombinant human factor VII;activated recombinant human factor VII
42 Dose-Escalation Study on Safety and Immunogenicity of VPM1002 in Comparison With BCG in Healthy Male Volunteers Completed NCT00749034 Phase 1
43 A Phase I Trial of HIV-1 C4-V3 Polyvalent Peptide Vaccine in HIV-1 Infected Persons Completed NCT00001060 Phase 1
44 A Phase I Safety and Immunogenicity Trial of UBI SynVac (HIV-1 MN Octameric V3 Peptide Vaccine) Completed NCT00000775 Phase 1
45 Three-Dose Regimen of MRKAd5+6 Trigene (V526) in Healthy Adults (V526-001)(COMPLETED) Completed NCT00850616 Phase 1
46 HIV Vaccine Study in HIV Positive Patients Completed NCT01071031 Phase 1
47 A Worldwide, Phase I, Dose-Escalating Study of a 3-Dose Regimen of the MRKAd5 (Clade B) Vaccine in Healthy Adults (V520-018) Completed NCT00849732 Phase 1
48 A Study of Safety, Tolerability, and Immunogenicity of the MRKAd5 Gag/Pol/Nef Vaccine in Healthy Adults (V520-016) Completed NCT00849680 Phase 1
49 A Phase I Safety and Immunogenicity Trial of HIV-1 gp120 C4-V3 Hybrid Polyvalent Peptide Immunogen Mixed in Mineral Oil Containing Mannose Mono-Oleate (IFA) Completed NCT00000886 Phase 1
50 A Phase I/II Safety and Immunogenicity Trial of UBI Microparticulate Monovalent (HIV-1 MN) Branched Peptide Vaccine in HIV-1 Seronegative Human Subjects Completed NCT00002428 Phase 1

Search NIH Clinical Center for Factor V Deficiency

Cochrane evidence based reviews: factor v deficiency

Genetic Tests for Factor V Deficiency

Genetic tests related to Factor V Deficiency:

id Genetic test Affiliating Genes
1 Factor V Deficiency 29 24 F5

Anatomical Context for Factor V Deficiency

MalaCards organs/tissues related to Factor V Deficiency:

39
Lung, Skin, Colon, Bone, Testes, Breast, T Cells

Publications for Factor V Deficiency

Articles related to Factor V Deficiency:

(show top 50) (show all 188)
id Title Authors Year
1
A Confounding Case of Inherited Factor V Deficiency Complicated by Inhibitors at First Presentation. ( 28503128 )
2017
2
Haemoperitoneum due to ruptured ovarian cyst in a 13-year-old girl with factor V deficiency- A case report. ( 28138193 )
2017
3
Phenotype Report on Patients with Congenital Factor V Deficiency in Southern Iran in the recent ten years experience. ( 28270373 )
2017
4
Major bleeding as spontaneous haemoperitoneum in a patient with factor V deficiency. ( 28111894 )
2017
5
Transfusion management of factor V deficiency: three case reports and review of the literature. ( 27125565 )
2016
6
Hip Replacement Surgery in 14-Year-Old Girl with Factor V Deficiency: Haemostatic Treatment and Thromboprophylaxis. ( 27872768 )
2016
7
Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients. ( 26709270 )
2016
8
Laparoscopic surgery in a woman with factor V deficiency: revisiting platelet factor V. ( 27444974 )
2016
9
Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome. ( 26839474 )
2016
10
Comment on transfusion management of Factor V deficiency. ( 27933625 )
2016
11
Miscarriage and recurrent miscarriage in patients with congenital factor V deficiency: a report of six cases in Iran. ( 26980222 )
2016
12
Transient Factor V deficiency associated with Factor V-immunoglobulin complexes but without evidence of a classical inhibitor. ( 27664390 )
2016
13
Acquired factor V deficiency in a patient with a urinary tract infection presenting with haematuria followed by multiple haemorrhages with an extremely low level of factor V inhibitor: a case report and review of the literature. ( 27428013 )
2016
14
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. ( 25470420 )
2015
15
Platelets and platelet-derived factor Va confer hemostatic competence in complete factor V deficiency. ( 25896652 )
2015
16
Successful laparoscopic common bile duct exploration in a patient with factor V deficiency, a case report and review of literature. ( 26550406 )
2015
17
Acquired factor V deficiency in myeloproliferative neoplasms: a Mayo Clinic series of 33 patients. ( 25854415 )
2015
18
The use of fresh frozen plasma for reproduction in severe factor V deficiency. ( 26152018 )
2015
19
Refractory Epistaxis due to Severe Factor V Deficiency with Inhibitor. ( 26346326 )
2015
20
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. ( 25438872 )
2015
21
Recurrent hemoperitoneum secondary to haemorrhage from the corpus luteum unmasks factor V deficiency. ( 25886835 )
2015
22
Public Health Problems related to factor V deficiency in southeast of Iran. ( 25250269 )
2014
23
Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient. ( 24675695 )
2014
24
Acquired factor V deficiency in a patient without evidence of a classical inhibitor. ( 24118596 )
2014
25
Managing Menorrhagia in a Familial Case of Factor V Deficiency. ( 25256869 )
2014
26
Congenital Factor V Deficiency: Comparison of the Severity of Clinical Presentations among Patients with Rare Bleeding Disorders. ( 25277779 )
2014
27
Management of bleeding in severe factor V deficiency with a factor V inhibitor. ( 24517203 )
2014
28
Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency. ( 23662219 )
2013
29
Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation. ( 24085767 )
2013
30
Successful delivery in patients with severe congenital factor V deficiency: a study of five homozygous patients. ( 23746195 )
2013
31
Use of pharmacokinetic modelling to individualize FFP dosing in factor V deficiency. ( 23173558 )
2013
32
Successful treatment with thalidomide of a patient with congenital factor V deficiency and factor V inhibitor with recurrent gastrointestinal bleeding from small bowel arteriovenous malformations. ( 23171429 )
2013
33
Factor v deficiency associated with congenital cardiac disorder and intracranial hemorrage. ( 24426348 )
2013
34
Factor V Deficiency: A Subtle Presentation. ( 23881482 )
2013
35
Parahemophilia: new insights into factor v deficiency. ( 23893775 )
2013
36
Peripartum anesthetic management of a parturient with inherited factor v deficiency. ( 25612185 )
2013
37
Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation. ( 23616041 )
2013
38
Cavum Vergae Bleed in a Term Neonate with Severe Factor V Deficiency. ( 24388321 )
2013
39
Platelet factor V levels in moderate to severe congenital factor V deficiency. ( 22176589 )
2012
40
Acquired factor V deficiency and mini literature review. ( 21910794 )
2012
41
Severe factor V deficiency in two brothers with different clinical presentations. ( 22758216 )
2012
42
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency. ( 21777354 )
2012
43
Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation. ( 21647534 )
2011
44
Gene analysis and prenatal diagnosis for two families of congenital factor V deficiency. ( 20722745 )
2011
45
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency. ( 21614419 )
2011
46
Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. ( 21320286 )
2011
47
Successful mitral valve repair in a patient with factor V deficiency. ( 20695908 )
2011
48
Extraction of four wisdom teeth in a patient with congenital factor V deficiency hemophilia. ( 21669355 )
2011
49
Successful fertility management of a patient with factor V deficiency: planned transfusion of fresh frozen plasma under infertility treatment. ( 21292261 )
2011
50
Inherited and acquired factor V deficiency. ( 21245750 )
2011

Variations for Factor V Deficiency

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

71
id Symbol AA change Variation ID SNP ID
1 F5 p.Tyr1730Cys VAR_032700 rs118203907
2 F5 p.Arg2102Cys VAR_032701 rs118203910

ClinVar genetic disease variations for Factor V Deficiency:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 F5 F5, 8-BP DEL, NT1131 deletion Pathogenic
2 F5 NM_000130.4(F5): c.1601G> A (p.Arg534Gln) single nucleotide variant risk factor rs6025 GRCh37 Chromosome 1, 169519049: 169519049
3 F5 F5, 4-BP DEL, EX13 deletion Pathogenic
4 F5 F5, 4-BP INS, 2805ATTG insertion Pathogenic
5 F5 NM_000130.4(F5): c.5189A> G (p.Tyr1730Cys) single nucleotide variant Pathogenic rs118203907 GRCh37 Chromosome 1, 169500043: 169500043
6 F5 NM_000130.4(F5): c.2401C> T (p.Gln801Ter) single nucleotide variant Pathogenic rs118203908 GRCh37 Chromosome 1, 169511927: 169511927
7 F5 NM_000130.4(F5): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs118203909 GRCh37 Chromosome 1, 169510847: 169510847
8 F5 F5, 1-BP DEL, 2952T deletion Pathogenic
9 F5 F5, 1-BP INS, 5493G insertion Pathogenic
10 F5 NM_000130.4(F5): c.6304C> T (p.Arg2102Cys) single nucleotide variant Pathogenic rs118203910 GRCh37 Chromosome 1, 169487691: 169487691
11 PLAU NC_000010.11: g.73899258_73977195dup77938 duplication Pathogenic GRCh37 Chromosome 10, 75659016: 75736953
12 F5 NM_000130.4(F5): c.2218C> T (p.Arg740Ter) single nucleotide variant Likely pathogenic rs757953549 GRCh37 Chromosome 1, 169512110: 169512110

Expression for Factor V Deficiency

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

Pathways for Factor V Deficiency

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 F2 F3 F5 F7 F8 F9
2
Show member pathways
12.35 F2 F3 F5 F7 F8 F9
3
Show member pathways
11.71 F2 F3 F5 F7 F8 F9
4
Show member pathways
11.58 F2 F7 F9
5 11.31 F2 F3 F5 F7 F8 F9
6 10.67 F2 F7 F9

GO Terms for Factor V Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.91 F2 F3 F5 F7 F8 F9
2 extracellular region GO:0005576 9.7 F2 F3 F5 F7 F8 F9
3 Golgi lumen GO:0005796 9.5 F2 F7 F9
4 extracellular space GO:0005615 9.5 F2 F3 F5 F7 F8 F9
5 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.46 F5 F8
6 platelet alpha granule lumen GO:0031093 9.43 F5 F8
7 ER to Golgi transport vesicle GO:0030134 9.4 F5 F8
8 serine-type peptidase complex GO:1905286 9.26 F3 F7
9 endoplasmic reticulum lumen GO:0005788 9.02 F2 F5 F7 F8 F9

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.84 F2 F7 F9 PLAU
2 positive regulation of cell migration GO:0030335 9.7 F3 F7 PLAU
3 ER to Golgi vesicle-mediated transport GO:0006888 9.65 F2 F5 F7 F8 F9
4 signal peptide processing GO:0006465 9.58 F2 F7 F9
5 COPII vesicle coating GO:0048208 9.57 F5 F8
6 protein processing GO:0016485 9.56 F3 F7
7 acute-phase response GO:0006953 9.55 F2 F8
8 blood coagulation, intrinsic pathway GO:0007597 9.54 F2 F8 F9
9 fibrinolysis GO:0042730 9.51 F2 PLAU
10 peptidyl-glutamic acid carboxylation GO:0017187 9.5 F2 F7 F9
11 blood coagulation GO:0007596 9.5 F2 F3 F5 F7 F8 F9
12 positive regulation of blood coagulation GO:0030194 9.49 F2 F7
13 positive regulation of positive chemotaxis GO:0050927 9.48 F3 F7
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F3 F7
15 response to vitamin K GO:0032571 9.43 F5 F7
16 blood coagulation, extrinsic pathway GO:0007598 9.33 F3 F7 F9
17 hemostasis GO:0007599 9.17 F2 F3 F5 F7 F8 F9

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

id Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.46 F2 F7 F9 PLAU
2 copper ion binding GO:0005507 9.26 F5 F8
3 serine-type peptidase activity GO:0008236 9.26 F2 F7 F9 PLAU
4 serine-type endopeptidase activity GO:0004252 9.02 F2 F3 F7 F9 PLAU

Sources for Factor V Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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