FA5D
MCID: FCT006
MIFTS: 57

Factor V Deficiency (FA5D) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor V Deficiency

Aliases & Descriptions for Factor V Deficiency:

Name: Factor V Deficiency 54 12 50 24 25 66 13 42 14 69
Parahemophilia 24 25 56 66
Proaccelerin Deficiency 12 25 56
Owren Disease 25 56 66
Quebec Platelet Disorder 66 69
Labile Factor Deficiency 12 25
Factor 5 Deficiency 66 29
Hereditary Hypoproaccelerinaemia 12
Congenital Factor V Deficiency 56
Owren Parahemophilia 66
Deficiency, Labile 12
Owren's Disease 25
Fa5d 66

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;

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 thrombophilia due to activated protein c resistance and myeloproliferative neoplasm, and has symptoms including epistaxis, bruising susceptibility 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 whole blood, and related phenotype is homeostasis/metabolism.

NIH Rare Diseases : 50 factor v deficiency is an inherited blood disorder that involves 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 : 66 Factor V deficiency: A blood coagulation disorder leading to a hemorrhagic diathesis known as parahemophilia.

Wikipedia : 71 Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as... 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 141)
id Related Disease Score Top Affiliating Genes
1 thrombophilia due to activated protein c resistance 30.9 F2 F3 F5 F7
2 myeloproliferative neoplasm 28.9 F2 F3 F8
3 quebec platelet disorder 12.6
4 factor v and factor viii, combined deficiency of 10.9
5 combined factor v and viii deficiency 10.9
6 bernard-soulier syndrome, type c 10.9
7 neuronopathy, distal hereditary motor, type iid 10.1 F3 F5
8 central congenital hypothyroidism 10.1 F3 F5
9 congenital insensitivity to pain with severe intellectual disability 10.1 F2 F5
10 vascular erectile tumor 10.1 F2 F5
11 lubinsky syndrome 10.1 F2 F5
12 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F2 F5
13 oxyphilic adenoma 10.1 F2 F5
14 left-right axis malformations 10.1 F2 F5
15 lymphocytic colitis 10.1 F2 F5
16 photosensitive epilepsy 10.1 F2 F5
17 hemarthrosis 10.1 F2 F3
18 porphyria 10.1 F2 F7
19 influenza 10.1 F2 F3
20 cryptosporidiosis 10.1 F2 F5
21 angular blepharoconjunctivitis 10.1 F2 F5
22 houlston ironton temple syndrome 10.1 F2 F5
23 chorioretinal scar 10.1 F2 F3
24 mixed hepatoblastoma 10.1 F2 F3
25 prostatic hypertrophy 10.1 F2 F3
26 eagle syndrome 10.1 F2 F5
27 dmd-related dilated cardiomyopathy 10.1 F2 F3
28 spinal cord lipoma 10.1 F2 F3
29 sporotrichosis 10.1 F2 F3
30 villous adenoma 10.1 F2 F5
31 midline cystocele 10.1 F2 F3
32 chronic inflammatory demyelinating polyneuritis 10.1 F2 F3
33 ophthalmia neonatorum 10.1 F2 F5
34 brain stem cancer 10.1 F2 F3
35 ductal carcinoma in situ 10.1 F2 F3
36 spinal multifocal clear cell meningioma 10.1 F3 F5
37 epstein-barr virus hepatitis 10.1 F2 F3
38 vaginal discharge 10.1 F2 F5
39 mobitz type ii atrioventricular block 10.1 F2 F3
40 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.1 F2 F3
41 artery disease 10.1 F2 F3
42 invasive pneumococcal disease, recurrent isolated, 1 10.1 F2 F5
43 red color blindness 10.0 F2 F3
44 hereditary alpha tryptasemia syndrome 10.0 F2 F3
45 erythrocytosis, familial, 4 10.0 F5 F8
46 scar contracture 10.0 F2 F5
47 central retinal artery occlusion 10.0 F2 F3
48 capillary hemangioma 10.0 F2 F3
49 hennekam lymphangiectasia-lymphedema syndrome 2 10.0 F2 F3
50 bladder hepatoid adenocarcinoma 10.0 F5 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 by clinical synopsis from OMIM:

227400

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 bruising susceptibility 32 HP:0000978
3 prolonged bleeding time 32 HP:0003010
4 menorrhagia 32 HP:0000132
5 prolonged partial thromboplastin time 32 HP:0003645
6 prolonged prothrombin time 32 HP:0008151
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 homeostasis/metabolism MP:0005376 9.02 F2 F3 F5 F7 F8

Drugs & Therapeutics for Factor V Deficiency

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

(show top 50) (show all 243)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9041-08-1
2
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Capecitabine Approved, Investigational Phase 4,Phase 3 154361-50-9 60953
5
Fluorouracil Approved Phase 4,Phase 3,Phase 2 51-21-8 3385
6
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 50-18-0, 6055-19-2 2907
7
Cytarabine Approved, Investigational Phase 4,Phase 2,Phase 3 147-94-4 6253
8
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
9
Methotrexate Approved Phase 4,Phase 2,Phase 3 1959-05-2, 59-05-2 126941
10
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
11
rituximab Approved Phase 4,Phase 1,Phase 2 174722-31-7 10201696
12
Vincristine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 2068-78-2, 57-22-7 5978
13 Anticoagulants Phase 4
14 calcium heparin Phase 4
15 Fibrinolytic Agents Phase 4
16 Heparin, Low-Molecular-Weight Phase 4
17 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
18 Antifibrinolytic Agents Phase 4
19 Coagulants Phase 4,Phase 1,Phase 2
20 Factor VIII Phase 4,Phase 1,Phase 2
21 Hemostatics Phase 4
22 Thrombin Phase 4
23 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
24 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2,Phase 1
25 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Cortisol succinate Phase 4
27 Hydrocortisone 17-butyrate 21-propionate Phase 4
28 Hydrocortisone acetate Phase 4
29 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
30 Hormones Phase 4,Phase 3,Phase 2,Phase 1
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
32 insulin Phase 4
33 Insulin, Globin Zinc Phase 4
34 Mitogens Phase 4
35
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
36
Iron Approved Phase 3,Phase 1,Phase 2 7439-89-6 23925
37
Bortezomib Approved, Investigational Phase 3,Phase 2 179324-69-7 387447 93860
38
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 50-02-2 5743
39
Melphalan Approved Phase 3,Phase 2 148-82-3 4053 460612
40
Lenograstim Approved Phase 3,Phase 2,Phase 1 135968-09-1
41
Phenol Approved, Experimental Phase 3 108-95-2 996
42
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 83-43-2 6741
43
Prednisolone Approved, Vet_approved Phase 2, Phase 3,Phase 1 50-24-8 5755
44
Lenalidomide Approved Phase 3,Phase 2 191732-72-6 216326
45
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
46
Doxorubicin Approved, Investigational Phase 3,Phase 1,Phase 2 23214-92-8 31703
47
Gemcitabine Approved Phase 3,Phase 2 95058-81-4 60750
48
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
49
Thiotepa Approved Phase 3 52-24-4 5453
50
Cladribine Approved, Investigational Phase 2, Phase 3 4291-63-8 20279

Interventional clinical trials:

(show top 50) (show all 128)
id Name Status NCT ID Phase
1 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4
2 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4
3 Pharmacology-driven Dosing of Fluoropyrimidines in Cancer Patients Completed NCT01641458 Phase 4
4 LINFOTARGAM: Treatment With Chemotherapy Plus Rituximab and Highly Active Antiretroviral Therapy in Patients With Diffuse Large B Cell Lymphoma and Infection With the Human Immunodeficiency Virus (HIV) Completed NCT00466258 Phase 4
5 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
6 Evaluation of Plasmatic Levels of Busulfan in Patients Undergoing Hematopoietic Stem Cell Transplantation Unknown status NCT01800643 Phase 2, Phase 3
7 Evaluation of Recombinant Factor XIII for Prevention of Bleeding in Patients With FXIII Inherited Deficiency Completed NCT00713648 Phase 3
8 Intravenous High Dose Iron in Blood Donors Completed NCT01787526 Phase 3
9 Safety and Immunogenicity of Novartis Meningococcal B Vaccine When Administered to Immunocompromised Children and Adolescents Compared to Healthy Subjects. Completed NCT02141516 Phase 3
10 Multicenter Study of Long-Term Clinical Outcomes of Subcutaneous Immune Globulin IgPro20 in Subjects With Primary Immunodeficiency (Japan Study) Completed NCT01461018 Phase 3
11 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy (Japan Study) Completed NCT01199705 Phase 3
12 Follow-up Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy (Japan Study) Completed NCT01458171 Phase 3
13 Pharmacokinetics, Efficacy, and Safety Study of RI-002 (IGIV) in Subjects With Primary Immunodeficiency Diseases (PIDD) Completed NCT01814800 Phase 3
14 Phase 2/3 Study of IGSC, 20% in PIDD Completed NCT01218438 Phase 2, Phase 3
15 Trial Comparing Three Strategies of Vaccination Against the Virus of Hepatitis B in HIV Infected Patients Completed NCT00480792 Phase 3
16 Trial Comparing Two Strategies of Vaccination Against Hepatitis B in HIV-infected Patients Non Responding to Primary Immunization (B-BOOST) Completed NCT00670839 Phase 3
17 Serological Response to Antipneumococcal Vaccination and Impact on Streptococcus Pneumoniae Nasal Carriage in HIV Adults Completed NCT02123433 Phase 3
18 A Trial for Systemic Light-chain (AL) Amyloidosis Completed NCT01277016 Phase 3
19 Immunogenicity, Safety, and Tolerability of MF59-Adjuvanted Versus Non-Adjuvanted Influenza Vaccines in Patients With HIV-1 Infection Completed NCT01032408 Phase 3
20 Bortezomib and Dexamethasone Followed by ASCT Compared With ASCT Alone in Treating Patients With AL Amyloidosis Completed NCT01998503 Phase 3
21 Pneumococcal Conjugate Vaccination in HIV in Comparison to Polysaccharide Vaccine Boosting Completed NCT00622843 Phase 3
22 Randomised Study Evaluating Adjuvant Chemotherapy After Resection of Stage III Colonic Adenocarcinoma in Patients of 70 and Over Recruiting NCT02355379 Phase 3
23 High Dose Chemotherapy in Oligo-metastatic Homologous Recombination Deficient Breast Cancer Recruiting NCT01646034 Phase 3
24 LCH-IV, International Collaborative Treatment Protocol for Children and Adolescents With Langerhans Cell Histiocytosis Recruiting NCT02205762 Phase 2, Phase 3
25 A Phase III Trial Comparing Two Dose-dense, Dose-intensified Approaches (ETC and PM(Cb)) for Neoadjuvant Treatment of Patients With High-risk Early Breast Cancer (GeparOcto) Recruiting NCT02125344 Phase 3
26 Randomized Multicenter Phase II/III Study With Adjuvant Gemcitabine Versus Neoadjuvant / Adjuvant FOLFIRINOX for Resectable Pancreas Carcinoma Recruiting NCT02172976 Phase 2, Phase 3
27 Study of Dexamethasone Plus IXAZOMIB (MLN9708) or Physicians Choice of Treatment in Relapsed or Refractory Systemic Light Chain (AL) Amyloidosis Recruiting NCT01659658 Phase 3
28 An Open-label Randomized Multicenter Phase III Clinical Study Comparing Safety and Efficacy of Algeron (Cepeginterferon Alfa-2b) and and PegIntron (Peginterferon Alfa-2b) in Combination With Ribavirin as Combined Treatment of Chronic Hepatitis C in Human Active, not recruiting NCT02103439 Phase 3
29 Prevention of Unexplained Recurrent Abortion by Enoxaparine Terminated NCT00740545 Phase 3
30 Immune Responses in Patients Treated With Raltegravir Withdrawn NCT00785967 Phase 3
31 Safety of and Immunogenicity to an H1N1 Influenza Vaccine in HIV-infected Adults Unknown status NCT01155037 Phase 2
32 Alpha-1-Antitrypsin (AAT) To Treat Emphysema In AAT-Deficient Patients (EXACTLE) Completed NCT00263887 Phase 2
33 Lexaptepid Pegol (NOX-H94) in ESA-hyporesponsive Anemia in Dialysis Patients Completed NCT02079896 Phase 1, Phase 2
34 MOD-4023 (Long-Lasting Human Growth Hormone (hGH)) Study in Growth Hormone Deficient Adults (GHDA) Completed NCT01225666 Phase 2
35 A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration Completed NCT00851409 Phase 2
36 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
37 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
38 Study of Reduced Toxicity Myeloablative Conditioning Regimen for Wiskott-Aldrich Syndrome (WAS) Completed NCT00885833 Phase 1, Phase 2
39 A Trial of Treatment With Lenalidomide-Melphalan-Dexamethasone in Patients With Primary (AL) Amyloidosis Completed NCT00883623 Phase 2
40 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2
41 High-Dose Melphalan Followed by Peripheral Stem Cell Transplant in Treating Patients With Amyloidosis Completed NCT00002810 Phase 2
42 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
43 Active Preoperative Anemia Management in Patients Undergoing Cardiac Surgery Recruiting NCT02189889 Phase 1, Phase 2
44 A Gene Transfer Study for Hemophilia A Recruiting NCT03003533 Phase 1, Phase 2
45 A Gene Therapy Study for Hemophilia B Recruiting NCT02484092 Phase 1, Phase 2
46 Daratumumab Therapy for Patients With Refractory or Relapsed AL Amyloidosis Recruiting NCT02816476 Phase 2
47 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
48 Alipogene Tiparvovec for the Treatment of LPLD Patients Recruiting NCT02904772 Phase 2
49 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2
50 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

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, Whole Blood, Testes, Placenta

Publications for Factor V Deficiency

Articles related to Factor V Deficiency:

(show top 50) (show all 187)
id Title Authors Year
1
Phenotype Report on Patients with Congenital Factor V Deficiency in Southern Iran in the recent ten years experience. ( 28270373 )
2017
2
Major bleeding as spontaneous haemoperitoneum in a patient with factor V deficiency. ( 28111894 )
2017
3
Haemoperitoneum due to ruptured ovarian cyst in a 13-year-old girl with factor V deficiency- A case report. ( 28138193 )
2017
4
Factor V Deficiency in Korean Patients: Clinical and Laboratory Features, Treatment, and Outcome. ( 26839474 )
2016
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
Comment on transfusion management of Factor V deficiency. ( 27933625 )
2016
8
Genetic Confirmation of Congenital Factor V Deficiency in Korean Patients. ( 26709270 )
2016
9
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
10
Laparoscopic surgery in a woman with factor V deficiency: revisiting platelet factor V. ( 27444974 )
2016
11
Transient Factor V deficiency associated with Factor V-immunoglobulin complexes but without evidence of a classical inhibitor. ( 27664390 )
2016
12
Miscarriage and recurrent miscarriage in patients with congenital factor V deficiency: a report of six cases in Iran. ( 26980222 )
2016
13
Platelets and platelet-derived factor Va confer hemostatic competence in complete factor V deficiency. ( 25896652 )
2015
14
The use of fresh frozen plasma for reproduction in severe factor V deficiency. ( 26152018 )
2015
15
Refractory Epistaxis due to Severe Factor V Deficiency with Inhibitor. ( 26346326 )
2015
16
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency. ( 25470420 )
2015
17
Recurrent hemoperitoneum secondary to haemorrhage from the corpus luteum unmasks factor V deficiency. ( 25886835 )
2015
18
Acquired factor V deficiency in myeloproliferative neoplasms: a Mayo Clinic series of 33 patients. ( 25854415 )
2015
19
Identification of a novel large deletion in a patient with severe factor V deficiency using an in-house F5 MLPA assay. ( 25438872 )
2015
20
Successful laparoscopic common bile duct exploration in a patient with factor V deficiency, a case report and review of literature. ( 26550406 )
2015
21
Acquired factor V deficiency in a patient without evidence of a classical inhibitor. ( 24118596 )
2014
22
Congenital Factor V Deficiency: Comparison of the Severity of Clinical Presentations among Patients with Rare Bleeding Disorders. ( 25277779 )
2014
23
Management of bleeding in severe factor V deficiency with a factor V inhibitor. ( 24517203 )
2014
24
Managing Menorrhagia in a Familial Case of Factor V Deficiency. ( 25256869 )
2014
25
Public Health Problems related to factor V deficiency in southeast of Iran. ( 25250269 )
2014
26
Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient. ( 24675695 )
2014
27
Factor v deficiency associated with congenital cardiac disorder and intracranial hemorrage. ( 24426348 )
2013
28
Cavum Vergae Bleed in a Term Neonate with Severe Factor V Deficiency. ( 24388321 )
2013
29
Peripartum anesthetic management of a parturient with inherited factor v deficiency. ( 25612185 )
2013
30
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
31
Antisense-based RNA therapy of factor V deficiency: in vitro and ex vivo rescue of a F5 deep-intronic splicing mutation. ( 24085767 )
2013
32
Use of pharmacokinetic modelling to individualize FFP dosing in factor V deficiency. ( 23173558 )
2013
33
Successful delivery in patients with severe congenital factor V deficiency: a study of five homozygous patients. ( 23746195 )
2013
34
Factor V Deficiency: A Subtle Presentation. ( 23881482 )
2013
35
Parahemophilia: new insights into factor v deficiency. ( 23893775 )
2013
36
Molecular basis of coagulation factor V deficiency caused by the R1698W inter-domain mutation. ( 23616041 )
2013
37
Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency. ( 23662219 )
2013
38
Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency. ( 21777354 )
2012
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
Extraction of four wisdom teeth in a patient with congenital factor V deficiency hemophilia. ( 21669355 )
2011
43
Successful fertility management of a patient with factor V deficiency: planned transfusion of fresh frozen plasma under infertility treatment. ( 21292261 )
2011
44
Successful mitral valve repair in a patient with factor V deficiency. ( 20695908 )
2011
45
Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. ( 21320286 )
2011
46
Inherited and acquired factor V deficiency. ( 21245750 )
2011
47
Molecular basis of hereditary factor V deficiency in India: identification of four novel mutations and their genotype-phenotype correlation. ( 21647534 )
2011
48
Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency. ( 21614419 )
2011
49
Gene analysis and prenatal diagnosis for two families of congenital factor V deficiency. ( 20722745 )
2011
50
Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions. ( 20028426 )
2010

Variations for Factor V Deficiency

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

66
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 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 F5 F5, 4-BP DEL, EX13 deletion Pathogenic
2 F5 F5, 4-BP INS, 2805ATTG insertion Pathogenic
3 F5 F5, 8-BP DEL, NT1131 deletion Pathogenic
4 F5 NM_000130.4(F5): c.5189A> G (p.Tyr1730Cys) single nucleotide variant Pathogenic rs118203907 GRCh37 Chromosome 1, 169500043: 169500043
5 F5 NM_000130.4(F5): c.2401C> T (p.Gln801Ter) single nucleotide variant Pathogenic rs118203908 GRCh37 Chromosome 1, 169511927: 169511927
6 F5 NM_000130.4(F5): c.3481C> T (p.Arg1161Ter) single nucleotide variant Pathogenic rs118203909 GRCh37 Chromosome 1, 169510847: 169510847
7 F5 F5, 1-BP DEL, 2952T deletion Pathogenic
8 F5 F5, 1-BP INS, 5493G insertion Pathogenic
9 F5 NM_000130.4(F5): c.6304C> T (p.Arg2102Cys) single nucleotide variant Pathogenic rs118203910 GRCh37 Chromosome 1, 169487691: 169487691
10 PLAU NC_000010.11: g.73899258_73977195dup77938 duplication Pathogenic GRCh37 Chromosome 10, 75659016: 75736953
11 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
12.73 F2 F3 F5 F7 F8
2
Show member pathways
12.28 F2 F3 F5 F7 F8
3
Show member pathways
11.56 F2 F3 F5 F7 F8
4
Show member pathways
11.4 F2 F7
5 11.16 F2 F3 F5 F7 F8
6 10.5 F2 F7

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 extracellular region GO:0005576 9.65 F2 F3 F5 F7 F8
2 extracellular space GO:0005615 9.55 F2 F3 F5 F7 F8
3 Golgi lumen GO:0005796 9.43 F2 F7
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.4 F5 F8
5 platelet alpha granule lumen GO:0031093 9.37 F5 F8
6 ER to Golgi transport vesicle GO:0030134 9.32 F5 F8
7 endoplasmic reticulum lumen GO:0005788 9.26 F2 F5 F7 F8
8 serine-type peptidase complex GO:1905286 8.62 F3 F7

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 9.8 F2 F5 F7 F8
2 platelet activation GO:0030168 9.58 F2 F5 F8
3 positive regulation of protein kinase B signaling GO:0051897 9.57 F3 F7
4 protein processing GO:0016485 9.56 F3 F7
5 COPII vesicle coating GO:0048208 9.55 F5 F8
6 acute-phase response GO:0006953 9.54 F2 F8
7 signal peptide processing GO:0006465 9.52 F2 F7
8 blood coagulation, intrinsic pathway GO:0007597 9.51 F2 F8
9 positive regulation of blood coagulation GO:0030194 9.48 F2 F7
10 positive regulation of positive chemotaxis GO:0050927 9.46 F3 F7
11 ER to Golgi vesicle-mediated transport GO:0006888 9.46 F2 F5 F7 F8
12 peptidyl-glutamic acid carboxylation GO:0017187 9.43 F2 F7
13 blood coagulation, extrinsic pathway GO:0007598 9.37 F3 F7
14 blood coagulation GO:0007596 9.35 F2 F3 F5 F7 F8
15 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.32 F3 F7
16 response to vitamin K GO:0032571 9.26 F5 F7
17 hemostasis GO:0007599 9.02 F2 F3 F5 F7 F8

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

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.02 F2 F3 F5 F7 F8
2 copper ion binding GO:0005507 8.96 F5 F8

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
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37 KEGG
38 LifeMap
40 MedGen
42 MeSH
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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