MCID: FCT001
MIFTS: 55

Factor Viii Deficiency

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Factor Viii Deficiency

MalaCards integrated aliases for Factor Viii Deficiency:

Name: Factor Viii Deficiency 56 12 74 29 15 71
Hemophilia a 12 43 71
Autosomal Hemophilia a 56 71
Congenital Factor Viii Disorder 12
Subhemophilia 12
Factor Viii 6

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
? von willebrand disease variant


HPO:

31
factor viii deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12134
OMIM 56 134500
ICD9CM 34 286.0
MeSH 43 D006467
NCIt 49 C27146
SNOMED-CT 67 28293008
ICD10 32 D66
MedGen 41 C3494187
UMLS 71 C0019069 C3494186 C3494187

Summaries for Factor Viii Deficiency

Disease Ontology : 12 A X-linked recessive disease that has material basis in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.

MalaCards based summary : Factor Viii Deficiency, also known as hemophilia a, is related to hemophilia and hemophilia a. An important gene associated with Factor Viii Deficiency is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are abnormal bleeding and reduced factor viii activity

Wikipedia : 74 Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased... more...

More information from OMIM: 134500

Related Diseases for Factor Viii Deficiency

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

(show top 50) (show all 800)
# Related Disease Score Top Affiliating Genes
1 hemophilia 33.0 F9 F8 F7
2 hemophilia a 32.7 VWF F9 F8A1 F8 F7 F3
3 von willebrand disease, type 3 32.5 VWF F8
4 von willebrand disease, type 1 32.0 VWF F8 F3 F2
5 acquired hemophilia a 31.7 F9 F8A1 F8 F5 F3 F11
6 factor v and factor viii, combined deficiency of, 2 30.7 MCFD2 LMAN1 F8 F5
7 purpura 30.4 VWF F3 F2
8 lymphangiosarcoma 30.4 VWF F8
9 varicose veins 30.3 VWF F5 F2
10 retinal vein occlusion 30.3 F5 F3 F2
11 protein c deficiency 30.2 F9 F5 F2
12 homocysteinemia 30.2 VWF F5 F2
13 fainting 30.2 VWF F8
14 von willebrand disease, type 2 30.2 VWF F8
15 pseudo-von willebrand disease 30.2 VWF F8
16 hemangioma 30.2 VWF F3 F2
17 esophageal varix 30.2 F3 F2
18 paracetamol poisoning 30.2 F5 F2
19 hemophilia b 30.1 VWF ICOSLG F9 F8 F7 F3
20 post-thrombotic syndrome 30.1 F8 F5 F3 F2
21 thrombasthenia 30.1 F5 F3 F2
22 venous insufficiency 30.0 VWF F5 F2
23 thrombocytosis 30.0 VWF F3 F2
24 hemopericardium 30.0 F3 F2
25 pre-eclampsia 30.0 VWF F8 F5 F3 F2
26 cerebral sinovenous thrombosis 29.9 F5 F3 F2
27 femoral neuropathy 29.9 F3 F2
28 bernard-soulier syndrome 29.9 VWF F9 F8 F7 F2
29 carotid artery occlusion 29.9 F8 F5 F11
30 portal vein thrombosis 29.9 F7 F5 F2
31 portal hypertension 29.9 VWF F3 F2
32 branch retinal artery occlusion 29.9 F3 F2
33 placenta disease 29.8 F5 F3 F2
34 heparin-induced thrombocytopenia 29.8 F3 F10
35 polycythemia vera 29.8 VWF F5 F2
36 compartment syndrome 29.8 F8 F7 F3 F2
37 angiodysplasia 29.7 VWF F8 F3
38 sneddon syndrome 29.7 F9 F8 F5 F2
39 retinal artery occlusion 29.7 F9 F8 F5 F2
40 placental insufficiency 29.6 VWF F3 F2
41 heart valve disease 29.6 VWF F3 F2
42 hellp syndrome 29.6 VWF F5 F3 F2
43 moyamoya disease 1 29.6 VWF F3 F2
44 papilledema 29.5 F3 F2
45 hemolytic-uremic syndrome 29.5 VWF F3 F2
46 central retinal vein occlusion 29.5 VWF F8 F5 F3 F2
47 x-linked recessive disease 29.5 ICOSLG F9 F8 F3
48 antithrombin iii deficiency 29.4 F5 F2 F10
49 active peptic ulcer disease 29.4 VWF F7 F3 F2
50 intracranial hypertension 29.4 F9 F5 F3 F2

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



Diseases related to Factor Viii Deficiency

Symptoms & Phenotypes for Factor Viii Deficiency

Human phenotypes related to Factor Viii Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 31 HP:0001892
2 reduced factor viii activity 31 HP:0003125

Symptoms via clinical synopsis from OMIM:

56
Heme:
bleeding diathesis
hemophilia

Lab:
factor viii deficiency
normal bleeding time
no factor viii elevation after hemophilic plasma infusion

Clinical features from OMIM:

134500

MGI Mouse Phenotypes related to Factor Viii Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 F10 F11 F2 F3 F5 F7
2 mortality/aging MP:0010768 9.36 F10 F11 F2 F3 F5 F7

Drugs & Therapeutics for Factor Viii Deficiency

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

(show top 50) (show all 260)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Didanosine Approved Phase 4 69655-05-6 50599
4
Zidovudine Approved Phase 4 30516-87-1 35370
5
Indinavir Approved Phase 4 150378-17-9 5362440
6
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
9
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
10
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
11
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
12
Ribavirin Approved Phase 4 36791-04-5 37542
13
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
14
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
15
Tranexamic Acid Approved Phase 4 1197-18-8 5526
16
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
17
rituximab Approved Phase 4 174722-31-7 10201696
18
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
19 Liver Extracts Phase 4
20 Immunologic Factors Phase 4
21 Reverse Transcriptase Inhibitors Phase 4
22 Anti-Retroviral Agents Phase 4
23 Anti-HIV Agents Phase 4
24 Anti-Infective Agents Phase 4
25 Antimetabolites Phase 4
26 Antiviral Agents Phase 4
27 Natriuretic Agents Phase 4
28 Deamino Arginine Vasopressin Phase 4
29 Vasopressins Phase 4
30 Arginine Vasopressin Phase 4
31 Protective Agents Phase 4
32 Viscosupplements Phase 4
33 Adjuvants, Immunologic Phase 4
34 Triamcinolone diacetate Phase 4
35 Hylan Phase 4
36 triamcinolone acetonide Phase 4
37 Triamcinolone hexacetonide Phase 4
38 interferons Phase 4
39 Interferon-alpha Phase 4
40 Vasoconstrictor Agents Phase 4
41 Antibodies, Bispecific Phase 4
42 Antifibrinolytic Agents Phase 4
43 Hemostatics Phase 4
44 Antineoplastic Agents, Hormonal Phase 4
45 Antirheumatic Agents Phase 4
46 Anti-Inflammatory Agents Phase 4
47 Hormone Antagonists Phase 4
48 glucocorticoids Phase 4
49 Antineoplastic Agents, Immunological Phase 4
50 Hormones Phase 4

Interventional clinical trials:

(show top 50) (show all 672)
# Name Status NCT ID Phase Drugs
1 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4 ADVATE [Antihemophilic Factor (Recombinant)];ADVATE [Antihemophilic Factor (Recombinant)]
2 DDAVP vs Exercise in Patients With Mild Hemophilia A - Which is Better and do They Work Synergistically in Improving Hemostasis? Unknown status NCT03136003 Phase 4 DDAVP
3 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
4 Hematology Oncology Center Unknown status NCT02999308 Phase 4
5 Whole Blood Clot Stability and Thrombin Generating Capacity Following Treatment With Bypassing Agents (BPA) With and Without and Tranexamic Acid (TXA) in Haemophilia A Patients With inhibitor-an In-vivo Prospective Crossover Study Completed NCT01800435 Phase 4 aPCC, aPCC + TXA;rFVIIa, rFVIIa + TXA
6 A Non-randomized, Open-label Study To Evaluate The Pharmacokinetics, Safety And Efficacy Of Refacto Af In Previously Treated Pediatric Subjects Less Than Twelve Years Of Age With Severe Hemophilia A (Fviii:c <1%). Completed NCT00914459 Phase 4
7 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A: a Phase IV, Prospective, Randomized, Controlled, Cross-over, Single Center Study Completed NCT00666406 Phase 4 Antihemophilic Factor (Recombinant) - Plasma/Albumin Free Method (rAHF-PFM);Recombinant Factor VIII (rAHF)
8 Routine Prophylaxis Treatment Versus On-demand Treatment for Children With Severe Hemophilia A: Comparison of All Bleeding Events in Chinese Hemophilia Patients Completed NCT01810666 Phase 4
9 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
10 A Phase IV Study of the Safety and Efficacy of ReFacto® (Moroctocog Alfa, B-Domain Deleted Recombinant Factor VIII) in Subjects With Hemophilia A Undergoing Major Surgery Monitored Using the Chromogenic Substrate Assay at the Local Laboratory Completed NCT00092976 Phase 4 ReFacto
11 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
12 Inhibitor Development in Previously Untreated Patients (PUPs) or Minimally Blood Component-Treated Patients (MBCTPs) When Exposed to Plasma-derived Von Willebrand Factor-Containing Factor VIII (VWF/FVIII) Concentrates and to Recombinant Factor VIII (rFVIII) Concentrates: An Independent, International, Multicentre, Prospective, Controlled, Randomised, Open Label, Clinical Trial Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
13 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
14 A Diagnostic Interventional, Controlled, Cross-sectional Evaluation of Joint Status Using Magnetic Resonance Imaging in Subjects With Severe Hemophilia A Treated With Primary Prophylaxis, Secondary Prophylaxis, or On-demand Therapy Completed NCT00927667 Phase 4
15 Pharmacokinetic Comparison of 3000 IU Advate (rAHF-PFM) (Using One 3000 IU Potency Vial) With 3000 IU Advate (rAHF PFM) (Using Two 1500 IU Potency Vials) in Previously Treated Patients With Severe Hemophilia A: a Phase 4, Open-label, Prospective, Randomized, Controlled, Crossover, Multiple Center Study Completed NCT00916032 Phase 4
16 A Multiclinic, Open Pilot Study to Investigate the Effect of Combination Antiretroviral Therapy Including Indinavir Sulfate on Coagulation Factors, on Platelet Aggregation, and on Factor VIII/IX Half-Life in HIV-1 Seropositive Patients With Hemophilia A or B Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
17 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin-Free Method (ADVATE rAHF-PFM): A Phase 4 Study to Determine the Pharmacokinetic Response of Patients Diagnosed With Severe Hemophilia A to Different Doses of ADVATE rAHF-PFM Completed NCT00289536 Phase 4
18 Antihemophilic Factor (Recombinant) Plasma/Albumin-Free Method (rAHF PFM): A Phase 3/4, Prospective, Controlled, Randomized, Multi-Center Study to Compare the Efficacy and Safety of Continuous Infusion (CI) Versus Intermittent Bolus Infusion (BI) in Subjects With Severe or Moderately Severe Hemophilia A Undergoing Major Orthopedic Surgery Completed NCT00357656 Phase 4 Recombinant Protein-Free Factor VIII (rAHF-PFM);Recombinant Protein-Free Factor VIII (rAHF-PFM)
19 Efficacy and Cost Effectiveness of Standard Versus Pharmacokinetic Dosing During Factor VIII Prophylaxis in Adult Patients With Severe Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
20 Combination Therapy of Low Doses of rFVIIa and FEIBA for Severe Hemophilia A Patients With an Inhibitor to Factor VIII Completed NCT00284193 Phase 4 rFVIIa-FEIBA therapy for hemophilia A inhibitors;FEIBA- Activated Prothrombin Complexes
21 A Prospective Study to Evaluate the Effect of rFVIII-FS in Different Prophylactic Regimens on Bleeding Events Frequency and Development of Arthropathy in Previously Treated and Minimally Treated Hemophilia A Pediatric Population. Completed NCT00632814 Phase 4 rFVIII-FS (Kogenate FS, BAY14-2222) 70 IU/kg, dosing once per week;rFVIII-FS (Kogenate FS, BAY14-2222), 70 IU/kg twice per week (30 IU/kg + 40 IU/kg);rFVIII-FS (Kogenate FS, BAY14-2222) 75 IU/kg, dosing three times per week (3 x 25 IU/kg)
22 Post Marketing Study in Haemophilia B Patients Using Nonafact® 100 IU/ml Powder and Solvent for Solution for Injection(Human Coagulation Factor IX)(Human Plasma Derived Factor IX Product, Freeze Dried) Completed NCT00139828 Phase 4 human coagulation Factor IX
23 An Open-Label, Randomized, Parallel, Multicenter Trial Comparing the Safety and Efficacy of rFVIIa When Administered as i.v. Bolus or i.v. Continuous Infusion to Hemophiliacs With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
24 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
25 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
26 An Open-label, Single-arm, Post- Authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Xyntha (Moroctocog-alfa (Af-cc), Recombinant Fviii) In Subjects With Hemophilia A In Usual Care Settings In China Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
27 A Prospective Controlled Study on the Effect on Bleeding Events and Joint Function in Young Adults With Severe Hemophilia A After a 6 Month Prophylaxis Treatment Compared to on Demand Treatment Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
28 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
29 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin Free Method (ADVATE rAHF-PFM): A Phase 4 Study Comparing Two Prophylactic Regimens in Subjects With Severe or Moderately Severe Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free;Antihemophilic factor, recombinant, manufactured protein-free
30 An Open Label Study to Evaluate the Safety and Effect on Sustained Virological Response of PEGASYS Plus Ribavirin in Patients With Hemophilia A and Chronic Hepatitis C Completed NCT00475072 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin
31 Effects of Desmopressin on Blood Loss and the Quality of the Surgical Field During Endoscopic Sinus Surgery Completed NCT02125188 Phase 4 Desmopressin;saline
32 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
33 An Open-label, Multi-centre Post-marketing Study to Assess the Efficacy and Safety of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
34 NovoSeven® (rFVIIa) by Single Dose for Home Treatment of Joint Bleeds in Haemophilia Patients With Inhibitors: A Pilot, Double-Blind Study Versus Standard Multiple Doses of NovoSeven® and Open-Label FEIBA® Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
35 rFVIIa (NovoSeven®) for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors: A Double-blind Study of a Single High Dose Versus Standard Multiple Doses of rFVIIa Completed NCT00571584 Phase 4 activated recombinant human factor VII
36 1-deamino 8-d-arginine Vasopressin in Percutaneous Ultrasound-guided Renal Biopsy: a Randomized Controlled Trial Completed NCT00748072 Phase 4 DDAVP;saline solution
37 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
38 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
39 Exercise Versus DDAVP in Patients With Mild Hemophilia A - is One Non-inferior to the Other and do They Work Additively in Improving Hemostasis? Completed NCT03379974 Phase 4 DDAVP Inhalant Product
40 An Open-label, Single-arm, Post-authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Benefix (Nonacog Alfa, Recombinant Factor Ix) In Subjects With Hemophilia B In Usual Care Settings In China Completed NCT02336178 Phase 4 Benefix
41 Safety of Turoctocog Alfa for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Patients With Moderate or Severe Haemophilia A in India Completed NCT03449342 Phase 4 turoctocog alfa
42 Evaluation of Efficacy and Safety of Benefix®- Coagulation Factor ix, Recombinant, in Previously Treated Patients With Hemophilia b. Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
43 IMMUNINE - Purified Factor IX Concentrate Virus-Inactivated: A Phase 4, Prospective, Open-label Multicenter Study to Prospectively Document the Exposure of IMMUNINE and to Monitor FIX Inhibitors in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B Who Are Planned to Enter BAX 326 Study 250901 to Investigate a New Recombinant FIX Concentrate Completed NCT01128881 Phase 4
44 A Study on PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin) in Iranian Hemophilic Patients With Chronic Hepatitis C Infection Completed NCT00707772 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin);PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
45 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
46 Jeanne Grace; Head Research Subjects Review Board Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
47 The Assessment of the Minimal Effective and Tolerated Dose of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
48 A Phase IV, Multicenter, Single-Arm, Open-Label Study of Emicizumab Prophylaxis in Patients With Hemophilia A With or Without Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
49 IMMUNE TOLERANCE INDUCTION, BY FACTOR VIII CONCENTRATE CONTAINING VON WILLEBRAND FACTOR, IN SEVERE OR MODERATE HAEMOPHILIA A PATIENTS WITH INHIBITORS Recruiting NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
50 Beijing Children's Hospital, Capital Medical University Recruiting NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab

Search NIH Clinical Center for Factor Viii Deficiency

Inferred drug relations via UMLS 71 / NDF-RT 50 :


antihemophilic factor, human
Antihemophilic Factor, Human Recombinant
Antihemophilic factor, porcine
ANTIHEMOPHILIC FACTOR,HUMAN,METHOD M,MONOCLONAL
Factor VIII
nonacog alfa
recombinant FVIIa

Cochrane evidence based reviews: hemophilia a

Genetic Tests for Factor Viii Deficiency

Genetic tests related to Factor Viii Deficiency:

# Genetic test Affiliating Genes
1 Factor Viii Deficiency 29

Anatomical Context for Factor Viii Deficiency

MalaCards organs/tissues related to Factor Viii Deficiency:

40
Liver, Testes, Bone, T Cells, Endothelial, B Cells, Breast

Publications for Factor Viii Deficiency

Articles related to Factor Viii Deficiency:

(show top 50) (show all 4919)
# Title Authors PMID Year
1
Cysteamine enhances the procoagulant activity of Factor VIII-East Hartford, a dysfunctional protein due to a light chain thrombin cleavage site mutation (arginine-1689 to cysteine). 61 6
1569180 1992
2
Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. 6 61
2104766 1990
3
An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule. 6 61
2506948 1989
4
Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). 61 6
2498882 1989
5
Dominant inheritance of hemophilia A in three generations of women. 56 61
1169993 1975
6
Autosomal factor-VIII deficiency. 56 61
4177509 1968
7
Factor VIII-East Hartford (arginine 1689 to cysteine) has procoagulant activity when separated from von Willebrand factor. 6
1569181 1992
8
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. 6
2986011 1985
9
'Autosomal haemophilia': a variant of von Willebrand's disease. 56
4546581 1974
10
Haemophilia A with apparently autosomal dominant inheritance. Evidence for a second autosomal locus involved in factor 8 production. 56
5865598 1965
11
Allergy and inhibitors in hemophilia - a rare complication with potential novel solutions. 61
31669933 2020
12
Neuropsychological function in children with hemophilia: A review of the Hemophilia Growth and Development Study and introduction of the current eTHINK study. 61
31595670 2020
13
Hemophilia A in Females: Considerations for Clinical Management. 61
31825922 2019
14
Curing hemophilia A by NHEJ-mediated ectopic F8 insertion in the mouse. 61
31843008 2019
15
The Effect of Fluctuating Temperature on the Stability of Turoctocog Alfa for Hemophilia A. 61
31782067 2019
16
Bioengineering hemophilia A-specific microvascular grafts for delivery of full-length factor VIII into the bloodstream. 61
31851760 2019
17
A Thrombin-Activatable Factor X Variant Corrects Hemostasis in a Mouse Model for Hemophilia A. 61
31639831 2019
18
Inhibitor eradication and bleeding management of acquired hemophilia A: a single center experience in China. 61
31514689 2019
19
Analysis of long non-coding RNA expression in hemophilia A patients. 61
30758269 2019
20
Airway Obstruction Caused by Hemorrhage: Managing a Life-Threatening Complication in Patients With Acquired Hemophilia A: A Case Report. 61
31842198 2019
21
A multicenter, open-label phase 3 study of emicizumab prophylaxis in children with hemophilia A with inhibitors. 61
31697801 2019
22
Efficacy of emicizumab prophylaxis versus factor VIII prophylaxis for treatment of hemophilia A without inhibitors: network meta-analysis and sub-group analyses of the intra-patient comparison of the HAVEN 3 trial. 61
31355677 2019
23
Gene therapy for hemophilia. 61
31808868 2019
24
Clustering of Thrombin Generation Test Data Using a Reduced Mathematical Model of Blood Coagulation. 61
31853681 2019
25
Antigen-specific tolerance to self-antigens in protein replacement therapy, gene therapy and autoimmunity. 61
31476445 2019
26
Management of rare acquired bleeding disorders. 61
31808848 2019
27
Characteristics of Acquired Inhibitors to Factor VIII and Von Willebrand Factor Secondary to Systemic Lupus Erythematosus: Experiences From a Chinese Tertiary Medical Center. 61
31815811 2019
28
Kidney transplantation from an HIV-positive cadaveric donor. 61
31563146 2019
29
Exploring the Impact of Infusion Frequency in Hemophilia A: Exit Interviews with Patients Participating in BAY 94-9027 Extension Studies (PROTECT VIII). 61
31313270 2019
30
An enzyme-free electrochemical biosensor for simultaneous detection of two hemophilia A biomarkers: Combining target recycling with quantum dots-encapsulated metal-organic frameworks for signal amplification. 61
31708034 2019
31
Economic impact model of delayed inhibitor development in patients with hemophilia a receiving emicizumab for the prevention of bleeding events. 61
31530050 2019
32
Therapeutic potential of spheroids of stem cells from human exfoliated deciduous teeth for chronic liver fibrosis and hemophilia A. 61
31552493 2019
33
Subcutaneous concizumab prophylaxis in hemophilia A and hemophilia A/B with inhibitors: phase 2 trial results. 61
31444162 2019
34
Deaths Associated with Emicizumab in Patients with Hemophilia A. 61
31693814 2019
35
Autoimmunity as a target for chimeric immune receptor therapy: A new vision to therapeutic potential. 61
31813654 2019
36
Novel treatment of combined factor V and factor VIII deficiency with Factor Eight Inhibitor Bypass Activity. 61
31778262 2019
37
A mutated factor X activatable by thrombin corrects bleedings in vivo in a rabbit model of antibody-induced hemophilia A. 61
31699786 2019
38
Low Dose Prophylaxis vis-a-vis on-Demand Treatment Strategies for Hemophilia: A Cost Effective and Disability Attenuating Approach. 61
31793269 2019
39
Long-term outcomes in the treatment of acquired hemophilia A: a 16-year single institution prospective cohort experience. 61
31789659 2019
40
Hemostatic Effect of Tranexamic Acid Combined With Factor VIII Concentrate in Prophylactic Setting in Severe Hemophilia A: a preclinical study. 61
31782901 2019
41
Clinical manifestation of hemophilia A in the absence of mutations in the F8 gene that encodes FVIII: role of microRNAs. 61
31785023 2019
42
Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A. 61
30872367 2019
43
Emicizumab prophylaxis among infants and toddlers with severe hemophilia A and inhibitors-a single-center cohort. 61
31348595 2019
44
Hemophilia A ameliorated in mice by CRISPR-based in vivo genome editing of human Factor VIII. 61
31727959 2019
45
[Successful treatment of acquired hemophilia A with recombinant porcine factor VIII]. 61
29774375 2019
46
Targeting protease nexin-1, a natural anticoagulant serpin, to control bleeding and improve hemostasis in hemophilia. 61
31383642 2019
47
Treatment Options in Hemophilia. 61
31847949 2019
48
Favorable Pharmacokinetic Characteristics of Extended-Half-Life Recombinant Factor VIII BAY 94-9027 Enable Robust Individual Profiling Using a Population Pharmacokinetic Approach. 61
31749076 2019
49
A Molecular Revolution in the Treatment of Hemophilia. 61
31843450 2019
50
Access to treatment among persons with hemophilia: A spatial analysis assessment in the Rhone-Alpes region, France. 61
31405805 2019

Variations for Factor Viii Deficiency

ClinVar genetic disease variations for Factor Viii Deficiency:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F8 NM_000132.3(F8):c.5122C>T (p.Arg1708Cys)SNV Pathogenic 10114 rs111033613 X:154156943-154156943 X:154928668-154928668
2 F8 NM_000132.3(F8):c.1172G>A (p.Arg391His)SNV Pathogenic 10111 rs28935499 X:154194800-154194800 X:154966525-154966525

Expression for Factor Viii Deficiency

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

Pathways for Factor Viii Deficiency

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 MCFD2 LMAN1 F9 F8 F7 F5
2
Show member pathways
13.05 VWF F9 F8 F7 F5 F3
3
Show member pathways
12.58 F9 F8 F7 F5 F3 F2
4
Show member pathways
11.86 VWF F9 F8A1 F8 F7 F5
5
Show member pathways
11.7 F9 F7 F2 F10
6 11.48 VWF LMAN1 F9 F8 F7 F5
7 10.63 F9 F7 F2 F10

GO Terms for Factor Viii Deficiency

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 VWF F9 F8 F7 F5 F3
2 extracellular space GO:0005615 10.06 F9 F8 F7 F5 F3 F2
3 platelet alpha granule lumen GO:0031093 9.65 VWF F8 F5
4 COPII-coated ER to Golgi transport vesicle GO:0030134 9.58 LMAN1 F8 F5
5 Golgi lumen GO:0005796 9.56 F9 F7 F2 F10
6 platelet alpha granule GO:0031091 9.49 VWF F5
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.46 MCFD2 LMAN1 F8 F5
8 collagen-containing extracellular matrix GO:0062023 9.43 VWF LMAN1 F9 F7 F3 F2
9 intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10
10 serine-type peptidase complex GO:1905286 9.32 F7 F3
11 endoplasmic reticulum lumen GO:0005788 9.1 F9 F8 F7 F5 F2 F10

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.92 F9 F7 F2 F11 F10
2 ER to Golgi vesicle-mediated transport GO:0006888 9.76 MCFD2 LMAN1 F9 F8 F7 F5
3 platelet degranulation GO:0002576 9.72 VWF F8 F5
4 platelet activation GO:0030168 9.71 VWF F8 F2
5 COPII vesicle coating GO:0048208 9.71 MCFD2 LMAN1 F8 F5
6 blood coagulation, intrinsic pathway GO:0007597 9.65 VWF F9 F8 F2 F11
7 negative regulation of proteasomal protein catabolic process GO:1901799 9.61 F8A3 F8A2 F8A1
8 hemostasis GO:0007599 9.61 VWF F9 F8 F7 F5 F3
9 blood coagulation, extrinsic pathway GO:0007598 9.54 F7 F3 F10
10 positive regulation of blood coagulation GO:0030194 9.51 F7 F2
11 vesicle cytoskeletal trafficking GO:0099518 9.5 F8A3 F8A2 F8A1
12 positive regulation of positive chemotaxis GO:0050927 9.49 F7 F3
13 regulation of blood coagulation GO:0030193 9.48 F2 F11
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F7 F3
15 blood coagulation GO:0007596 9.32 VWF LMAN1 F9 F8 F7 F5

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.06 VWF MCFD2 LMAN1 INTS11 ICOSLG F9
2 calcium ion binding GO:0005509 9.72 MCFD2 F9 F7 F2 F10
3 peptidase activity GO:0008233 9.65 F9 F7 F2 F11 F10
4 serine-type peptidase activity GO:0008236 9.35 F9 F7 F2 F11 F10
5 serine-type endopeptidase activity GO:0004252 9.1 F9 F7 F3 F2 F11 F10

Sources for Factor Viii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....