MCID: FCT001
MIFTS: 62

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 57 12 73 29 15 70
Autosomal Hemophilia a 57 12 70
Hemophilia a 12 44 70
Autosomal Factor Viii Deficiency 12
Congenital Factor Viii Disorder 12
Factor 8 Deficiency, Congenital 6
Classic Hemophilia a 12
Subhemophilia 12
Factor Viii 6

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
? von willebrand disease variant


HPO:

31
factor viii deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111823 DOID:12134
OMIM® 57 134500
ICD9CM 34 286.0
MeSH 44 D006467
NCIt 50 C27146
SNOMED-CT 67 28293008
ICD10 32 D66
MedGen 41 C3494187
UMLS 70 C0019069 C3494186 C3494187

Summaries for Factor Viii Deficiency

Disease Ontology : 12 A blood coagulation 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 autosomal hemophilia a, is related to hemophilia a and hemophilia. An important gene associated with Factor Viii Deficiency is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Prednisone and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and endothelial, and related phenotypes are abnormal bleeding and reduced factor viii activity

Wikipedia : 73 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 840)
# Related Disease Score Top Affiliating Genes
1 hemophilia a 32.5 VWF LOC106146150 FUNDC2 F9 F8A1 F8
2 hemophilia 32.1 TFPI LOC106146150 F9 F8 F7
3 acquired hemophilia a 32.1 F9 F8A1 F8 F5 F3 F11
4 von willebrand disease, type 3 32.0 VWF SIGLEC5 F8
5 von willebrand disease, type 1 32.0 VWF SIGLEC5 F8
6 factor v and factor viii, combined deficiency of, 2 31.1 MCFD2 LMAN1 F8 F5
7 hemophilia b 31.1 VWF SERPINC1 ICOSLG F9 F8 F7
8 thrombotic microangiopathy 30.9 VWF F3
9 purpura 30.7 VWF SERPINC1 F3 F2
10 factor v and factor viii, combined deficiency of, 1 30.7 MCFD2 LMAN1
11 pre-eclampsia 30.5 VWF SERPINC1 F5 F3 F2
12 esophageal varix 30.5 SERPINC1 F3 F2
13 thrombasthenia 30.5 F5 F3 F2
14 acquired hemophilia 30.5 F9 F8A1 F8 F5 F3 F11
15 varicose veins 30.5 VWF SERPINC1 F5 F2
16 retinal vein occlusion 30.5 SERPINC1 F5 F3 F2
17 post-thrombotic syndrome 30.5 SERPINC1 F8 F5 F3 F2
18 lymphangiosarcoma 30.4 VWF F8
19 bernard-soulier syndrome 30.4 VWF F9 F8 F7 F3 F2
20 venous insufficiency 30.4 VWF F5 F2
21 von willebrand disease, type 2 30.4 VWF SIGLEC5 F8
22 cerebral sinovenous thrombosis 30.4 F5 F3 F2
23 thrombocytosis 30.3 VWF SERPINC1 F3 F2
24 protein c deficiency 30.3 SERPINC1 F9 F5 F2
25 fainting 30.3 VWF F8
26 homocysteinemia 30.3 VWF SERPINC1 F5 F2
27 limb ischemia 30.3 VWF SIGLEC5 F2
28 hemopericardium 30.3 F9 F3 F2
29 portal hypertension 30.3 VWF F3 F2
30 placental abruption 30.3 SERPINC1 F5 F2
31 aortic valve insufficiency 30.3 VWF F3 F2
32 ischemic colitis 30.2 SERPINC1 F5 F2
33 heparin-induced thrombocytopenia 30.2 SERPINC1 F3 F10
34 femoral neuropathy 30.2 F3 F2
35 compartment syndrome 30.2 SERPINC1 F8 F7 F3 F2
36 carotid artery occlusion 30.2 F8 F5 F11
37 catastrophic antiphospholipid syndrome 30.2 F5 F3
38 thrombotic thrombocytopenic purpura 30.1 VWF SERPINC1 F3
39 active peptic ulcer disease 30.1 VWF F7 F3 F2
40 antiphospholipid syndrome 30.1 VWF SERPINC1 F5 F3 F2 F10
41 placenta disease 30.1 SERPINC1 F5 F3 F2
42 livedoid vasculitis 30.1 SERPINC1 F2
43 von willebrand's disease 30.1 VWF SIGLEC5 F9 F8 F7 F3
44 bilirubin metabolic disorder 30.1 SERPINC1 F9 F3 F2
45 portal vein thrombosis 30.1 SERPINC1 F7 F5 F2
46 central retinal vein occlusion 30.1 VWF SERPINC1 F8 F5 F3 F2
47 hepatic veno-occlusive disease 30.0 SERPINC1 F8 F3
48 polycythemia 30.0 SERPINC1 F5 F2
49 cardiac tamponade 30.0 F9 F8 F7 F3 F2
50 branch retinal artery occlusion 30.0 SERPINC1 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®:

57 (Updated 05-Apr-2021)
Heme:
bleeding diathesis
hemophilia

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

Clinical features from OMIM®:

134500 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Factor Viii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 F10 F11 F2 F3 F5 F7
2 homeostasis/metabolism MP:0005376 9.8 F10 F11 F2 F3 F5 F7
3 mortality/aging MP:0010768 9.44 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 226)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Zidovudine Approved Phase 4 30516-87-1 35370
5
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
6
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
7
Didanosine Approved Phase 4 69655-05-6 50599
8
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
9
Indinavir Approved Phase 4 150378-17-9 5362440
10
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
11
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
12
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
13
Ribavirin Approved Phase 4 36791-04-5 37542
14
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
15
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
16
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
17 Antineoplastic Agents, Hormonal Phase 4
18 Reverse Transcriptase Inhibitors Phase 4
19 Antimetabolites Phase 4
20 Anti-Infective Agents Phase 4
21 Antiviral Agents Phase 4
22 Anti-HIV Agents Phase 4
23 Vasopressins Phase 4
24 Deamino Arginine Vasopressin Phase 4
25 Arginine Vasopressin Phase 4
26 Hylan Phase 4
27 Triamcinolone diacetate Phase 4
28 triamcinolone acetonide Phase 4
29 Triamcinolone hexacetonide Phase 4
30 interferons Phase 4
31 Interferon-alpha Phase 4
32 Hemostatics Phase 4
33 BAX 855 Phase 4
34 Immunoglobulin Fc Fragments Phase 4
35
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
36
rituximab Approved Phase 3 174722-31-7 10201696
37
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
38
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
39
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
40
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
41
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
42
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
43
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
44 Immunosuppressive Agents Phase 3
45 Pharmaceutical Solutions Phase 3
46 Antineoplastic Agents, Immunological Phase 3
47 Antirheumatic Agents Phase 3
48 Methylprednisolone Acetate Phase 3
49 Alkylating Agents Phase 3
50
Bortezomib Approved, Investigational Phase 2 179324-69-7 93860 387447

Interventional clinical trials:

(show top 50) (show all 689)
# Name Status NCT ID Phase Drugs
1 IMMUNE TOLERANCE INDUCTION, BY FACTOR VIII CONCENTRATE CONTAINING VON WILLEBRAND FACTOR, IN SEVERE OR MODERATE HAEMOPHILIA A PATIENTS WITH INHIBITORS Unknown status NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
2 Beijing Children's Hospital, Capital Medical University Unknown status NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab
3 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
4 Hematology Oncology Center Unknown status NCT02999308 Phase 4
5 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)]
6 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH MOROCTOCOG ALFA (AF-CC) PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATE AND SEVERE HEMOPHILIA A FOR A DURATION OF 8 WEEKS Completed NCT04396639 Phase 4
7 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
8 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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)
18 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
19 A Non-Controlled, Open-Label, Multicenter, Study of Immune Tolerance Induction Performed With rFVIIIFc Within a Timeframe of 60 Weeks in Severe Haemophilia A Patients With Inhibitors Who Have Failed Previous Immune Tolerance Induction Therapies Completed NCT03103542 Phase 4
20 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
21 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
22 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
23 A Non-controlled, Open-Label, Multicenter, Study of Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Subjects With Inhibitors Undergoing the First ITI Treatment Completed NCT03093480 Phase 4
24 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
25 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
26 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
27 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)
28 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
29 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
30 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)
31 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
32 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
33 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
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 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
36 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
37 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
38 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)
39 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
40 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
41 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH NONACOG ALFA PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATELY-SEVERE TO SEVERE HEMOPHILIA B FOR A DURATION OF 8 WEEKS. Completed NCT04286412 Phase 4
42 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
43 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)
44 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
45 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
46 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
47 A Multicenter, Open, Extension Trial to Evaluate Safety and Efficacy of Recombinant Human Coagulation Factor VIII (SCT800) During Long Term Treatment in Previously Treated Patients With Severe Haemophilia A . Recruiting NCT03947567 Phase 4 Recombinant Human Coagulation FVIII
48 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Recruiting NCT03915080 Phase 4 Oktokog alpha
49 A Single-center, Open-Label, Dose Escalation Study Evaluating the Safety of in Vivo Administration of FEIBA in Congenital Hemophilia A Patients With Inhibitors on Emicizumab Recruiting NCT04205175 Phase 4 Feiba
50 A Post Approval Commitment Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of KOVALTRY in Chinese Children, Adolescents /Adults With Severe Hemophilia A Recruiting NCT04565236 Phase 4

Search NIH Clinical Center for Factor Viii Deficiency

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Bone, Endothelial, T Cells, Bone Marrow, B Cells, Whole Blood

Publications for Factor Viii Deficiency

Articles related to Factor Viii Deficiency:

(show top 50) (show all 5446)
# Title Authors PMID Year
1
Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. 61 6
29296726 2017
2
F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association. 61 6
26897466 2016
3
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. 61 6
23812942 2013
4
The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. 61 6
23913812 2013
5
Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A. 61 6
23625609 2013
6
Deep intronic variations may cause mild hemophilia A. 61 6
21689372 2011
7
Successful immune tolerance induction by FVIII in hemophilia A patients with inhibitor may occur without deletion of FVIII-specific T cells. 6 61
21645224 2011
8
[Mutation screening of the F VIII gene in 10 hemophilia A families]. 61 6
21462120 2011
9
Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein. 61 6
21217077 2011
10
Mutation analysis of factor VIII in Korean patients with severe hemophilia A. 6 61
20533009 2010
11
Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile. 61 6
20102490 2010
12
Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A. 61 6
20193250 2010
13
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. 6 61
19719828 2009
14
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. 6 61
19740093 2009
15
Molecular mechanisms underlying hemophilia A phenotype in seven females. 6 61
19302446 2009
16
Inhibitors of factor VIII in black patients with hemophilia. 61 6
19369668 2009
17
Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors. 61 6
18600086 2008
18
Severe and moderate hemophilia A: identification of 38 new genetic alterations. 6 61
18403393 2008
19
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. 61 6
18565236 2008
20
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. 61 6
18387975 2008
21
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 6 61
20300295 2008
22
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites. 6 61
18184865 2008
23
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 61 6
18217193 2008
24
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. 61 6
17445092 2007
25
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects. 6 61
17550859 2007
26
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. 6 61
16972227 2007
27
Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N. 6 61
16834740 2006
28
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. 61 6
16786531 2006
29
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients. 61 6
16769589 2006
30
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. 61 6
16086318 2005
31
The Malmö International Brother Study (MIBS). Genetic defects and inhibitor development in siblings with severe hemophilia A. 61 6
15996930 2005
32
The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations. 6 61
15921397 2005
33
Exon skipping caused by an intronic insertion of a young Alu Yb9 element leads to severe hemophilia A. 61 6
12884004 2003
34
Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. 6 61
12871415 2003
35
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. 6 61
12406074 2002
36
The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion. 61 6
12242334 2002
37
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 61 6
12351418 2002
38
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. 6 61
12204009 2002
39
The identification and classification of 41 novel mutations in the factor VIII gene (F8C). 6 61
11857744 2002
40
Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. 6 61
11858487 2002
41
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene. 61 6
11748850 2001
42
Somatic mosaicism in hemophilia A: a fairly common event. 6 61
11410838 2001
43
Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. 6 61
11341489 2001
44
An Alu insert as the cause of a severe form of hemophilia A. 61 6
11713379 2001
45
Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. 6 61
11110718 2000
46
Frameshift mutations with severe and moderate clinical phenotypes in Thai hemophilia A patients. 61 6
11102988 2000
47
De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism. 6 61
11023529 2000
48
A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. 6 61
10910910 2000
49
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. 61 6
9829908 1998
50
Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. 6 61
9792405 1998

Variations for Factor Viii Deficiency

ClinVar genetic disease variations for Factor Viii Deficiency:

6 (show top 50) (show all 475)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F8 NM_000132.3(F8):c.4858del (p.Ser1619_Leu1620insTer) Deletion Pathogenic 10264 rs387906456 GRCh37: X:154157207-154157207
GRCh38: X:154928932-154928932
2 F8 E161* Variation Pathogenic 10265 GRCh37:
GRCh38:
3 F8 NM_000132.3(F8):c.5143C>T (p.Arg1715Ter) SNV Pathogenic 10267 rs137852439 GRCh37: X:154156922-154156922
GRCh38: X:154928647-154928647
4 F8 NM_000132.3(F8):c.5143C>G (p.Arg1715Gly) SNV Pathogenic 10268 rs137852439 GRCh37: X:154156922-154156922
GRCh38: X:154928647-154928647
5 F8 F8, IVS14AS, A-G, -2 SNV Pathogenic 10269 GRCh37:
GRCh38:
6 F8 NM_000132.3(F8):c.5305G>A (p.Gly1769Arg) SNV Pathogenic 10270 rs137852440 GRCh37: X:154134763-154134763
GRCh38: X:154906488-154906488
7 F8 NM_000132.3(F8):c.1569G>T (p.Leu523=) SNV Pathogenic 439678 rs782733685 GRCh37: X:154185415-154185415
GRCh38: X:154957140-154957140
8 F8 NM_000132.3(F8):c.5186G>A (p.Gly1729Glu) SNV Pathogenic 439677 rs1557278259 GRCh37: X:154156879-154156879
GRCh38: X:154928604-154928604
9 F8 NM_000132.3(F8):c.2734_2735del (p.Asn912fs) Deletion Pathogenic 369688 rs1557278778 GRCh37: X:154159330-154159331
GRCh38: X:154931055-154931056
10 F8 NM_000132.3(F8):c.3091_3094del (p.Lys1031fs) Deletion Pathogenic 369689 rs1375894900 GRCh37: X:154158971-154158974
GRCh38: X:154930696-154930699
11 F8 NM_000132.3(F8):c.5954G>A (p.Arg1985Gln) SNV Pathogenic 618098 rs1490417405 GRCh37: X:154132225-154132225
GRCh38: X:154903950-154903950
12 F8 NM_000132.3(F8):c.1172G>A (p.Arg391His) SNV Pathogenic 10111 rs28935499 GRCh37: X:154194800-154194800
GRCh38: X:154966525-154966525
13 F9 NM_000133.3(F9):c.572G>A (p.Arg191His) SNV Pathogenic 10585 rs137852238 GRCh37: X:138633272-138633272
GRCh38: X:139551113-139551113
14 F9 NM_000133.3(F9):c.1009G>A (p.Ala337Thr) SNV Pathogenic 626950 rs137852253 GRCh37: X:138643853-138643853
GRCh38: X:139561694-139561694
15 F9 NM_000133.3(F9):c.835G>A (p.Ala279Thr) SNV Pathogenic 216926 rs137852247 GRCh37: X:138643011-138643011
GRCh38: X:139560852-139560852
16 F9 NM_000133.3(F9):c.881G>A (p.Arg294Gln) SNV Pathogenic 10602 rs137852249 GRCh37: X:138643725-138643725
GRCh38: X:139561566-139561566
17 F9 NM_000133.3(F9):c.407T>C (p.Ile136Thr) SNV Pathogenic 627177 rs1603265481 GRCh37: X:138630537-138630537
GRCh38: X:139548378-139548378
18 F8 NM_000132.3(F8):c.4936del (p.Ala1646fs) Deletion Pathogenic 804140 rs1603433729 GRCh37: X:154157129-154157129
GRCh38: X:154928854-154928854
19 F8 NM_000132.3(F8):c.2150G>A (p.Arg717Gln) SNV Pathogenic 810977 rs942909873 GRCh37: X:154159915-154159915
GRCh38: X:154931640-154931640
20 F8 NM_000132.3(F8):c.6622C>G (p.Gln2208Glu) SNV Pathogenic 811219 rs1472169963 GRCh37: X:154090094-154090094
GRCh38: X:154861819-154861819
21 F8 NM_000132.3(F8):c.6638C>T (p.Ser2213Phe) SNV Pathogenic 811281 rs1603431511 GRCh37: X:154090078-154090078
GRCh38: X:154861803-154861803
22 F9 NM_000133.3(F9):c.*1157A>G SNV Pathogenic 627188 rs1317977313 GRCh37: X:138645387-138645387
GRCh38: X:139563228-139563228
23 F8 NM_000132.3(F8):c.2044G>T (p.Val682Phe) SNV Pathogenic 592086 rs1569559755 GRCh37: X:154176042-154176042
GRCh38: X:154947767-154947767
24 F8 F8, ALU INS Insertion Pathogenic 10353 GRCh37:
GRCh38:
25 F8 NM_000132.3(F8):c.104A>G (p.Tyr35Cys) SNV Pathogenic 10352 rs137852476 GRCh37: X:154250724-154250724
GRCh38: X:155022449-155022449
26 F8 F8, 1-BP DEL Deletion Pathogenic 10350 GRCh37:
GRCh38:
27 F8 F8, EX23-26DEL Deletion Pathogenic 10349 GRCh37:
GRCh38:
28 F8 F8, EX23-24DEL Deletion Pathogenic 10348 GRCh37:
GRCh38:
29 F8 F8, EX19-21DEL Deletion Pathogenic 10347 GRCh37:
GRCh38:
30 F8 F8, EX16DEL Deletion Pathogenic 10346 GRCh37:
GRCh38:
31 F8 F8, EX18-19DEL Deletion Pathogenic 10345 GRCh37:
GRCh38:
32 F8 F8, EX16-26DEL Deletion Pathogenic 10344 GRCh37:
GRCh38:
33 F8 F8, EX15-22DEL Deletion Pathogenic 10343 GRCh37:
GRCh38:
34 F8 F8, EX14-22DEL Deletion Pathogenic 10342 GRCh37:
GRCh38:
35 F8 F8, EX14-21DEL Deletion Pathogenic 10341 GRCh37:
GRCh38:
36 F8 F8, EX10DEL Deletion Pathogenic 10340 GRCh37:
GRCh38:
37 F8 F8, EX5-13DEL Deletion Pathogenic 10339 GRCh37:
GRCh38:
38 F8 F8, EX4-10DEL Deletion Pathogenic 10338 GRCh37:
GRCh38:
39 F8 F8, EX3-5DEL Deletion Pathogenic 10337 GRCh37:
GRCh38:
40 F8 F8, EX2-4DEL Deletion Pathogenic 10336 GRCh37:
GRCh38:
41 F8 F8, EX1-6DEL Deletion Pathogenic 10335 GRCh37:
GRCh38:
42 F8 NM_000132.3(F8):c.6968G>A (p.Arg2323His) SNV Pathogenic 10334 rs137852474 GRCh37: X:154065960-154065960
GRCh38: X:154837685-154837685
43 F8 NM_000132.3(F8):c.6967C>T (p.Arg2323Cys) SNV Pathogenic 10333 rs137852473 GRCh37: X:154065961-154065961
GRCh38: X:154837686-154837686
44 F8 NM_000132.3(F8):c.6956C>T (p.Pro2319Leu) SNV Pathogenic 10332 rs137852472 GRCh37: X:154065972-154065972
GRCh38: X:154837697-154837697
45 F8 NM_000132.3(F8):c.6914_6918del (p.Asn2305fs) Deletion Pathogenic 10331 rs387906466 GRCh37: X:154066010-154066014
GRCh38: X:154837735-154837739
46 F8 NM_000132.3(F8):c.6865C>T (p.Gln2289Ter) SNV Pathogenic 10330 rs137852471 GRCh37: X:154088742-154088742
GRCh38: X:154860467-154860467
47 F8 NM_000132.3(F8):c.6794_6795del (p.Gln2265fs) Deletion Pathogenic 10329 rs387906465 GRCh37: X:154088812-154088813
GRCh38: X:154860537-154860538
48 F8 NM_000132.3(F8):c.6794A>G (p.Gln2265Arg) SNV Pathogenic 10328 rs137852470 GRCh37: X:154088813-154088813
GRCh38: X:154860538-154860538
49 F8 NM_000132.3(F8):c.6744G>T (p.Trp2248Cys) SNV Pathogenic 10327 rs137852469 GRCh37: X:154088863-154088863
GRCh38: X:154860588-154860588
50 F8 NM_000132.3(F8):c.6699del (p.Arg2234fs) Deletion Pathogenic 10326 rs387906464 GRCh37: X:154090017-154090017
GRCh38: X:154861742-154861742

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
13.07 VWF TFPI SERPINC1 F9 F8 F7
2
Show member pathways
12.59 TFPI SERPINC1 F9 F8 F7 F5
3
Show member pathways
11.94 VWF TFPI SERPINC1 F9 F8A1 F8
4
Show member pathways
11.7 F9 F7 F2 F10
5 11.56 VWF TFPI SERPINC1 LMAN1 F9 F8
6 10.8 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 12)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.29 TFPI SMIM9 SIGLEC5 SERPINC1 ICOSLG F9
2 extracellular region GO:0005576 10.06 VWF TFPI SERPINC1 F9 F8 F7
3 extracellular space GO:0005615 9.9 VWF TFPI SERPINC1 F9 F8 F7
4 platelet alpha granule lumen GO:0031093 9.67 VWF F8 F5
5 Golgi lumen GO:0005796 9.67 F9 F7 F2 F10
6 COPII-coated ER to Golgi transport vesicle GO:0030134 9.63 LMAN1 F8 F5
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.56 MCFD2 LMAN1 F8 F5
8 platelet alpha granule GO:0031091 9.51 VWF F5
9 collagen-containing extracellular matrix GO:0062023 9.5 VWF SERPINC1 LMAN1 F9 F7 F3
10 intrinsic component of external side of plasma membrane GO:0031233 9.43 F3 F10
11 serine-type peptidase complex GO:1905286 9.4 F7 F3
12 endoplasmic reticulum lumen GO:0005788 9.17 SERPINC1 F9 F8 F7 F5 F2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 F9 F7 F2 F11 F10
2 ER to Golgi vesicle-mediated transport GO:0006888 9.76 MCFD2 LMAN1 F9 F8 F7 F5
3 COPII vesicle coating GO:0048208 9.71 MCFD2 LMAN1 F8 F5
4 platelet degranulation GO:0002576 9.7 VWF F8 F5
5 hemostasis GO:0007599 9.7 VWF TFPI SERPINC1 F9 F8 F7
6 platelet activation GO:0030168 9.67 VWF F8 F2
7 blood coagulation, intrinsic pathway GO:0007597 9.65 VWF F9 F8 F2 F11
8 blood coagulation, extrinsic pathway GO:0007598 9.62 TFPI F7 F3 F10
9 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 F11
10 positive regulation of blood coagulation GO:0030194 9.48 F7 F2
11 positive regulation of positive chemotaxis GO:0050927 9.46 F7 F3
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F7 F3
13 blood coagulation GO:0007596 9.4 VWF TFPI SERPINC1 LMAN1 F9 F8

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.55 F9 F7 F2 F11 F10
2 protease binding GO:0002020 9.43 VWF SERPINC1 F3
3 serine-type peptidase activity GO:0008236 9.35 F9 F7 F2 F11 F10
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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