MCID: FCT001
MIFTS: 63

Factor Viii Deficiency

Categories: Blood diseases, Genetic diseases
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Aliases & Classifications for Factor Viii Deficiency

MalaCards integrated aliases for Factor Viii Deficiency:

Name: Factor Viii Deficiency 57 11 75 28 14 71 75
Autosomal Hemophilia a 57 11 71
Hemophilia a 11 43 71
Autosomal Factor Viii Deficiency 11
Congenital Factor Viii Disorder 11
Factor 8 Deficiency, Congenital 5
Classic Hemophilia a 11
Subhemophilia 11
Factor Viii 5

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0111823 DOID:12134
OMIM® 57 134500
ICD9CM 34 286.0
MeSH 43 D006467
NCIt 49 C27146
SNOMED-CT 68 28293008
ICD10 31 D66
MedGen 40 C3494187
SNOMED-CT via HPO 69 234440005 248250000 64779008
UMLS 71 C0019069 C3494186 C3494187

Summaries for Factor Viii Deficiency

Disease Ontology 11 Factor viii deficiency: 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.

Autosomal hemophilia a: A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency.

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 Anti-inhibitor coagulant complex and Tranexamic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, endothelial and bone marrow, and related phenotypes are abnormal bleeding and reduced factor viii activity

Wikipedia: 75 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 987)
# Related Disease Score Top Affiliating Genes
1 hemophilia a 32.8 VWF FUNDC2 F9 F8A1 F8 F7
2 hemophilia 32.4 VWF F9 F8 F2 F10
3 von willebrand disease, type 3 32.1 VWF SIGLEC5 F8
4 von willebrand disease, type 1 32.0 VWF SIGLEC5 F8 F3
5 von willebrand's disease 31.8 VWF SIGLEC5 SERPINC1 F9 F8 F7
6 hemophilia b 31.5 VWF TFPI SERPINC1 F9 F8 F7
7 factor v and factor viii, combined deficiency of, 2 31.3 MCFD2 LMAN1 F8
8 purpura 30.9 VWF SERPINC1 F3 F2
9 eclampsia 30.8 SERPINC1 F3 F2
10 factor v and factor viii, combined deficiency of, 1 30.7 MCFD2 LMAN1
11 esophageal varix 30.7 SERPINC1 F3 F2
12 varicose veins 30.6 VWF SERPINC1 F2
13 retinal vein occlusion 30.6 VWF SERPINC1 F3 F2
14 severe pre-eclampsia 30.5 SERPINC1 F3 F2
15 thrombocytosis 30.5 VWF SERPINC1 F3 F2
16 protein c deficiency 30.5 SERPINC1 F9 F2
17 central retinal vein occlusion 30.5 SERPINC1 F3 F2
18 bernard-soulier syndrome 30.5 VWF F9 F8 F7 F3 F2
19 antithrombin iii deficiency 30.5 SERPINC1 F3 F2 F10
20 pseudo-von willebrand disease 30.4 VWF SIGLEC5 F8
21 arteriovenous malformation 30.4 VWF F3 F2
22 von willebrand disease, type 2 30.4 VWF SIGLEC5 F8
23 heparin-induced thrombocytopenia 30.4 F3 F2
24 active peptic ulcer disease 30.4 VWF F7 F3 F2
25 aortic valve insufficiency 30.4 VWF MIR374B F3 F2
26 peptic ulcer disease 30.4 VWF F3 F2
27 thrombocytopenic purpura, autoimmune 30.4 F8 F3 F2
28 limb ischemia 30.4 VWF SERPINC1 F3
29 thrombotic thrombocytopenic purpura 30.4 VWF SERPINC1 F8 F3
30 pulmonary embolism 30.3 VWF SERPINC1 F9 F8 F3 F2
31 moyamoya disease 1 30.3 VWF SERPINC1 FUNDC2 F3 F2
32 stroke, ischemic 30.3 VWF SERPINC1 F9 F7 F3 F2
33 qualitative platelet defect 30.3 VWF F7 F3 F2
34 thrombocytopenia 30.3 VWF SERPINC1 MCFD2 F9 F8 F3
35 sickle cell anemia 30.3 VWF SERPINC1 F3 F2
36 antiphospholipid syndrome 30.3 VWF TFPI SERPINC1 F3 F2 F10
37 compartment syndrome 30.3 SERPINC1 F9 F8 F7 F3 F2
38 heart septal defect 30.3 SERPINC1 MIR15B F3 F2
39 heart valve disease 30.3 VWF MIR374B F3 F2
40 chronic venous insufficiency 30.3 VWF SERPINC1 F3 F2
41 ischemic colitis 30.3 SERPINC1 F3 F2
42 intermediate coronary syndrome 30.3 VWF SERPINC1 F3
43 placental abruption 30.3 SERPINC1 F7 F3 F2
44 cardiac tamponade 30.3 F9 F8 F3 F2
45 deficiency anemia 30.3 VWF SERPINC1 F9 F7 F3 F2
46 glanzmann thrombasthenia 1 30.3 VWF F9 F8 F7 F3 F10
47 respiratory failure 30.3 VWF SERPINC1 F3 F2
48 femoral neuropathy 30.2 F3 F2
49 vascular disease 30.2 VWF SERPINC1 F8 F3 F2
50 blood platelet disease 30.2 VWF SERPINC1 F8 F7 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal bleeding 30 HP:0001892
2 reduced factor viii activity 30 HP:0003125

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

MGI Mouse Phenotypes related to Factor Viii Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.47 F10 F11 F2 F3 F7 F8

Drugs & Therapeutics for Factor Viii Deficiency

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

(show top 50) (show all 192)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
2
Tranexamic acid Approved Phase 4 1197-18-8 5526
3
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
4
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
5
Zidovudine Approved Phase 4 30516-87-1 35370
6
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
7
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
8
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
9
Indinavir Approved Phase 4 150378-17-9 5362440
10
Didanosine Approved Phase 4 69655-05-6 50599
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
13
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
14
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4
15
Ribavirin Approved Phase 4 36791-04-5 37542
16
Mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7 4240 441336
17
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
18 Antifibrinolytic Agents Phase 4
19 Arginine Vasopressin Phase 4
20 Vasopressins Phase 4
21 Deamino Arginine Vasopressin Phase 4
22 Antiviral Agents Phase 4
23 Anti-Infective Agents Phase 4
24 Antimetabolites Phase 4
25 Anti-HIV Agents Phase 4
26 Reverse Transcriptase Inhibitors Phase 4
27
Triamcinolone hexacetonide Phase 4
28
Triamcinolone diacetate Phase 4
29
Triamcinolone Acetonide Phase 4 6436
30 Hylan Phase 4
31 interferons Phase 4
32 Interferon-alpha Phase 4
33 Immunoglobulin Fc Fragments Phase 4
34 BAX 855 Phase 4
35
Phylloquinone Approved, Investigational Phase 3 84-80-0 5284607
36
Rituximab Approved Phase 2, Phase 3 174722-31-7
37
Prednisone Approved, Vet_approved Phase 2, Phase 3 53-03-2 5865
38
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
39
Menadione Approved, Nutraceutical Phase 3 58-27-5 4055
40
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
41 Menaquinone Investigational Phase 3 1182-68-9
42 Immunologic Factors Phase 3
43 Immunosuppressive Agents Phase 3
44 Alkylating Agents Phase 3
45 Antineoplastic Agents, Alkylating Phase 3
46 Hemostatics Phase 3
47 Autoantibodies Phase 2, Phase 3
48 Pharmaceutical Solutions Phase 2, Phase 3
49 Vitamins Phase 3
50 Vitamin K Phase 3

Interventional clinical trials:

(show top 50) (show all 738)
# 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 The Effectiveness of Recombinant Fusion Protein Linking Coagulation Factor IX With Recombinant Albumin (rIX-FP) in Severe Hemophilia B Patients Switching From Previous Factor IX Treatment Unknown status NCT04108260 Phase 4 Albutrepenonacog Alfa 1 UNT [IDELVION]
4 Hematology Oncology Center Unknown status NCT02999308 Phase 4
5 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
6 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4 ADVATE [Antihemophilic Factor (Recombinant)]
7 Capital Characteristic Application: Pharmacokinetic(PK) Research on Chinese Children of Hemophilia Unknown status NCT03622476 Phase 4 concentrated FVIII
8 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
9 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Completed NCT03915080 Phase 4 Oktokog alpha
10 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)
11 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)
12 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII
13 Post-marketing Investigation (PMI) to Assess Safety and Efficacy of Jivi (BAY 94-9027) Treatment in Participants With Hemophilia A Completed NCT04085458 Phase 4 Damoctocog alfa pegol (Jivi, BAY94-9027)
14 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
15 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
16 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
17 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
18 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
19 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
20 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
21 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
22 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)
23 Clinical Outcomes of Low Dose Pharmacokinetic-guided Extended Half-life FVIII Concentrates Versus Low Dose Standard Prophylaxis in Thai Severe Haemophilia A Patients Completed NCT05281185 Phase 4 Extended half-life FVIII concentrates with PK-guided dosing;standard half-life FVIII concentrates with weight-based dosing
24 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
25 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
26 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
27 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
28 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)
29 Phase IV A Study of Immunologic Safety for Alphanate in Previously Treated Patients Diagnosed With Severe Hemophilia A Completed NCT00323856 Phase 4 Alphanate SD/HT
30 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
31 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
32 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
33 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
34 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
35 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
36 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
37 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
38 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
39 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
40 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)
41 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
42 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
43 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
44 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
45 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
46 Phase IV Multi-Center, Prospective, Interventional, Post-Marketing Study in Hemophilia B Patients in India Receiving RIXUBIS as On-demand or Prophylaxis Under Standard Clinical Practice Completed NCT03565237 Phase 4
47 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
48 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
49 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
50 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;factor VIII

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 28

Anatomical Context for Factor Viii Deficiency

Organs/tissues related to Factor Viii Deficiency:

MalaCards : Liver, Endothelial, Bone Marrow, Myeloid, Bone, Whole Blood, Ovary

Publications for Factor Viii Deficiency

Articles related to Factor Viii Deficiency:

(show top 50) (show all 20400)
# Title Authors PMID Year
1
The odds and implications of coinheritance of hemophilia A and B. 62 5
32685904 2020
2
Systematic molecular analysis of hemophilia A patients from Colombia. 62 5
30534853 2018
3
High proportion of patients with bleeding of unknown cause in persons with a mild-to-moderate bleeding tendency: Results from the Vienna Bleeding Biobank (VIBB). 62 5
29388750 2018
4
Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity. 62 5
29170251 2018
5
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations. 62 5
28056528 2018
6
Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. 62 5
29296726 2017
7
F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association. 62 5
26897466 2016
8
A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect. 62 5
27066508 2016
9
Identification of deep intronic variants in 15 haemophilia A patients by next generation sequencing of the whole factor VIII gene. 62 5
25948085 2015
10
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? 62 5
25824987 2015
11
Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein. 62 5
24108539 2014
12
The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. 62 5
23913812 2013
13
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. 62 5
23812942 2013
14
Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A. 62 5
23625609 2013
15
Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A. 62 5
21883705 2012
16
Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations. 62 5
21371196 2011
17
Deep intronic variations may cause mild hemophilia A. 62 5
21689372 2011
18
Successful immune tolerance induction by FVIII in hemophilia A patients with inhibitor may occur without deletion of FVIII-specific T cells. 62 5
21645224 2011
19
[Mutation screening of the F VIII gene in 10 hemophilia A families]. 62 5
21462120 2011
20
Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein. 62 5
21217077 2011
21
Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients. 62 5
21070499 2011
22
Storage of factor VIII variants with impaired von Willebrand factor binding in Weibel-Palade bodies in endothelial cells. 62 5
21909383 2011
23
Molecular pathology of haemophilia A in Indian patients: identification of 11 novel mutations. 62 5
20800587 2010
24
The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A. 62 5
20331753 2010
25
Spectrum of causative mutations in patients with haemophilia A in Austria. 62 5
20431853 2010
26
Mutation analysis of factor VIII in Korean patients with severe hemophilia A. 62 5
20533009 2010
27
Ten novel factor VIII (F8C) mutations in eighteen haemophilia A families detected in Singapore. 62 5
20028422 2010
28
Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile. 62 5
20102490 2010
29
Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A. 62 5
20193250 2010
30
Profiling of factor VIII mutations in Korean haemophilia A. 62 5
19719548 2009
31
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. 62 5
19719828 2009
32
Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors. 62 5
19740093 2009
33
Combined homology modelling and evolutionary significance evaluation of missense mutations in blood clotting factor VIII to highlight aspects of structure and function. 62 5
19473423 2009
34
Factor VIII mutations in 42 Moldovan haemophilia A families, including 12 that are novel. 62 5
19473408 2009
35
Molecular mechanisms underlying hemophilia A phenotype in seven females. 62 5
19302446 2009
36
Inhibitors of factor VIII in black patients with hemophilia. 62 5
19369668 2009
37
Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors. 62 5
18600086 2008
38
Severe and moderate hemophilia A: identification of 38 new genetic alterations. 62 5
18403393 2008
39
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. 62 5
18565236 2008
40
Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization. 62 5
20300295 2008
41
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype. 62 5
18387975 2008
42
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. 62 5
18184865 2008
43
Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 62 5
18217193 2008
44
The molecular aetiology of haemophilia A in a New Zealand patient group. 62 5
17610560 2007
45
F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors. 62 5
17610549 2007
46
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. 62 5
17445092 2007
47
Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects. 62 5
17550859 2007
48
Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene. 62 5
17498081 2007
49
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. 62 5
16972227 2007
50
In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results. 62 5
17222201 2007

Variations for Factor Viii Deficiency

ClinVar genetic disease variations for Factor Viii Deficiency:

5 (show top 50) (show all 583)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F8 F8, ALU INS INSERT Pathogenic
10353 GRCh37:
GRCh38:
2 F8 NM_000132.4(F8):c.104A>G (p.Tyr35Cys) SNV Pathogenic
10352 rs137852476 GRCh37: X:154250724-154250724
GRCh38: X:155022449-155022449
3 F8 F8, EX23-26DEL DEL Pathogenic
10349 GRCh37:
GRCh38:
4 F8 F8, EX23-24DEL DEL Pathogenic
10348 GRCh37:
GRCh38:
5 F8 F8, EX19-21DEL DEL Pathogenic
10347 GRCh37:
GRCh38:
6 F8 F8, EX16DEL DEL Pathogenic
10346 GRCh37:
GRCh38:
7 F8 F8, EX18-19DEL DEL Pathogenic
10345 GRCh37:
GRCh38:
8 F8 F8, EX16-26DEL DEL Pathogenic
10344 GRCh37:
GRCh38:
9 F8 F8, EX15-22DEL DEL Pathogenic
10343 GRCh37:
GRCh38:
10 F8 F8, EX14-22DEL DEL Pathogenic
10342 GRCh37:
GRCh38:
11 F8 F8, EX14-21DEL DEL Pathogenic
10341 GRCh37:
GRCh38:
12 F8 F8, EX10DEL DEL Pathogenic
10340 GRCh37:
GRCh38:
13 F8 F8, EX5-13DEL DEL Pathogenic
10339 GRCh37:
GRCh38:
14 F8 F8, EX4-10DEL DEL Pathogenic
10338 GRCh37:
GRCh38:
15 F8 F8, EX3-5DEL DEL Pathogenic
10337 GRCh37:
GRCh38:
16 F8 F8, EX2-4DEL DEL Pathogenic
10336 GRCh37:
GRCh38:
17 F8 F8, EX1-6DEL DEL Pathogenic
10335 GRCh37:
GRCh38:
18 F8 NM_000132.4(F8):c.6968G>A (p.Arg2323His) SNV Pathogenic
10334 rs137852474 GRCh37: X:154065960-154065960
GRCh38: X:154837685-154837685
19 F8 NM_000132.4(F8):c.6914_6918del (p.Asn2305fs) DEL Pathogenic
10331 rs387906466 GRCh37: X:154066010-154066014
GRCh38: X:154837735-154837739
20 F8 NM_000132.4(F8):c.6865C>T (p.Gln2289Ter) SNV Pathogenic
10330 rs137852471 GRCh37: X:154088742-154088742
GRCh38: X:154860467-154860467
21 F8 NM_000132.4(F8):c.6794_6795del (p.Gln2265fs) DEL Pathogenic
10329 rs387906465 GRCh37: X:154088812-154088813
GRCh38: X:154860537-154860538
22 F8 NM_000132.4(F8):c.6744G>T (p.Trp2248Cys) SNV Pathogenic
10327 rs137852469 GRCh37: X:154088863-154088863
GRCh38: X:154860588-154860588
23 F8 NM_000132.4(F8):c.6699del (p.Arg2234fs) DEL Pathogenic
10326 rs387906464 GRCh37: X:154090017-154090017
GRCh38: X:154861742-154861742
24 F8 NM_000132.4(F8):c.6682C>G (p.Arg2228Gly) SNV Pathogenic
10325 rs137852355 GRCh37: X:154090034-154090034
GRCh38: X:154861759-154861759
25 F8 NM_000132.4(F8):c.6683G>T (p.Arg2228Leu) SNV Pathogenic
10324 rs137852358 GRCh37: X:154090033-154090033
GRCh38: X:154861758-154861758
26 F8 NM_000132.4(F8):c.6631G>C (p.Ala2211Pro) SNV Pathogenic
10322 rs137852468 GRCh37: X:154090085-154090085
GRCh38: X:154861810-154861810
27 F8 NM_000132.4(F8):c.6518C>T (p.Thr2173Ile) SNV Pathogenic
10317 rs137852463 GRCh37: X:154091414-154091414
GRCh38: X:154863139-154863139
28 F8 NM_000132.4(F8):c.6515C>A (p.Pro2172Gln) SNV Pathogenic
10316 rs137852462 GRCh37: X:154091417-154091417
GRCh38: X:154863142-154863142
29 F8 NM_000132.4(F8):c.6464_6465del (p.Lys2155fs) DEL Pathogenic
10313 rs387906463 GRCh37: X:154091467-154091468
GRCh38: X:154863192-154863193
30 F8 NM_000132.4(F8):c.6412_6413del (p.Ser2138fs) DEL Pathogenic
10312 rs387906462 GRCh37: X:154124368-154124369
GRCh38: X:154896093-154896094
31 F8 NM_000132.4(F8):c.6413C>A (p.Ser2138Tyr) SNV Pathogenic
10311 rs137852460 GRCh37: X:154124368-154124368
GRCh38: X:154896093-154896093
32 F8 NM_000132.4(F8):c.6360T>G (p.Phe2120Leu) SNV Pathogenic
10309 rs137852458 GRCh37: X:154124421-154124421
GRCh38: X:154896146-154896146
33 F8 NM_000132.4(F8):c.6278A>G (p.Asp2093Gly) SNV Pathogenic
10308 rs137852457 GRCh37: X:154124503-154124503
GRCh38: X:154896228-154896228
34 F8 NM_000132.4(F8):c.6263C>T (p.Ser2088Phe) SNV Pathogenic
10307 rs137852456 GRCh37: X:154128151-154128151
GRCh38: X:154899876-154899876
35 F8 NM_000132.4(F8):c.6193T>C (p.Trp2065Arg) SNV Pathogenic
10306 rs137852455 GRCh37: X:154128221-154128221
GRCh38: X:154899946-154899946
36 F8 NM_000132.4(F8):c.6113A>G (p.Asn2038Ser) SNV Pathogenic
10305 rs137852454 GRCh37: X:154130328-154130328
GRCh38: X:154902053-154902053
37 F8 NM_000132.4(F8):c.6016G>T (p.Glu2006Ter) SNV Pathogenic
10303 rs267606791 GRCh37: X:154130425-154130425
GRCh38: X:154902150-154902150
38 F8 NM_000132.4(F8):c.6049del (p.Val2017fs) DEL Pathogenic
10302 rs387906461 GRCh37: X:154130392-154130392
GRCh38: X:154902117-154902117
39 F8 NM_000132.4(F8):c.5961del (p.Glu1988fs) DEL Pathogenic
10301 rs387906460 GRCh37: X:154132218-154132218
GRCh38: X:154903943-154903943
40 F8 NM_000132.4(F8):c.5938C>T (p.His1980Tyr) SNV Pathogenic
10299 rs137852451 GRCh37: X:154132241-154132241
GRCh38: X:154903966-154903966
41 F8 NM_000132.4(F8):c.5936G>T (p.Gly1979Val) SNV Pathogenic
10298 rs137852450 GRCh37: X:154132243-154132243
GRCh38: X:154903968-154903968
42 F8 NM_000132.4(F8):c.5900G>A (p.Gly1967Asp) SNV Pathogenic
10297 rs111033615 GRCh37: X:154132279-154132279
GRCh38: X:154904004-154904004
43 F8 NM_000132.4(F8):c.5882G>A (p.Trp1961Ter) SNV Pathogenic
10296 rs137852449 GRCh37: X:154132297-154132297
GRCh38: X:154904022-154904022
44 F8 NM_000132.4(F8):c.5879G>T (p.Arg1960Leu) SNV Pathogenic
10295 rs28937294 GRCh37: X:154132300-154132300
GRCh38: X:154904025-154904025
45 F8 NM_000132.4(F8):c.5719dup (p.Ser1907fs) DUP Pathogenic
10293 rs387906459 GRCh37: X:154132666-154132667
GRCh38: X:154904391-154904392
46 F8 NM_000132.4(F8):c.5710G>A (p.Glu1904Lys) SNV Pathogenic
10292 rs28933681 GRCh37: X:154132676-154132676
GRCh38: X:154904401-154904401
47 F8 NM_000132.4(F8):c.5677C>T (p.Gln1893Ter) SNV Pathogenic
10291 rs137852448 GRCh37: X:154132709-154132709
GRCh38: X:154904434-154904434
48 F8 NM_000132.4(F8):c.5622dup (p.Leu1875fs) DUP Pathogenic
10290 rs387906458 GRCh37: X:154132763-154132764
GRCh38: X:154904488-154904489
49 F8 NM_000132.4(F8):c.5618C>G (p.Pro1873Arg) SNV Pathogenic
10289 rs28933680 GRCh37: X:154132768-154132768
GRCh38: X:154904493-154904493
50 F8 NM_000132.4(F8):c.5600A>G (p.His1867Arg) SNV Pathogenic
10288 rs28933679 GRCh37: X:154132786-154132786
GRCh38: X:154904511-154904511

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
12.92 F10 F11 F2 F3 F7 F8
2
Show member pathways
12.31 TFPI SERPINC1 F9 F8 F7 F3
3
Show member pathways
11.82 VWF TFPI SERPINC1 LMAN1 F9 F8
4
Show member pathways
11.76 F9 F8 F7 F2 F10
5
Show member pathways
11.61 MCFD2 LMAN1 F8
6
Show member pathways
11.08 F9 F7 F2 F10
7
Show member pathways
10.62 F9 F8 F10
8 10.48 F7 F10

GO Terms for Factor Viii Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.43 VWF TFPI ST14 SERPINC1 F9 F8
2 endoplasmic reticulum lumen GO:0005788 10.1 SERPINC1 F9 F8 F7 F2 F10
3 collagen-containing extracellular matrix GO:0062023 10.1 F2 F3 F7 F9 LMAN1 SERPINC1
4 extracellular space GO:0005615 10.03 F10 F11 F2 F3 F7 F8
5 Golgi lumen GO:0005796 9.85 F9 F8 F7 F2 F10
6 serine-type peptidase complex GO:1905286 9.67 F3 F7
7 obsolete intrinsic component of external side of plasma membrane GO:0031233 9.4 F10 F3
8 serine-type endopeptidase complex GO:1905370 9.23 F9 F7 F2 F10

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.1 ST14 F9 F7 F2 F11 F10
2 blood coagulation GO:0007596 10 F10 F11 F2 F3 F7 F8
3 sequestering of metal ion GO:0051238 9.73 LMAN1 F9
4 vesicle cytoskeletal trafficking GO:0099518 9.67 F8A3 F8A1
5 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.62 F7 F3
6 regulation of blood coagulation GO:0030193 9.56 F11 F2 SERPINC1
7 regulation of body fluid levels GO:0050878 9.55 F9 F8 F7 F2 F10
8 hemostasis GO:0007599 9.36 F10 F11 F2 F3 F7 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 9.63 ST14 F9 F7 F2 F11 F10
2 serine-type peptidase activity GO:0008236 9.56 ST14 F9 F7 F2 F11 F10
3 serine-type endopeptidase activity GO:0004252 9.47 ST14 F9 F7 F3 F2 F11

Sources for Factor Viii Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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