MCID: FCT001
MIFTS: 51

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
Autosomal Hemophilia a 56 12 71
Hemophilia a 12 71
Autosomal Factor Viii Deficiency 12
Congenital Factor Viii Disorder 12
Classic Hemophilia a 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:0111823 DOID:12134
OMIM 56 134500
ICD9CM 34 286.0
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 An inherited 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 Tranexamic Acid and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and liver, 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 813)
# Related Disease Score Top Affiliating Genes
1 hemophilia a 32.8 VWF LOC106146150 F9 F8A1 F8 F7
2 hemophilia 32.7 LOC106146150 F9 F8 F7
3 von willebrand disease, type 3 32.4 VWF SIGLEC5 F8
4 acquired hemophilia a 32.1 F9 F8A1 F8 F5 F3 F11
5 von willebrand disease, type 1 31.7 VWF SIGLEC5 F8 F3 F2
6 factor v and factor viii, combined deficiency of, 2 30.7 MCFD2 LMAN1 F8 F5
7 purpura 30.5 VWF F3 F2
8 lymphangiosarcoma 30.3 VWF F8
9 varicose veins 30.3 VWF F5 F2
10 retinal vein occlusion 30.2 F5 F3 F2
11 protein c deficiency 30.2 F9 F5 F2
12 fainting 30.2 VWF F8
13 homocysteinemia 30.2 VWF F5 F2
14 paracetamol poisoning 30.1 F5 F2
15 post-thrombotic syndrome 30.1 F8 F5 F3 F2
16 thrombasthenia 30.1 F5 F3 F2
17 von willebrand disease, type 2 30.0 VWF SIGLEC5 F8
18 venous insufficiency 30.0 VWF F5 F2
19 thrombocytosis 30.0 VWF F3 F2
20 hemophilia b 30.0 VWF ICOSLG F9 F8 F7 F3
21 hemopericardium 30.0 F3 F2
22 pre-eclampsia 30.0 VWF F8 F5 F3 F2
23 femoral neuropathy 29.9 F3 F2
24 cerebral sinovenous thrombosis 29.9 F5 F3 F2
25 limb ischemia 29.9 VWF SIGLEC5 F2
26 carotid artery occlusion 29.9 F8 F5 F11
27 pseudo-von willebrand disease 29.9 VWF SIGLEC5
28 portal vein thrombosis 29.8 F7 F5 F2
29 placenta disease 29.8 F5 F3 F2
30 portal hypertension 29.8 VWF F3 F2
31 compartment syndrome 29.8 F8 F7 F3 F2
32 sneddon syndrome 29.7 F9 F8 F5 F2
33 retinal artery occlusion 29.7 F9 F8 F5 F2
34 placental insufficiency 29.6 VWF F3 F2
35 hepatic coma 29.6 F3 F2
36 heparin-induced thrombocytopenia 29.6 F3 F10
37 hellp syndrome 29.6 VWF F5 F3 F2
38 patent foramen ovale 29.6 VWF F5 F3 F2
39 moyamoya disease 1 29.5 VWF F3 F2
40 central retinal vein occlusion 29.5 VWF F8 F5 F3 F2
41 bernard-soulier syndrome 29.5 VWF F9 F8 F7 F3 F2
42 hemolytic-uremic syndrome 29.5 VWF F3 F2
43 hypothyroidism 29.4 VWF F9 F8 F3 F2
44 active peptic ulcer disease 29.4 VWF F7 F3 F2
45 intracranial hypertension 29.4 F9 F5 F3 F2
46 exanthem 29.3 ICOSLG F3 F2
47 angiodysplasia 29.3 VWF SIGLEC5 F8 F3
48 factor xii deficiency 29.3 VWF F9 F5 F3 F11
49 cardiac tamponade 29.3 F9 F8 F7 F3 F2
50 vascular disease 29.3 VWF F8 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

Drugs & Therapeutics for Factor Viii Deficiency

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

(show top 50) (show all 277)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
4
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
5
Didanosine Approved Phase 4 69655-05-6 50599
6
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Indinavir Approved Phase 4 150378-17-9 5362440
9
Zidovudine Approved Phase 4 30516-87-1 35370
10
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
11
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
12
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
13
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
14
Ribavirin Approved Phase 4 36791-04-5 37542
15
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
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 Hemostatics Phase 4
21 Antifibrinolytic Agents Phase 4
22 Immunologic Factors Phase 4
23 Reverse Transcriptase Inhibitors Phase 4
24 Anti-Infective Agents Phase 4
25 Anti-Retroviral Agents Phase 4
26 Antiviral Agents Phase 4
27 Antimetabolites Phase 4
28 Anti-HIV Agents Phase 4
29 Deamino Arginine Vasopressin Phase 4
30 Vasopressins Phase 4
31 Arginine Vasopressin Phase 4
32 Hylan Phase 4
33 Triamcinolone diacetate Phase 4
34 triamcinolone acetonide Phase 4
35 Triamcinolone hexacetonide Phase 4
36 Vasoconstrictor Agents Phase 4
37 interferons Phase 4
38 Interferon-alpha Phase 4
39 Hormones Phase 4
40 Antineoplastic Agents, Hormonal Phase 4
41 Hormone Antagonists Phase 4
42 glucocorticoids Phase 4
43 Antirheumatic Agents Phase 4
44 Anti-Inflammatory Agents Phase 4
45 Antineoplastic Agents, Immunological Phase 4
46 Antibodies, Monoclonal Phase 4
47
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
48
Busulfan Approved, Investigational Phase 3 55-98-1 2478
49
Mesna Approved, Investigational Phase 3 3375-50-6 598
50
Etoposide Approved Phase 3 33419-42-0 36462

Interventional clinical trials:

(show top 50) (show all 694)
# 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 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
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 Assessment of Coagulation Abnormalities in Acute on Chronic Liver Failure Patients Using Thromboelastography Unknown status NCT02757170 Phase 4
5 Efficacy and Safety of Early Administration of Tranexamic Acid in Cirrhotic Patients Presenting With Acute Upper Gastrointestinal Bleeding: a Multicenter, Randomized, Double Blind, Placebo-controlled Trial (Modified by amendment1) Unknown status NCT03023189 Phase 4 Tranexamic acid;Placebo
6 Hematology Oncology Center Unknown status NCT02999308 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 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
9 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)
10 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
11 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
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 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
14 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
15 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
16 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
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 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
19 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
20 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)
21 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
22 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)
23 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
24 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
25 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
26 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
27 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
28 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
29 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)
30 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
31 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
32 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
33 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
34 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
35 Effects of Desmopressin on Blood Loss and the Quality of the Surgical Field During Endoscopic Sinus Surgery Completed NCT02125188 Phase 4 Desmopressin;saline
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 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
38 1-deamino 8-d-arginine Vasopressin in Percutaneous Ultrasound-guided Renal Biopsy: a Randomized Controlled Trial Completed NCT00748072 Phase 4 DDAVP;saline solution
39 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
40 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
41 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
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 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
44 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
45 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
46 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)
47 Jeanne Grace; Head Research Subjects Review Board Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
48 A Comparison of Dermal Autograft to Commercially Available Dermal Allograft in Breast Reconstruction Completed NCT01561287 Phase 4
49 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
50 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 Recruiting NCT04396639 Phase 4

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

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
Testes, Bone, Liver, Breast, Endothelial, Bone Marrow, Whole Blood

Publications for Factor Viii Deficiency

Articles related to Factor Viii Deficiency:

(show top 50) (show all 399)
# Title Authors PMID Year
1
Autosomal factor-VIII deficiency. 56 61
4177509 1968
2
Factor VIII-East Hartford (arginine 1689 to cysteine) has procoagulant activity when separated from von Willebrand factor. 6
1569181 1992
3
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). 6
1569180 1992
4
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
2104766 1990
5
An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule. 6
2506948 1989
6
Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). 6
2498882 1989
7
Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. 6
2986011 1985
8
Dominant inheritance of hemophilia A in three generations of women. 56
1169993 1975
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
Causes of death and mortality trends related to hemophilia in Brazil, 1999 to 2016. 61
32553646 2020
12
A Case Report of Anticoagulation Management in Acquired Hemophilia Associated With Levofloxacin. 61
30189787 2020
13
Utilization of Emicizumab in Acquired Factor VIII Deficiency. 61
32376817 2020
14
Bilateral simultaneous orbital hemorrhage and compartment syndrome as the presenting sign of acquired hemophilia A in an 11-year-old girl. 61
32061785 2020
15
Improved secretion of glycoproteins using an N-glycan-restricted passport sequence tag recognized by cargo receptor. 61
32170195 2020
16
Novel treatment of combined factor V and factor VIII deficiency with Factor Eight Inhibitor Bypass Activity. 61
31778262 2020
17
Acquired factor VIII deficiency in prostate adenocarcinoma presenting as multiple hematomas and hemarthrosis. 61
32110407 2020
18
Hemophilia presenting as recurrent ocular hemorrhage. 61
32269913 2020
19
A study to determine the prevalence, clinical profile and incidence of formation of inhibitors in patients of hemophilia in North Eastern part of India. 61
31463277 2019
20
Effect of Prophylactic Management of Hemophilia on Bleeding Episodes. 61
31388263 2019
21
Serum Sclerostin Level and Bone Mineral Density in Pediatric Hemophilic Arthropathy. 61
30671760 2019
22
Acquired haemophilia A in a patient with breast cancer and lung carcinoma: a case report and literature review. 61
31502548 2019
23
Zeolite-fibrin clot composite as a haemostatic agent for haemophilia A. 61
30819015 2019
24
[Surgical treatment of a juxtaarticular bonecyst communicating with the ankle joint in a severe haemophilia A case]. 61
31010304 2019
25
[Clinical management of patients with hemophilia A in nephrology: Diagnostic and therapeutic challenges illustrated by the cases of 2 patients]. 61
30660587 2019
26
Management of combined factor V and factor VIII deficiency in pregnancy. 61
29667457 2019
27
Acquired Hemophilia A: A Case Report. 61
30727803 2019
28
Update on clinical gene therapy for hemophilia. 61
30559260 2019
29
Evaluating the safety of emicizumab in patients with hemophilia A. 61
30462521 2018
30
Genetics of Hypercoagulable and Hypocoagulable States. 61
30223962 2018
31
[Acquired hemophilia A associated with chronic myelomonocytic leukemia successfully treated by rituximab and azacitidine]. 61
29653879 2018
32
Oral surgery for combined haemophilia A and B. The dos and don'ts presented in a clinical scenario. 61
30569902 2018
33
Acute Life-Threatening Hemorrhage in Neonates With Severe Hemophilia A: A Report of 3 Cases. 61
30246038 2018
34
Treatment of choroidal neovascularization in a case of factor VIII deficiency: Ten-year follow-up. 61
29977729 2018
35
[Congenital factor V and factor VIII deficiency discovered in an elderly patient with abnormal bleeding after trauma]. 61
29743396 2018
36
Hemorrhagic pleural effusion related to acquired coagulation factor VIII deficiency: A case report. 61
29285161 2017
37
Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female. 61
28452855 2017
38
A first description of the Colombian national registry for rare diseases. 61
29073918 2017
39
Unexpected pharmacokinetics of recombinant porcine factor VIII in a patient with acquired factor VIII deficiency and spontaneous epidural haematoma. 61
28664642 2017
40
Incidence and outcome of retained Port-A-Cath fragments during removal. 61
28584903 2017
41
Factor V and VIII deficiency treated with therapeutic plasma exchange prior to redo mitral valve replacement. 61
27306448 2017
42
Combined deficiency of factor V and factor VIII: management during cardiothoracic surgery. 61
27273144 2017
43
Innovative Approaches for Immune Tolerance to Factor VIII in the Treatment of Hemophilia A. 61
29225598 2017
44
Acquired factor VIII deficiency: two case reports and a review of literature. 61
28352491 2017
45
Budget Impact Analysis of Prolonged Half-Life Recombinant FVIII Therapy for Hemophilia in the United States. 61
28212975 2017
46
A Protocol for the Preparation of Cryoprecipitate and Cryo-depleted Plasma for Proteomic Studies. 61
28674874 2017
47
Expression and release of platelet protein disulphide isomerase in patients with haemophilia A. 61
27761968 2016
48
Anesthetic management of patient with hemophilia a undergoing emergency ventriculoperitoneal shunting: A case report and review of literature. 61
27833501 2016
49
Aspirin unmasking acquired haemophilia A in a patient with prostate cancer. 61
27609590 2016
50
[Acquired von-Willebrand factor and factor-VIII deficiencies caused by angiostrongylosis in a dog]. 61
27189252 2016

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.1172G>A (p.Arg391His)SNV Pathogenic 10111 rs28935499 X:154194800-154194800 X:154966525-154966525
2 F8 NM_000132.3(F8):c.5122C>T (p.Arg1708Cys)SNV Pathogenic 10114 rs111033613 X:154156943-154156943 X:154928668-154928668

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
13.05 VWF F9 F8 F7 F5 F3
2
Show member pathways
12.58 F9 F8 F7 F5 F3 F2
3
Show member pathways
11.86 VWF F9 F8A1 F8 F7 F5
4
Show member pathways
11.7 F9 F7 F2 F10
5 11.48 VWF LMAN1 F9 F8 F7 F5
6 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 10.11 VWF F9 F8 F7 F5 F3
2 extracellular space GO:0005615 10.08 F9 F8 F7 F5 F3 F2
3 platelet alpha granule lumen GO:0031093 9.61 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 9.93 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 9.7 VWF F8 F2
5 COPII vesicle coating GO:0048208 9.67 MCFD2 LMAN1 F8 F5
6 blood coagulation, intrinsic pathway GO:0007597 9.65 VWF F9 F8 F2 F11
7 hemostasis GO:0007599 9.61 VWF F9 F8 F7 F5 F3
8 negative regulation of proteasomal protein catabolic process GO:1901799 9.51 F8A3 F8A1
9 blood coagulation, extrinsic pathway GO:0007598 9.5 F7 F3 F10
10 positive regulation of blood coagulation GO:0030194 9.49 F7 F2
11 regulation of blood coagulation GO:0030193 9.48 F2 F11
12 positive regulation of positive chemotaxis GO:0050927 9.46 F7 F3
13 vesicle cytoskeletal trafficking GO:0099518 9.43 F8A3 F8A1
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.4 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 10.16 VWF SIGLEC5 MCFD2 LUC7L2 LMAN1 ICOSLG
2 calcium ion binding GO:0005509 9.72 MCFD2 F9 F7 F2 F10
3 peptidase activity GO:0008233 9.55 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
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