MCID: FCT001
MIFTS: 55

Factor Viii Deficiency

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Factor Viii Deficiency

MalaCards integrated aliases for Factor Viii Deficiency:

Name: Factor Viii Deficiency 57 12 76 29 15 73
Hemophilia a 12 44 73
Autosomal Hemophilia a 57 73
Congenital Factor Viii Disorder 12
Subhemophilia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? von willebrand disease variant


HPO:

32
factor viii deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 134500
Disease Ontology 12 DOID:12134
ICD10 33 D66
ICD9CM 35 286.0
MeSH 44 D006467
NCIt 50 C27146
SNOMED-CT 68 28293008
MedGen 42 C3494187

Summaries for Factor Viii Deficiency

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

MalaCards based summary : Factor Viii Deficiency, also known as hemophilia a, is related to hemophilia a and acquired hemophilia a. An important gene associated with Factor Viii Deficiency is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. The drugs Thrombin and rituximab have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and liver, and related phenotypes are abnormal bleeding and reduced factor viii activity

Wikipedia : 76 Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased... more...

Description 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 247)
# Related Disease Score Top Affiliating Genes
1 hemophilia a 33.0 VWF F8 F5 F11
2 acquired hemophilia a 31.9 F8 F5 F11
3 von willebrand disease, type 3 31.7 VWF F8 F11
4 hemophilia b 31.5 F8 F2 F11
5 von willebrand disease, type 2 31.4 VWF F8
6 acquired hemophilia 31.0 F8 F5 F11
7 von willebrand disease, type 1 31.0 VWF F8 F2
8 hemarthrosis 30.1 VWF F8
9 hemophilia 29.8 VWF MCFD2 LMAN1 F8 F2
10 compartment syndrome 29.7 F8 F2
11 cardiac tamponade 29.6 F8 F2
12 factor vii deficiency 29.6 F8 F2
13 factor xi deficiency 29.6 F2 F11
14 ischemic colitis 29.4 F5 F2
15 portal vein thrombosis 29.3 F5 F2
16 purpura 29.3 VWF F2
17 von willebrand's disease 29.2 VWF F8 F5 F2 F11
18 thrombophilia due to thrombin defect 29.1 VWF F8 F5 F2
19 thrombosis 29.1 VWF F8 F5 F2
20 pulmonary embolism 29.0 VWF F5 F2
21 stroke, ischemic 29.0 VWF F5 F2
22 myocardial infarction 28.8 VWF F8 F5 F2 F11
23 thrombophilia 28.8 VWF F8 F5 F2 F11
24 factor x deficiency 28.8 VWF F5 F2 F11
25 heart disease 28.6 VWF F8 F2
26 afibrinogenemia 28.6 VWF F8 F5 F2 F11
27 hemorrhagic disease 28.6 VWF F8 F5 F2 F11
28 hemophilia a with vascular abnormality 12.3
29 multiple sclerosis-ichthyosis-factor viii deficiency syndrome 12.3
30 carotid artery occlusion 10.1 F8 F5
31 factor xiii deficiency 10.1 F8 F5
32 fainting 10.1 VWF F8
33 cerebral arteritis 10.1 VWF F8
34 lymphangiosarcoma 10.0 VWF F8
35 fournier gangrene 10.0 F8 F2
36 vitamin k deficiency hemorrhagic disease 10.0 F8 F2
37 livedoid vasculitis 10.0 F8 F2
38 thrombasthenia 10.0 F5 F2
39 paracetamol poisoning 10.0 F5 F2
40 spinal cord infarction 10.0 F5 F2
41 sudden sensorineural hearing loss 10.0 F5 F2
42 cerebral sinovenous thrombosis 10.0 F5 F2
43 hemoglobin e disease 10.0 F5 F2
44 sagittal sinus thrombosis 10.0 F5 F2
45 prothrombin deficiency, congenital 10.0 F5 F2
46 cryptogenic cirrhosis 10.0 F5 F2
47 porencephaly 10.0 F5 F2
48 retinal vascular occlusion 10.0 F5 F2
49 peripheral vertigo 10.0 F5 F2
50 antithrombin iii deficiency 10.0 F5 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

Symptoms via clinical synopsis from OMIM:

57
Heme:
bleeding diathesis
hemophilia

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


Clinical features from OMIM:

134500

Human phenotypes related to Factor Viii Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 reduced factor viii activity 32 HP:0003125

MGI Mouse Phenotypes related to Factor Viii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 F11 F2 F5 F8 LMAN1 MCFD2

Drugs & Therapeutics for Factor Viii Deficiency

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

(show top 50) (show all 138)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable
2
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
3 tannic acid Approved Phase 4,Phase 3,Phase 1
4
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 94-09-7, 1994-09-7 2337
5
Tranexamic Acid Approved Phase 4,Not Applicable 1197-18-8 5526
6
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Zidovudine Approved Phase 4,Phase 3,Phase 1,Not Applicable 30516-87-1 35370
9
Didanosine Approved Phase 4 69655-05-6 50599
10
Indinavir Approved Phase 4 150378-17-9 5362440
11
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
12
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
13
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
14
Ribavirin Approved Phase 4,Phase 1 36791-04-5 37542
15
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
16
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
17
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
18 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
19 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
21 Feiba Phase 4,Phase 3,Phase 2,Not Applicable
22 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
23 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
24 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Not Applicable
26 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Not Applicable
27 Antimetabolites Phase 4,Phase 3,Phase 1,Not Applicable
28 Antiviral Agents Phase 4,Phase 3,Phase 1,Not Applicable
29 Anti-HIV Agents Phase 4,Phase 3,Phase 1,Not Applicable
30 Anti-Retroviral Agents Phase 4,Phase 3,Phase 1,Not Applicable
31 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Early Phase 1
32 Antibodies, Bispecific Phase 4,Phase 3,Phase 1
33 Vasopressins Phase 4,Phase 2,Phase 1
34 arginine Phase 4,Phase 2,Phase 1
35 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1
36 Arginine Vasopressin Phase 4,Phase 2,Phase 1
37 Natriuretic Agents Phase 4,Phase 2,Phase 1
38 Antifibrinolytic Agents Phase 4,Not Applicable
39 Hormones Phase 4,Phase 2,Phase 3,Phase 1
40 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3
41 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
42 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Not Applicable
43 glucocorticoids Phase 4,Phase 2,Phase 3
44 Hormone Antagonists Phase 4,Phase 2,Phase 3
45 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 1,Not Applicable
46 HIV Protease Inhibitors Phase 4,Phase 2,Phase 1
47
protease inhibitors Phase 4,Phase 2,Phase 1
48 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 1,Not Applicable
49 interferons Phase 4
50 Interferon-alpha Phase 4

Interventional clinical trials:

(show top 50) (show all 527)
# 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 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Unknown status NCT02999308 Phase 4
3 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
4 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
5 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
6 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
7 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
8 Study Evaluating Inhibitor Specificity in Hemophilia A Withdrawn NCT00151385 Phase 4
9 Phase 3/4 Study of a Recombinant Protein-Free Factor VIII (rAHF-PFM): Comparison of Continuous Infusion Versus Intermittent Bolus Infusion in Hemophilia A Subjects Undergoing Major Orthopedic Surgery Completed NCT00357656 Phase 4 Recombinant Protein-Free Factor VIII (rAHF-PFM);Recombinant Protein-Free Factor VIII (rAHF-PFM)
10 Safety/Efficacy Study to Assess Whether FVIII/VWF Concentrate Can Induce Immune Tolerance in Haemophilia A Patients Recruiting NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
11 Assessment of the Risk of Inhibitor Formation in Previously Treated Patients With Severe Hemophilia A Terminated NCT00621673 Phase 4 Kogenate (BAY 14-2222)
12 Multicentre, Non-controlled, Prospective, Post-Marketing Safety Study Following Long-Term Prophylactic OptivateTreatment in Subjects With Severe Haemophilia A Terminated NCT01811875 Phase 4
13 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
14 Study of Emicizumab Prophylaxis in Participants With Hemophilia A and Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
15 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Active, not recruiting NCT03103542 Phase 4
16 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
17 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
18 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4 aPCC, aPCC + TXA;rFVIIa, rFVIIa + TXA
19 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
20 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
21 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Withdrawn NCT00168051 Phase 4 ReFacto;Advante
22 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
23 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A Completed NCT00666406 Phase 4 Antihemophilic Factor (Recombinant) - Plasma/Albumin Free Method (rAHF-PFM);Recombinant Factor VIII (rAHF)
24 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
25 Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free;Antihemophilic factor, recombinant, manufactured protein-free
26 A Study to Evaluate Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Participants With Inhibitors Undergoing the First ITI Treatment (verITI-8 Study) Recruiting NCT03093480 Phase 4
27 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
28 Russian Kogenate Pediatric Study 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)
29 Low-dose ITI Strategy for Children in Hemophilia A With High-titer Inhibitor and Poor ITI Risk in China Recruiting NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab
30 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
31 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
32 Research Study to Look at Side Effects During Regular Injection With Factor VIII Medicine Named Turoctocog Alfa for a 8 Weeks Period Active, not recruiting NCT03449342 Phase 4 turoctocog alfa
33 China ADVATE PTP Study Completed NCT02170402 Phase 4
34 Study Evaluating Safety Of Patients Switching To ReFacto AF In Usual Care Settings Terminated NCT00884390 Phase 4 moroctocog alfa (AF-CC) (ReFacto AF)
35 INdividualized ITI Based on Fviii(ATE) Protection by VWF Recruiting NCT03204539 Phase 4 Wilate
36 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
37 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
38 Pharmacokinetic (PK)Research on Chinese Children of Hemophilia Recruiting NCT03622476 Phase 4 concentrated FVIII
39 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
40 Study Evaluating The Safety Of Xyntha In Usual Care Settings Terminated NCT00765726 Phase 4
41 Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
42 A Study of PEGASYS (Peginterferon Alfa-2a (40KD)) Plus Ribavirin in Hemophiliac Patients With Chronic Hepatitis C. Completed NCT00475072 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin
43 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
44 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
45 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4 activated recombinant human factor VII
46 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
47 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Active, not recruiting NCT00555555 Phase 4
48 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
49 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
50 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4

Search NIH Clinical Center for Factor Viii Deficiency

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Bone, Testes, Liver, Whole Blood, Heart, Bone Marrow, Kidney

Publications for Factor Viii Deficiency

Articles related to Factor Viii Deficiency:

(show top 50) (show all 526)
# Title Authors Year
1
Treatment of choroidal neovascularization in a case of factor VIII deficiency: Ten-year follow-up. ( 29977729 )
2018
2
Management of combined factor V and factor VIII deficiency in pregnancy. ( 29667457 )
2018
3
Acquired Hemophilia A in Aged People: A Systematic Review of Case Reports and Case Series. ( 30502847 )
2018
4
Management of Acquired Hemophilia A in Elderly Patients. ( 30538871 )
2018
5
Prevention and Management of Bleeding Episodes in Patients with Acquired Hemophilia A. ( 30542801 )
2018
6
Acquired Hemophilia A: Experience of a Tertiary Care Institute from North India. ( 30127565 )
2018
7
A case of acquired hemophilia A in an elderly female. ( 30181835 )
2018
8
Successful treatment of acquired hemophilia A associated with immune thrombocytopenia and joint hemarthrosis: A case report and literature review. ( 30235659 )
2018
9
Disseminated microinfarctions of the right kidney requiring nephrectomy: an unusual complication of acquired hemophilia A. ( 30280718 )
2018
10
Acquired hemophilia A developing cerebral infarction 36 days after the frequent administration of bypass hemostatic agents. ( 30283617 )
2018
11
Management of acquired hemophilia A: Review of current evidence. ( 30396835 )
2018
12
Acquired hemophilia A in solid cancer: Two case reports and review of the literature. ( 30510943 )
2018
13
A Successful Coronary Artery Bypass Operation with Intermittent Factor VIII Administration in a Hemophilia A Patient who Applied with Acute Myocardial Infarction: a rare and difficult case. ( 30468434 )
2018
14
Musculoskeletal ultrasonography for arthropathy assessment in patients with hemophilia: A single-center cross-sectional study from Shanxi Province, China. ( 30431602 )
2018
15
Management of Thrombosis Risk in a Carrier of Hemophilia A with Low Factor VIII Levels with Atrial Fibrillation: A Clinical Case and Literature Review. ( 30254772 )
2018
16
Hemophilia A Complicated by Ulcerative Colitis. ( 30298109 )
2018
17
Congenital Hemophilia A Presenting With Hashimoto's Encephalopathy and Myocarditis: The First Reported Case. ( 29240027 )
2018
18
Nivolumab-Induced Hemophilia A Presenting as Gastric Ulcer Bleeding in a Patient With NSCLC. ( 30017828 )
2018
19
Patient-Specific iPSC-Derived Endothelial Cells Provide Long-Term Phenotypic Correction of Hemophilia A. ( 30416049 )
2018
20
The definition, diagnosis and management of mild hemophilia A: communication from the SSC of the ISTH. ( 30430726 )
2018
21
Prevalence of factor VIII inhibitors among Afghan patients with hemophilia A: a first report. ( 30439768 )
2018
22
rFVIIIFC for hemophilia A prophylaxis. ( 30449223 )
2018
23
Suppressing protein Z-dependent inhibition of factor Xa improves coagulation in hemophilia A. ( 30451376 )
2018
24
Evaluating the safety of emicizumab in patients with hemophilia A. ( 30462521 )
2018
25
Management of hydrocephalus in infants with severe hemophilia A: report of 2 cases. ( 30485223 )
2018
26
Clinical outcomes in hemophilia A patients undergoing tailoring of prophylaxis based on population-based pharmacokinetic dosing. ( 30496937 )
2018
27
Anti-factor VIII inhibitors against A2 and C2 domains in hemophilia A patients from India. ( 30502565 )
2018
28
Assay challenges (and opportunities) with non-factor VIII therapies for Hemophilia A. ( 30513018 )
2018
29
Systematic molecular analysis of hemophilia A patients from Colombia. ( 30534853 )
2018
30
Prevention of the anti-factor VIII memory B-cell response by inhibition of the Bruton's tyrosine kinase in experimental hemophilia A. ( 30545924 )
2018
31
FVIII p.Arg1800His mutation is associated with mild/moderate hemophilia A in Chinese population. ( 29756390 )
2018
32
Polymorphisms in the TGF-β1 (rs1982037) and IL-2 (rs2069762, rs4833248) genes are not associated with inhibitor development in Iranian patients with hemophilia A. ( 29993342 )
2018
33
N-linked glycosylation modulates the immunogenicity of recombinant human factor VIII in hemophilia A mice. ( 30002126 )
2018
34
Effect of Erythrocyte Density on Blood Clot Properties in Healthy Individuals and in Patients with Hemophilia A. ( 30003415 )
2018
35
BAY 81-8973, a full-length recombinant factor VIII for the treatment of hemophilia A: product review. ( 30013766 )
2018
36
Defective TAFI activation in hemophilia A mice is a major contributor to joint bleeding. ( 30026184 )
2018
37
Cardiovascular comorbidities in a United States patient population with hemophilia A: A comprehensive chart review. ( 30031341 )
2018
38
HLA-DRB1-factor VIII binding is a risk factor for inhibitor development in nonsevere hemophilia: a case-control study. ( 30037801 )
2018
39
Gene therapy in hemophilia A: a cost-effectiveness analysis. ( 30042145 )
2018
40
Inhibitor development, safety, and efficacy of Advate® in previously untreated patients with hemophilia A in a postmarketing surveillance in Japan. ( 30043332 )
2018
41
Bilateral Forearm Pseudotumors in an Adult with Hemophilia A and Ollier Disease: A Case Report. ( 30045077 )
2018
42
Preventing or Eradicating Factor VIII Antibody Formation in Patients with Hemophilia A: What Can We Learn from Other Disorders? ( 30045390 )
2018
43
Balance, falls, and exercise: Beliefs and experiences in people with hemophilia: A qualitative study. ( 30046715 )
2018
44
Product type and other environmental risk factors for inhibitor development in severe hemophilia A. ( 30046724 )
2018
45
Performing and interpreting individual pharmacokinetic profiles in patients with Hemophilia A or B: Rationale and general considerations. ( 30046759 )
2018
46
Dental extractions in patients with mild hemophilia A and hemophilia B and von Willebrand disease without clotting factor supplementation. ( 30057379 )
2018
47
Posterior Fossa Hemorrhage in a Term Neonate with Hemophilia A. ( 30065516 )
2018
48
Free musculocutaneous flap transfer for refractory chronic empyema with chest wall sinus in a 43-year-old male with hemophilia A. ( 30069395 )
2018
49
Treatment and prevention of bleeding in congenital hemophilia A patients with inhibitors. ( 30093246 )
2018
50
The effect of unmeasurable endogenous plasma factor activity levels on factor VIII dosing in patients with severe hemophilia A. ( 30118868 )
2018

Variations for Factor Viii Deficiency

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
13.26 F2 F5 F8 LMAN1 MCFD2
2
Show member pathways
12.81 F5 F8 LMAN1 MCFD2
3
Show member pathways
12.63 F11 F2 F5 F8 VWF
4
Show member pathways
12.51 F5 F8 LMAN1 MCFD2
5
Show member pathways
12.28 F11 F2 F5 F8
6
Show member pathways
11.56 F11 F2 F5 F8 VWF
7 11.24 F11 F2 F5 F8 LMAN1 VWF
8 11.08 F2 VWF

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 9.83 F11 F2 F5 F8 VWF
2 Golgi membrane GO:0000139 9.62 F5 F8 LMAN1 MCFD2
3 endoplasmic reticulum lumen GO:0005788 9.54 F2 F5 F8
4 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.46 LMAN1 MCFD2
5 ER to Golgi transport vesicle membrane GO:0012507 9.4 LMAN1 MCFD2
6 platelet alpha granule lumen GO:0031093 9.33 F5 F8 VWF
7 platelet alpha granule GO:0031091 9.26 F5 VWF
8 COPII-coated ER to Golgi transport vesicle GO:0030134 9.13 F5 F8 LMAN1
9 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.92 F5 F8 LMAN1 MCFD2

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.65 F2 F5 F8 LMAN1 MCFD2
2 COPII vesicle coating GO:0048208 9.62 F5 F8 LMAN1 MCFD2
3 platelet degranulation GO:0002576 9.58 F5 F8 VWF
4 platelet activation GO:0030168 9.54 F2 F8 VWF
5 response to wounding GO:0009611 9.48 F2 VWF
6 acute-phase response GO:0006953 9.46 F2 F8
7 blood coagulation, intrinsic pathway GO:0007597 9.46 F11 F2 F8 VWF
8 regulation of blood coagulation GO:0030193 9.43 F11 F2
9 blood coagulation GO:0007596 9.43 F11 F2 F5 F8 LMAN1 VWF
10 hemostasis GO:0007599 9.02 F11 F2 F5 F8 VWF

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

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.62 F5 F8

Sources for Factor Viii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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