MCID: SVR056
MIFTS: 47

Severe Hemophilia a

Categories: Blood diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Severe Hemophilia a

MalaCards integrated aliases for Severe Hemophilia a:

Name: Severe Hemophilia a 59
Severe Hereditary Factor Viii Deficiency Disease 73
Severe Factor Viii Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
severe hemophilia a
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA169802
UMLS via Orphanet 74 C0272322
ICD10 via Orphanet 34 D66
UMLS 73 C0272322

Summaries for Severe Hemophilia a

MalaCards based summary : Severe Hemophilia a, also known as severe hereditary factor viii deficiency disease, is related to hemophilia a and hemophilia. An important gene associated with Severe Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. The drugs Thrombin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include testes, skin and bone, and related phenotype is respiratory system.

Related Diseases for Severe Hemophilia a

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a
Severe Hemophilia a

Diseases related to Severe Hemophilia a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 hemophilia a 32.1 F3 F5 F8
2 hemophilia 32.1 F2 F3 F8
3 factor vii deficiency 30.6 F2 F3 F8
4 von willebrand's disease 30.0 F2 F3 F5 F8
5 endocarditis 29.1 F2 FCGR2A IL10 TNF
6 arthritis 29.0 HLA-DQB1 HLA-DRB1 IL10 TNF
7 myocardial infarction 28.5 F2 F3 F5 F8 IL10 TNF
8 moderately severe hemophilia a 12.3
9 paracetamol poisoning 10.9 F2 F5
10 limbic encephalitis with lgi1 antibodies 10.8 HLA-DQB1 HLA-DRB1
11 spinal cord infarction 10.8 F2 F5
12 cerebral falx meningioma 10.8 F2 F3
13 livedoid vasculopathy 10.7 F2 F5
14 factor viii deficiency 10.7 F2 F5 F8
15 thrombophlebitis 10.7 F2 F5 F8
16 post-thrombotic syndrome 10.7 F2 F5 F8
17 sudden sensorineural hearing loss 10.7 F2 F5
18 intracranial thrombosis 10.7 F3 F5 F8
19 intestinal impaction 10.7 F2 F3
20 factor xiii deficiency 10.7 F3 F5 F8
21 fournier gangrene 10.7 F2 F3 F8
22 von willebrand disease, type 1 10.7 F2 F3 F8
23 type 1 diabetes mellitus 12 10.7 CTLA4 HLA-DRB1
24 alcohol-related birth defect 10.7 F2 F3 F8
25 metal allergy 10.7 HLA-DQB1 HLA-DRB1
26 inherited blood coagulation disease 10.7 F2 F3 F8
27 focal epithelial hyperplasia 10.7 HLA-DQB1 HLA-DRB1
28 hypersomnia 10.7 HLA-DQB1 HLA-DRB1
29 hemophilia b 10.7 F2 F3 F8
30 afibrinogenemia, congenital 10.7 F2 F3 F8
31 marburg hemorrhagic fever 10.7 F2 TNF
32 cerebral sinovenous thrombosis 10.6 F2 F3 F5
33 autoimmune addison disease 10.6 CTLA4 HLA-DRB1
34 sagittal sinus thrombosis 10.6 F2 F3 F5
35 lichen planopilaris 10.6 HLA-DQB1 HLA-DRB1
36 peripheral vertigo 10.6 F2 F3 F5
37 glanzmann thrombasthenia 10.6 F2 F3 F8
38 blood platelet disease 10.6 F2 F3 F8
39 compartment syndrome 10.6 F2 F8 TNF
40 protein s deficiency 10.6 F2 F3 F5
41 thrombasthenia 10.6 F2 F3 F5
42 punctate inner choroidopathy 10.6 IL10 TNF
43 juvenile myasthenia gravis 10.6 HLA-DRB1 IL10
44 factor x deficiency 10.6 F2 F3 F5
45 type ii mixed cryoglobulinemia 10.6 HLA-DQB1 HLA-DRB1
46 disseminated intravascular coagulation 10.6 F2 F3 F5
47 budd-chiari syndrome 10.6 F2 F3 F5
48 antiphospholipid syndrome 10.6 F2 F3 F5
49 tropical endomyocardial fibrosis 10.6 IL10 TNF
50 heparin-induced thrombocytopenia 10.5 F3 FCGR2A

Graphical network of the top 20 diseases related to Severe Hemophilia a:



Diseases related to Severe Hemophilia a

Symptoms & Phenotypes for Severe Hemophilia a

MGI Mouse Phenotypes related to Severe Hemophilia a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.17 CTLA4 F2 F3 HLA-DQB1 HMOX1 IL10

Drugs & Therapeutics for Severe Hemophilia a

Drugs for Severe Hemophilia a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4,Not Applicable
2
Benzocaine Approved, Investigational Phase 4,Phase 3 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 4,Phase 3
4 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
5 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Hemostatics Phase 4,Phase 3,Not Applicable
7 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
8 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
9 Immunoglobulin Fc Fragments Phase 3,Phase 2,Phase 1
10 Antibodies, Bispecific Phase 3
11
rituximab Approved Phase 2 174722-31-7 10201696
12 Anticoagulants Phase 2
13 Antirheumatic Agents Phase 2
14 Blood Coagulation Factor Inhibitors Phase 2
15
Tranexamic Acid Approved Not Applicable 1197-18-8 5526
16
Protein C Approved
17
Serine Approved, Nutraceutical 56-45-1 5951
18
protease inhibitors
19 Fibrinolytic Agents
20 Serine Proteinase Inhibitors
21 Thromboplastin
22 HIV Protease Inhibitors
23 Factor Xa Inhibitors
24 Antifibrinolytic Agents Not Applicable
25 Lipoprotein-associated coagulation inhibitor
26 Antithrombin III
27 Antithrombins
28 Antibodies, Blocking
29 protein S
30 Lupus Coagulation Inhibitor

Interventional clinical trials:

(show top 50) (show all 149)
# 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 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
3 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)
4 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
5 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
6 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
7 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
8 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
9 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
10 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
11 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)
12 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
13 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
14 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
15 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
16 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
17 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
18 Research Study to Look at Side Effects During Regular Injection With Factor VIII Medicine Named Turoctocog Alfa for a 8 Weeks Period Recruiting NCT03449342 Phase 4 turoctocog alfa
19 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Recruiting NCT03103542 Phase 4
20 Assessment of the Risk of Inhibitor Formation in Previously Treated Patients With Severe Hemophilia A Terminated NCT00621673 Phase 4 Kogenate (BAY 14-2222)
21 Multicentre, Non-controlled, Prospective, Post-Marketing Safety Study Following Long-Term Prophylactic OptivateTreatment in Subjects With Severe Haemophilia A Terminated NCT01811875 Phase 4
22 Safety and Efficacy Extension Study of GreenGene™ F in Previously Treated Patients Diagnosed With Severe Hemophilia A Unknown status NCT02027779 Phase 3
23 Safety, Efficacy and Pharmacokinetics of GreenGene™ F to Previously Treated Patients With Severe Hemophilia A Unknown status NCT01619046 Phase 3
24 Efficacy and Safety Study of Human-cl rhFVIII in PTPs With Severe Hemophilia A Completed NCT01125813 Phase 3
25 Assess the Safety and Efficacy of Individually Tailored Prophylaxis With Human-cl rhFVIII in Patients With Severe Haemophilia A Completed NCT01863758 Phase 3
26 Clinical Study to Investigate the PK, Efficacy, and Safety of Wilate in Patients With Severe Hemophilia A Completed NCT02954575 Phase 3 Wilate
27 Study to Evaluate the Safety, Pharmacokinetics and Efficacy of Recombinant Factor VIII Fc Fusion Protein (rFVIIIFc) in Previously Treated Subjects With Severe Hemophilia A Completed NCT01181128 Phase 3 Factor VIII (rFVIIIFc);Advate®
28 Pharmacokinetics and Safety of rFVIIIFc Manufactured at 15,000 L (15K) Scale Completed NCT02502149 Phase 3
29 Study to Investigate the Long-term Efficacy and Safety of Human-cl rhFVIII in Previously Treated Patients (PTPs) Completed NCT01341912 Phase 3
30 Phase 3 Efficacy and Safety Study of BAX 855 in Severe Hemophilia A Patients Undergoing Surgical Procedures Completed NCT01913405 Phase 3
31 Pharmacokinetic, Efficacy, and Safety Study of Recombinant Factor VIII Single Chain (rVIII-SingleChain) in Children With Severe Hemophilia A Completed NCT02093897 Phase 3
32 A Trial to Compare Prophylaxis Therapy to On-demand Therapy With a New Full Length Recombinant FVIII in Patients With Severe Hemophilia A Completed NCT01233258 Phase 3
33 An Open Study to Investigate the Safety and Efficacy of Optivate® in Severe Haemophilia A Patients. Completed NCT02246868 Phase 3
34 Study Evaluating ReFacto AF in Severe Hemophilia A Completed NCT00037544 Phase 3 ReFacto AF
35 Trial to Evaluate the Effect of Secondary Prophylaxis With rFVIII Therapy in Severe Hemophilia A Adult and/or Adolescent Subjects Compared to That of Episodic Treatment Completed NCT00623480 Phase 3
36 Study Investigating a PEGylated Recombinant Factor VIII (BAX 855) for Hemophilia A (PROLONG-ATE Study) Completed NCT01736475 Phase 2, Phase 3
37 Pharmacokinetics, Efficacy and Safety Study of IMMUNATE SD (Human Plasma-Derived Coagulation Factor VIII Concentrate) in Hemophilia A Patients Completed NCT00162019 Phase 3 Human Plasma-Derived Coagulation Factor VIII Concentrate (Virus Inactivated by Polysorbate 80 Treatment and Vapor Heat Treatment)
38 An Open-label Safety, Efficacy and Pharmacokinetic Study of a Recombinant FVIII Compared to Recombinant Human Antihemophilic FVIII in Patients With Severe Hemophilia A Completed NCT01486927 Phase 2, Phase 3
39 A Study to Compare the Pharmacokinetics and Safety of Current Factor VIII Concentrate and Optivate® in Haemophilia A. Completed NCT02246881 Phase 3
40 A Study to Investigate the Safety and Efficacy of Optivate® in Children Under 6 Years of Age With Haemophilia A. Completed NCT02246894 Phase 3
41 BAX 855 Pediatric Study Completed NCT02210091 Phase 3
42 Trial to Evaluate the Efficacy and Safety of a New Full Length Recombinant Human FVIII for Hemophilia A Completed NCT01029340 Phase 3
43 Efficacy and Safety Study of a Recombinant and Protein-Free Factor VIII (rAHF-PFM) in Pediatric Patients in Canada With Hemophilia A - A Continuation of Baxter Study 060101 Completed NCT00189982 Phase 2, Phase 3 Antihemophilic Factor Manufactured and Formulated without Added Human or Animal Proteins (rAHF-PFM)
44 Study Evaluating Prophylaxis Treatment & Characterizing Efficacy, Safety, & PK Of B-Domain Deleted Recombinant FVIII Completed NCT00543439 Phase 3
45 Study Evaluating B-Domain Deleted Recombinant Factor VIII (BDDrFVIII, ReFacto AF) in Patients With Hemophilia A Undergoing Elective Major Surgery Completed NCT00243659 Phase 3
46 A Phase 2/ 3 Trial to Evaluate the Efficacy and Safety of BAY86-6150 Completed NCT01625390 Phase 2, Phase 3 BAY86-6150;eptacog alfa [activated];BAY86-6150
47 Pharmacokinetics, Efficacy, Safety, and Immunogenicity of Wilate in Previously Treated Paediatric Patients With Severe Haemophilia A Recruiting NCT03376516 Phase 3 Wilate
48 An Open-label Safety and Efficacy Study of Recombinant FVIII in Patients With Severe Hemophilia A Recruiting NCT02172950 Phase 3
49 An Open Label Study to Determine the Safety and Efficacy of Replacement Factor VIII Protein (Known as rFVIIIFc) in Untreated Males With Severe Hemophilia A Recruiting NCT02234323 Phase 3
50 BAX 855 Previously Untreated Patient (PUP) Recruiting NCT02615691 Phase 3

Search NIH Clinical Center for Severe Hemophilia a

Genetic Tests for Severe Hemophilia a

Anatomical Context for Severe Hemophilia a

MalaCards organs/tissues related to Severe Hemophilia a:

41
Testes, Skin, Bone, T Cells, Lung

Publications for Severe Hemophilia a

Articles related to Severe Hemophilia a:

(show top 50) (show all 176)
# Title Authors Year
1
Modified Primary Prophylaxis in Previously Untreated Patients With Severe Hemophilia A in Iran. ( 29356759 )
2018
2
Successful endoscopic sphincterotomy for choledocholithiasis in a patient with severe hemophilia A and inhibitors. ( 29396835 )
2018
3
Cost analysis of plasma-derived factor VIII/von Willebrand factor versus recombinant factor VIII for treatment of previously untreated patients with severe hemophilia A in the United States. ( 29681200 )
2018
4
Assessment of Relative Bioavailability of Moroctocog Alfa and Moroctocog Alfa (AF-CC) in Subjects With Severe Hemophilia A. ( 29575770 )
2018
5
Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A. ( 29025913 )
2018
6
The rare coexistence of high titer inhibitor development and gastrointestinal stromal tumor in a patient with severe hemophilia: A case report. ( 29724628 )
2018
7
Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report. ( 29383626 )
2018
8
Pharmacokinetic Studies of Factor VIII in Chinese Boys with Severe Hemophilia A: A Single-Center Study. ( 29848837 )
2018
9
Homeopathic Medicine Reduces Pain and Hemarthrosis in Moderate and Severe Hemophilia: A Multicentric Study. ( 29807367 )
2018
10
Risk factors for inhibitor development in severe hemophilia a. ( 29879570 )
2018
11
Ethnicity-specific impact of HLA I/II genotypes on the risk of inhibitor development: data from Korean patients with severe hemophilia A. ( 29766236 )
2018
12
F8 inversions of introns 22 and 1 confer a moderate risk of inhibitors in Mexican patients with severe hemophilia A. Concordance analysis and literature review. ( 29544691 )
2018
13
Pulpotomy management using laser diode in pediatric patient with severe hemophilia A under general anesthesia-A case report. ( 29537665 )
2018
14
Oxidation of factor VIII increases its immunogenicity in mice with severe hemophilia A. ( 29395036 )
2018
15
Minimally Invasive Aortic Valve Replacement in a Patient With Severe Hemophilia A. ( 28153454 )
2017
16
Safety, efficacy and pharmacokinetics of rVIII-SingleChain in children with severe hemophilia A: results of a multicenter clinical trial. ( 28166608 )
2017
17
AAV5-Factor VIII Gene Transfer in Severe Hemophilia A. ( 29224506 )
2017
18
Mortality caused by intracranial bleeding in non-severe hemophilia A patients: comment. ( 28600843 )
2017
19
A case report of acute inferior myocardial infarction in a patient with severe hemophilia A after recombinant factor VIII infusion. ( 29384900 )
2017
20
CannavA^ A, Valsecchi C, Garagiola I, et al. Nonneutralizing antibodies against factor VIII and risk of inhibitor development in severe hemophilia A. Blood. 2017;129(10):1245-1250. ( 28705864 )
2017
21
Cost-utility analysis of life-long prophylaxis with recombinant factor VIIIFc vs recombinant factor VIII for the management of severe hemophilia A in Sweden. ( 29139314 )
2017
22
IgG subclasses of FVIII inhibitors in an argentine cohort of severe hemophilia A patients: Analysis by flow cytometry. ( 28612430 )
2017
23
Efficacy of standard prophylaxis versus on-demand treatment with bayer's sucrose-formulated recombinant FVIII (rFVIII-FS) in Chinese children with severe hemophilia A. ( 28727494 )
2017
24
Mortality caused by intracranial bleeding in non-severe hemophilia A patients. ( 28374963 )
2017
25
Point-of-care ultrasonography (POCUS) in hemophilia A: a commentary on current status and its potential role for improving prophylaxis management in severe hemophilia A. ( 28491266 )
2017
26
Iranian Low-dose Escalating Prophylaxis Regimen in Children with Severe Hemophilia A and B. ( 28049359 )
2017
27
Discarding Occam's Razor: Atypical Bruising in Severe Hemophilia A. ( 28952372 )
2017
28
Assessment of healthcare measures, healthcare resource use, and cost of care among severe hemophilia A patients in Mumbai region of India. ( 29067924 )
2017
29
Mortality caused by intracranial bleeding in non-severe hemophilia A patients: reply. ( 28618141 )
2017
30
Two-incision laparoscopic appendectomy for a severe hemophilia A child patient with coagulation factor VII deficiency: Case report and review of literature. ( 29019885 )
2017
31
Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort. ( 28294101 )
2017
32
Open repair of intraoperative popliteal artery injury during total knee arthroplasty in a patient with severe hemophilia A: A case report and literature review. ( 29145340 )
2017
33
PK-driven prophylaxis versus standard prophylaxis: When a tailored treatment may be a real and achievable cost-saving approach in children with severe hemophilia A. ( 28692842 )
2017
34
Tailoring hemostatic therapies to lower inhibitor development in previously untreated patients with severe hemophilia A. ( 27155314 )
2016
35
Hemodialysis in a patient with severe hemophilia A and factor VIII inhibitor. ( 27149570 )
2016
36
Thromboelastography during coronary artery bypass grafting surgery of severe hemophilia A patient - the effect of heparin and protamine on factor VIII activity. ( 27273141 )
2016
37
[Detection and genetic counseling of F8 gene inversions for patients with severe hemophilia A]. ( 27455009 )
2016
38
Non-neutralizing antibodies against factor VIII and risk of inhibitor development in patients with severe hemophilia A. ( 28034891 )
2016
39
Severe Hemophilia A in a Male Old English Sheep Dog with a Ca89T Transition that Created a Premature Stop Codon in Factor VIII. ( 27780008 )
2016
40
Inhibitors in Severe Hemophilia A: 25-Year Experience in Slovakia. ( 27235830 )
2016
41
Blood Group O Protects against Inhibitor Development in Severe Hemophilia A Patients. ( 27825181 )
2016
42
Matching-adjusted indirect comparisons of efficacy of BAY 81-8973 vs two recombinant factor VIII for the prophylactic treatment of severe hemophilia A. ( 27445511 )
2016
43
Improved Pharmacokinetics with BAY 81-8973 Versus Antihemophilic Factor (Recombinant) Plasma/Albumin-Free Method: A Randomized Pharmacokinetic Study in Patients with Severe Hemophilia A. ( 28005225 )
2016
44
What is the role of an extended half-life product in immune tolerance induction in a patient with severe hemophilia A and high-titer inhibitors? ( 27913541 )
2016
45
Predicting the outcomes of using longer-acting prophylactic factor VIII to treat people with severe hemophilia A: a hypothetical decision analysis. ( 27510890 )
2016
46
Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients. ( 27060170 )
2016
47
The Efficacy of Recombinant FVIII Low-Dose Prophylaxis in Chinese Pediatric Patients With Severe Hemophilia A: A Retrospective Analysis From the ReCARE Study. ( 27920236 )
2016
48
Efficacy and safety of rVIII-SingleChain: results of a phase 1/3 multicenter clinical trial in severe hemophilia A. ( 27330001 )
2016
49
Bentall Operation in a Patient With Severe Hemophilia A and Marfan Syndrome by Use of a Biologic Composite Graft. ( 26897233 )
2016
50
Successful medical management of a neonate with spontaneous splenic rupture and severe hemophilia A. ( 27178624 )
2016

Variations for Severe Hemophilia a

Expression for Severe Hemophilia a

Search GEO for disease gene expression data for Severe Hemophilia a.

Pathways for Severe Hemophilia a

Pathways related to Severe Hemophilia a according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 CTLA4 HLA-DQB1 HLA-DRB1 IFNA1 IL10 TNF
2 12.37 CTLA4 HMOX1 IFNA1 IL10 TNF
3
Show member pathways
12.23 HLA-DQB1 HLA-DRB1 IL10 TNF
4
Show member pathways
11.93 FCGR2A HLA-DQB1 HLA-DRB1 IL10 TNF
5 11.88 F2 F3 F5 F8
6
Show member pathways
11.76 F2 F3 F5 F8 F8A1
7 11.69 HLA-DQB1 HLA-DRB1 TNF
8 11.58 CTLA4 HLA-DQB1 HLA-DRB1 TNF
9 11.52 CTLA4 HLA-DQB1 HLA-DRB1
10 11.35 FCGR2A HLA-DQB1 HLA-DRB1 IFNA1 IL10 TNF
11 11.12 HMOX1 IL10 TNF
12 11.02 HLA-DRB1 IL10 TNF
13 11 FCGR2A HLA-DQB1 HLA-DRB1 IL10

GO Terms for Severe Hemophilia a

Cellular components related to Severe Hemophilia a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.26 CTLA4 F2 HLA-DRB1 TNF
2 extracellular space GO:0005615 9.23 F2 F3 F5 F8 HMOX1 IFNA1

Biological processes related to Severe Hemophilia a according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.91 CTLA4 HLA-DQB1 HLA-DRB1 IL10 TNF
2 cytokine-mediated signaling pathway GO:0019221 9.77 F3 HMOX1 IFNA1 IL10 TNF
3 T cell costimulation GO:0031295 9.67 CTLA4 HLA-DQB1 HLA-DRB1
4 negative regulation of growth of symbiont in host GO:0044130 9.55 IL10 TNF
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.54 HLA-DQB1 HLA-DRB1
6 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.52 IL10 TNF
7 negative regulation of T cell proliferation GO:0042130 9.5 CTLA4 HLA-DRB1 IL10
8 positive regulation of chemokine biosynthetic process GO:0045080 9.48 HMOX1 TNF
9 endothelial cell apoptotic process GO:0072577 9.46 IL10 TNF
10 negative regulation of cytokine secretion involved in immune response GO:0002740 9.43 IL10 TNF
11 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.4 HLA-DQB1 HLA-DRB1
12 blood coagulation GO:0007596 9.35 F2 F3 F5 F8 IFNA1
13 receptor biosynthetic process GO:0032800 9.26 IL10 TNF
14 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.16 HLA-DQB1 HLA-DRB1
15 hemostasis GO:0007599 8.92 F2 F3 F5 F8

Molecular functions related to Severe Hemophilia a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DRB1

Sources for Severe Hemophilia a

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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