HEMB
MCID: HMP004
MIFTS: 66

Hemophilia B (HEMB)

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemophilia B

MalaCards integrated aliases for Hemophilia B:

Name: Hemophilia B 57 12 24 53 59 74 29 13 55 6 44 15 40 72
Factor Ix Deficiency 57 12 24 53 59 74
Christmas Disease 57 75 24 53 59 74
Plasma Thromboplastin Component Deficiency 57 74
F9 Deficiency 57 74
Hemb 57 74
Symptomatic Form of Hemophilia B in Female Carriers 59
Moderately Severe Factor Ix Deficiency 59
Deficiency, Functional Factor Ix 12
Congenital Factor Ix Deficiency 12
Recessive X-Linked Hemophilia B 74
Moderately Severe Hemophilia B 59
Congenital Factor Ix Disorder 12
Severe Factor Ix Deficiency 59
Mild Factor Ix Deficiency 59
Severe Hemophilia B 59
Mild Hemophilia B 59
Hem B 53

Characteristics:

Orphanet epidemiological data:

59
hemophilia b
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;
mild hemophilia b
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
moderately severe hemophilia b
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
severe hemophilia b
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;
symptomatic form of hemophilia b in female carriers
Inheritance: X-linked recessive;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
patient with factor ix leyden variants (see, e.g., ) have bleeding in childhood that improves or resolves after puberty
patients with hemophilia b(m) variants (see, e.g., ) also have prolonged pt
phenotypically indistinguishable from hemophilia a ()


HPO:

32
hemophilia b:
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance All males with an f9 pathogenic variant are affected and will have hemophilia b of approximately the same severity as all other affected males in the family; however, other genetic and environmental effects may modify the clinical severity to some extent....

Classifications:



External Ids:

Disease Ontology 12 DOID:12259
OMIM 57 306900
ICD9CM 35 286.1
MeSH 44 D002836
NCIt 50 C26721
SNOMED-CT 68 41788008
ICD10 33 D67
MESH via Orphanet 45 D002836
ICD10 via Orphanet 34 D67
UMLS via Orphanet 73 C0008533
UMLS 72 C0008533

Summaries for Hemophilia B

OMIM : 57 Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (306700), which results from deficiency of coagulation factor VIII (F8; 300841). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993). Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known. (306900)

MalaCards based summary : Hemophilia B, also known as factor ix deficiency, is related to hemophilia and factor viii deficiency. An important gene associated with Hemophilia B is F9 (Coagulation Factor IX), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Anti-inhibitor coagulant complex and Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are hematuria and intracranial hemorrhage

Disease Ontology : 12 An inherited blood coagulation disease that has material basis in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

NIH Rare Diseases : 53 Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene.

UniProtKB/Swiss-Prot : 74 Hemophilia B: An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma.

Wikipedia : 75 Haemophilia B is a blood clotting disorder causing easy bruising and bleeding due to an inherited... more...

GeneReviews: NBK1495

Related Diseases for Hemophilia B

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a

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

(show top 50) (show all 282)
# Related Disease Score Top Affiliating Genes
1 hemophilia 32.3 F9 F8 F7 F3 F2
2 factor viii deficiency 30.9 F8 F2 F11
3 endocarditis 30.7 SERPINC1 F2
4 squamous cell papilloma 30.3 F3 F2
5 factor xiii deficiency 30.3 F8 F3
6 compartment syndrome 30.2 F8 F2
7 intermediate coronary syndrome 30.1 SERPINC1 F3
8 central retinal vein occlusion 29.9 SERPINC1 F2
9 retinal vein occlusion 29.9 SERPINC1 F2
10 prothrombin deficiency 29.8 F7 F3 F2
11 hemarthrosis 29.8 F9 F8 F7 F10
12 factor xii deficiency 29.7 SERPINC1 F9 F3
13 liver cirrhosis 29.7 SERPINC1 F3 F2
14 thrombasthenia 29.4 F3 F2 EGF
15 von willebrand's disease 29.4 F9 F8 F3 F2 F11
16 hemophilia a 29.2 F9 F8 F7 F3 F11 F10
17 pulmonary embolism 28.6 SERPINC1 F9 F3 F2 F10
18 thrombophilia due to thrombin defect 28.6 SERPINC1 F8 F3 F2 F10
19 acquired hemophilia 28.6 F9 F8 F3 F11 F10
20 factor xi deficiency 28.4 SERPINC1 F9 F3 F2 F11
21 disseminated intravascular coagulation 28.4 SERPINC1 F9 F7 F3 F2
22 thrombophilia 28.1 SERPINC1 F9 F8 F3 F2 F11
23 factor vii deficiency 27.5 F9 F8 F7 F3 F2 F10
24 thrombosis 27.4 SERPINC1 F9 F8 F7 F3 F2
25 myocardial infarction 27.3 SERPINC1 F8 F7 F3 F2 F11
26 hemorrhagic disease 26.7 SERPINC1 F9 F8 F7 F3 F2
27 cerebral falx meningioma 10.5 F3 F2
28 cerebral sinovenous thrombosis 10.5 F3 F2
29 qualitative platelet defect 10.5 F3 F2
30 femoral neuropathy 10.5 F3 F2
31 hantavirus pulmonary syndrome 10.5 F3 F2
32 splenic disease 10.4 F3 F2
33 brachydactyly, type d 10.4 F8 F2
34 arthropathy 10.4
35 endocardium disease 10.4 F3 F2
36 carotid artery thrombosis 10.4 F3 F10
37 mend syndrome 10.3
38 analbuminemia 10.3 F3 F2
39 mesenteric vascular occlusion 10.3 F7 F2
40 nephrotic syndrome 10.3
41 hemophilic arthropathy 10.3
42 malignant skin fibrous histiocytoma 10.3 F9 F7
43 lemierre's syndrome 10.3 F3 F11
44 malignant dermis tumor 10.2 F9 F7
45 congenital disorder of glycosylation, type ia 10.2 SERPINC1 F9
46 spinal cord infarction 10.2 SERPINC1 F2
47 intracranial embolism 10.2 SERPINC1 F2
48 alpha-2-plasmin inhibitor deficiency 10.2 SERPINC1 F2
49 ischemic colitis 10.2 SERPINC1 F2
50 placental insufficiency 10.2 F3 F2

Graphical network of the top 20 diseases related to Hemophilia B:



Diseases related to Hemophilia B

Symptoms & Phenotypes for Hemophilia B

Human phenotypes related to Hemophilia B:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000790
2 intracranial hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002170
3 prolonged bleeding time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003010
4 prolonged partial thromboplastin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003645
5 spontaneous, recurrent epistaxis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004406
6 prolonged bleeding after dental extraction 59 32 hallmark (90%) Very frequent (99-80%) HP:0006298
7 prolonged bleeding after surgery 59 32 hallmark (90%) Very frequent (99-80%) HP:0004846
8 menometrorrhagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0400008
9 poor wound healing 59 32 hallmark (90%) Very frequent (99-80%) HP:0001058
10 joint hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0005261
11 intramuscular hematoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012233
12 cephalohematoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012541
13 delayed onset bleeding 59 32 hallmark (90%) Very frequent (99-80%) HP:0040232
14 reduced factor ix activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0011858
15 osteoarthritis 32 HP:0002758
16 abnormal bleeding 32 HP:0001892
17 gastrointestinal hemorrhage 32 HP:0002239
18 persistent bleeding after trauma 32 HP:0001934
19 prolonged whole-blood clotting time 32 HP:0005542

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
platelet count normal
ptt prolonged
pt normal
platelet function normal
factor ix deficiency

Hematology:
factor ix deficiency

Clinical features from OMIM:

306900

MGI Mouse Phenotypes related to Hemophilia B:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 F10 F11 F2 F3 F7 F9
2 homeostasis/metabolism MP:0005376 9.76 F10 F11 F2 F3 F7 F8
3 immune system MP:0005387 9.5 EGF F11 F2 F3 F8 F9
4 mortality/aging MP:0010768 9.23 F10 F11 F2 F3 F7 F8

Drugs & Therapeutics for Hemophilia B

DrugBank drugs 16 :

# Drug Name Indication DrugBank ID
1 Coagulation Factor IX (Recombinant) For treatment of hemophilia (Christmas disease). DB00100

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

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
6
Didanosine Approved Phase 4 69655-05-6 50599
7
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
8
Zidovudine Approved Phase 4 30516-87-1 35370
9
Indinavir Approved Phase 4 150378-17-9 5362440
10
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
11 HIV Protease Inhibitors Phase 4
12
protease inhibitors Phase 4
13 triamcinolone acetonide Phase 4
14 Triamcinolone hexacetonide Phase 4
15 Triamcinolone diacetate Phase 4
16 Adjuvants, Immunologic Phase 4
17 Protective Agents Phase 4
18 Hylan Phase 4
19 Viscosupplements Phase 4
20 Nucleic Acid Synthesis Inhibitors Phase 4
21 Anti-Infective Agents Phase 4
22 Reverse Transcriptase Inhibitors Phase 4
23 Anti-HIV Agents Phase 4
24 Antiviral Agents Phase 4
25 Anti-Retroviral Agents Phase 4
26 Antimetabolites Phase 4
27 Hemostatics Phase 3
28 Thromboplastin Phase 3
29 Lipoprotein-associated coagulation inhibitor Phase 3
30
Icodextrin Approved, Investigational Phase 2 337376-15-5
31 Liver Extracts Phase 1, Phase 2
32
Rivaroxaban Approved Phase 1 366789-02-8
33
Zinc Approved, Investigational Phase 1 7440-66-6 32051
34
Serine Approved, Nutraceutical Phase 1 56-45-1 5951
35
Dabigatran Investigational Phase 1 211914-51-1
36 Antidotes Phase 1
37 Fibrinolytic Agents Phase 1
38 Antithrombin III Phase 1
39 Serine Proteinase Inhibitors Phase 1
40 Factor Xa Inhibitors Phase 1
41 Anticoagulants Phase 1
42 Antithrombins Phase 1
43
Histamine Approved, Investigational 51-45-6 774
44
Thrombin Approved, Investigational
45
Protein C Approved
46
Sodium citrate Approved, Investigational 68-04-2
47
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
48
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
49
Calcium Approved, Nutraceutical 7440-70-2 271
50
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show top 50) (show all 196)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
5 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
6 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
7 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
8 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
9 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
10 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
11 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
12 A Post Marketing Surveillance (PMS) Study of RIXUBIS in India Recruiting NCT03565237 Phase 4
13 A Phase III Study on the Safety, Pharmacokinetics, and Efficacy of Coagulation Factor VIIa (Recombinant) in Congenital Hemophilia A or B Pediatric Patients From Birth to <12 Years Old With Inhibitors to Factor VIII or IX: PerSept 2 Unknown status NCT02448680 Phase 3
14 Recombinant Factor IX (BAX 326): A Phase 1/3, Prospective, Controlled, Multicenter Study Evaluating Pharmacokinetics, Efficacy, Safety and Immunogenicity in Previously Treated Patients With Severe or Moderately Severe Hemophilia B Completed NCT01174446 Phase 3
15 BAX 326 (Recombinant Factor IX): Evaluation of Safety, Immunogenicity, and Hemostatic Efficacy in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level <= 2%) Hemophilia B - A Continuation Study Completed NCT01286779 Phase 3
16 A Multicenter, Open-label Study To Compare On-demand Treatment To A Prophylaxis Regimen Of Nonacog-alfa (Benefix) In Subjects With Moderately Severe To Severe Hemophilia B (Fix:c</=2%) Completed NCT01335061 Phase 3
17 An Open-Label, Multicenter, Evaluation of the Long-Term Safety and Efficacy of Recombinant Human Coagulation Factor IX Fusion Protein (rFIXFc) in the Prevention and Treatment of Bleeding Episodes in Previously Treated Subjects With Hemophilia B Completed NCT01425723 Phase 3
18 An Open-Label, Single-Arm, Safety and Efficacy Study of Recombinant Human Factor IX (rFIX; BeneFIX®) in Children Less Than 6 Years of Age With Severe Hemophilia B Completed NCT00037557 Phase 3 BeneFIX
19 B-LONG: An Open-Label, Multicenter Evaluation of the Safety, Pharmacokinetics, and Efficacy of Recombinant, Long-acting Coagulation Factor IX Fc Fusion Protein (rFIXFc) in the Prevention and Treatment of Bleeding in Previously Treated Subjects With Severe Hemophilia B Completed NCT01027364 Phase 3 Factor IX (rFIXFc);rFIX
20 A Multicenter, Open-Label Study To Compare On-Demand Treatment With 2 Prophylaxis Regimens of Recombinant Coagulation Factor IX (BeneFIX) Reformulated Drug Product (rFIX-R) In Subjects With Severe Hemophilia B Completed NCT00364182 Phase 3 Recombinant Coagulation Factor IX (BeneFIX);Recombinant Coagulation Factor IX (BeneFIX)
21 A Phase II/III Open-label, Multicenter, Safety and Efficacy Study of a Recombinant Coagulation Factor IX Albumin Fusion Protein (rIX-FP) in Subjects With Hemophilia B Completed NCT01496274 Phase 2, Phase 3
22 An Evaluation Of The Safety And Efficacy Of On-Demand Treatment With BeneFIX (Nonacog Alfa, Recombinant Factor IX) In Chinese Subjects With Hemophilia B Completed NCT00866606 Phase 3
23 An Open-label Safety and Efficacy Study of Recombinant Human Factor IX (rFIX; BeneFIX®) in Previously Treated Patients (PTPs) With Hemophilia B (FIX:C ≤2%) Completed NCT00093171 Phase 3 rFIX
24 A Phase III Open-label, Multicenter, Pharmacokinetic, Safety and Efficacy Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Previously Treated Children With Hemophilia B Completed NCT01662531 Phase 3
25 A Double-Blind, Randomized, Crossover Evaluation of the Pharmacokinetics of Recombinant Human Factor IX (BeneFIX) and a New Formulation of BeneFIX (rFIX-R); and an Open-Label Safety and Efficacy Evaluation of rFIX-R in Previously Treated Patients With Moderate to Severe (FIX:C≤2%) Hemophilia B Completed NCT00093210 Phase 3 rFIX;rFIX-R
26 BAX 326 (Recombinant Factor IX): A Phase 3 Prospective, Multicenter Study Evaluating Efficacy and Safety in Previously Treated Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level 1-2%) Hemophilia B Undergoing Surgical or Other Invasive Procedures Completed NCT01507896 Phase 3
27 Phase I/II/III Pharmacokinetic and Outcome Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
28 BAX 326 (Recombinant Factor IX): A Phase 2/3 Prospective, Uncontrolled, Multicenter Study Evaluating Pharmacokinetics, Efficacy, Safety, and Immunogenicity in Previously Treated Pediatric Patients With Severe (FIX Level < 1%) or Moderately Severe (FIX Level 1-2%) Hemophilia B Completed NCT01488994 Phase 2, Phase 3
29 FEIBA NF: A Prospective, Open-label, Randomized, Parallel Study to Evaluate the Efficacy and Safety of Prophylactic Versus On-Demand Treatment in Subjects With Hemophilia A or B and a High Titer Inhibitor Completed NCT00851721 Phase 3
30 An Open-label, Multicenter Evaluation of Safety, Pharmacokinetics and Efficacy of Recombinant Coagulation Factor IX Fc Fusion Protein, BIIB029, in the Prevention and Treatment of Bleeding Episodes in Pediatric Subjects With Hemophilia B Completed NCT01440946 Phase 3 rFIXFc;FIX
31 An Open-study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Subjects Undergoing Surgery. Completed NCT02250573 Phase 3
32 An Open Study to Investigate the Safety and Efficacy of Replenine®-VF by Continuous Infusion in Haemophilia B Patients Undergoing Major Surgery. Completed NCT02250560 Phase 3
33 An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients. Completed NCT02231944 Phase 3
34 An Open Multi-centre Phase III Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients Under the Age of 6 Years Completed NCT02263469 Phase 3
35 Efficacy and Safety of NNC 0078-0000-0007 in Treatment of Acute Bleeding Episodes in Patients With Congenital Haemophilia and Inhibitors Completed NCT01392547 Phase 3 vatreptacog alfa (activated);eptacog alfa (activated)
36 An Open-label, Multi-centre, Un-controlled Trial to Assess Efficacy and Safety of NNC-0156-0000-0009 During Surgical Procedures in Patients With Haemophilia B Completed NCT01386528 Phase 3 nonacog beta pegol
37 An Open Study to Compare the Pharmacokinetics and Safety of Replenine®-VF and Replenine® or Any Other High Purity Factor IX Concentrate, in Severe Haemophilia B Patients. Completed NCT02263456 Phase 3
38 A PHASE 3, PROSPECTIVE, OPEN-LABEL, RANDOMIZED STUDY TO EVALUATE SAFETY AND EFFICACY OF RECOMBINANT ACTIVATED FVII BI (rFVIIa BI) IN THE TREATMENT OF ACUTE BLEEDING EPISODES PER AN ON-DEMAND REGIMEN IN PATIENTS WITH HEMOPHILIA A OR B WITH INHIBITORS Completed NCT01757405 Phase 3
39 A Phase 2/3, Multicenter, Open-label Clinical Study to Assess the Safety and Efficacy of BAY86-6150 in Subjects With Hemophilia A or B With Inhibitors, Composed of 2 Parts (A & B). Part A: Sequential Cohorts of Four Dose Levels of the Modified rFVIIa BAY86-6150 Assessed in a Non-controlled Dose Response Design in Acutely Bleeding Subjects and for PK/ PD in an Intra-individual Crossover Design Compared With One Fixed Dose of Eptacog Alfa in Non-bleeding Subjects. Part B: Confirmatory Study to Further Investigate the Efficacy and Safety of BAY86-6150 Completed NCT01625390 Phase 2, Phase 3 BAY86-6150;eptacog alfa [activated];BAY86-6150
40 Safety and Efficacy of NNC-0156-0000-0009 After Long-Term Exposure in Patients With Haemophilia B Completed NCT01395810 Phase 3 nonacog beta pegol;nonacog beta pegol;nonacog beta pegol
41 A Phase III Study on the Safety, Pharmacokinetics and Efficacy of Coagulation Factor VIIa (Recombinant) in Congenital Hemophilia A or B Patients With Inhibitors to Factor VIII or IX Completed NCT02020369 Phase 3
42 A Multi-centre, Single-blind Trial Evaluating Safety and Efficacy, Including Pharmacokinetics, of NNC-0156-0000-0009 When Used for Treatment and Prophylaxis of Bleeding Episodes in Patients With Haemophilia B Completed NCT01333111 Phase 3 nonacog beta pegol;nonacog beta pegol;nonacog beta pegol
43 Phase III, Open-label, Single-dose, Multi-center, Multinational Trial Investigating a Serotype 5 Adeno-associated Viral Vector Containing the Padua Variant of a Codon-optimized Human Factor IX Gene (AAV5-hFIXco-Padua, AMT-061) Administered to Adult Subjects With Severe or Moderately Severe Hemophilia B Recruiting NCT03569891 Phase 3
44 ATLAS-A/B: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, Without Inhibitory Antibodies to Factor VIII or IX Recruiting NCT03417245 Phase 3 fitusiran;factor VIII or factor IX
45 ATLAS-INH: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, With Inhibitory Antibodies to Factor VIII or IX Recruiting NCT03417102 Phase 3 fitusiran;recombinant Factor VIIa and FEIBA
46 A Phase 3b Open-label, Multicenter, Safety and Efficacy Extension Study of a Recombinant Coagulation Factor IX Albumin Fusion Protein (rIX-FP) in Subjects With Hemophilia B Recruiting NCT02053792 Phase 3
47 AN OPEN-LABEL, NON-INVESTIGATIONAL PRODUCT, LEAD-IN STUDY TO EVALUATE AT LEAST 6 MONTHS OF PROSPECTIVE EFFICACY AND SAFETY DATA OF FACTOR IX OR FACTOR VIII PROPHYLAXIS REPLACEMENT THERAPY IN THE USUAL CARE SETTING OF MODERATELY SEVERE TO SEVERE ADULT HEMOPHILIA B SUBJECTS (FIX:C≤2%) WHO ARE NEGATIVE FOR nAb TO AAV VECTOR-SPARK100 AND MODERATELY SEVERE TO SEVERE HEMOPHILIA A ADULT SUBJECTS (FVIII:C≤1%) WHO ARE NEGATIVE FOR nAb to AAV VECTOR SB-525 CAPSID (AAV6), PRIOR TO THE RESPECTIVE THERAPEUTIC PH 3 GENE THERAPY STUDIES (See Detailed Description Section for Official Protocol Title) Recruiting NCT03587116 Phase 3 Standard of Care FIX Replacement therapy;Standard of Care FVIII Replacement therapy
48 An Open-label Single-arm Multicentre Non-controlled Phase 3 a Trial Investigating Safety and Efficacy of Nonacog Beta Pegol (N9-GP) in Prophylaxis and Treatment of Bleeding Episodes in Previously Untreated Patients With Haemophilia B (FIX Activity Below or Equal to 2 Percent) Recruiting NCT02141074 Phase 3 nonacog beta pegol
49 An Open-Label, Multicentre, Long-Term Follow-Up Study to Investigate the Safety and Durability of Response Following Dosing of a Novel Adeno-Associated Viral Vector (FLT180a) in Patients With Haemophilia B Recruiting NCT03641703 Phase 2, Phase 3
50 An Open-Label, Multicenter Evaluation of the Safety and Efficacy of Recombinant Coagulation Factor IX Fc Fusion Protein (rFIXFc; BIIB029) in the Prevention and Treatment of Bleeding in Previously Untreated Patients With Severe Hemophilia B Active, not recruiting NCT02234310 Phase 3

Search NIH Clinical Center for Hemophilia B

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Coagulation Factor IX (Recombinant)
nonacog alfa
recombinant FVIIa

Cochrane evidence based reviews: hemophilia b

Genetic Tests for Hemophilia B

Genetic tests related to Hemophilia B:

# Genetic test Affiliating Genes
1 Hemophilia B(m) 29

Anatomical Context for Hemophilia B

MalaCards organs/tissues related to Hemophilia B:

41
Liver, Brain, Testes, Bone, T Cells, Skeletal Muscle, Whole Blood

Publications for Hemophilia B

Articles related to Hemophilia B:

(show top 50) (show all 1873)
# Title Authors PMID Year
1
Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. 9 38 8 71
15266608 2004
2
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). 9 38 8 71
1986380 1991
3
Genotype analysis identifies the cause of the "royal disease". 38 8 71
19815722 2009
4
Somatic mosaicism and compound heterozygosity in female hemophilia B. 38 8 71
10942410 2000
5
Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome. 38 8 71
9590153 1998
6
Comparison of the behavior of normal factor IX and the factor IX Bm variant Hilo in the prothrombin time test using tissue factors from bovine, human, and rabbit sources. 38 8 71
8352232 1993
7
Nucleotide substitutions at the -6 position in the promoter region of the factor IX gene result in different severity of hemophilia B Leyden: consequences for genetic counseling. 38 8 71
8478007 1993
8
T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. 38 8 71
1864609 1991
9
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. 38 8 71
2198809 1990
10
A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel). 38 8 71
2762170 1989
11
DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited. 38 8 71
3411192 1988
12
The putative factor IX gene promoter in hemophilia B Leyden. 38 8 71
3416069 1988
13
A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred. 38 8 71
2841226 1988
14
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. 38 8 71
3029178 1987
15
Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene. 38 8 71
2992643 1985
16
Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty. 38 8 71
7062952 1982
17
The abnormal factor IX of hemophilia B+ variants. 38 8 71
734633 1978
18
Hemophilia B: characterization of genetic variants and detection of carriers. 38 8 71
884315 1977
19
Haemophilia Bm: a new type of factor-IX deficiency. 38 8 71
4163943 1967
20
Six characters in search of an author: the history of the nomenclature of coagulation factors. 8 71
12780784 2003
21
Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX. 8 71
8318985 1993
22
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. 8 71
1598234 1992
23
Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. 8 71
1615485 1992
24
A less severe form of Haemophilia B Leyden. 8 71
2388855 1990
25
Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD). 8 71
2370049 1990
26
Unusual case of haemophilia B. 8 71
2565449 1989
27
Molecular pathology of haemophilia B. 8 71
2743975 1989
28
Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies. 8 71
2848757 1988
29
Gene deletion in an Italian haemophilia B subject. 8 71
4045960 1985
30
Gene deletions in patients with haemophilia B and anti-factor IX antibodies. 8 71
6843667 1983
31
Another genetic variant of haemophilia B: haemophilia B Leyden. 8 71
5450691 1970
32
Christmas disease, color-blindness and blood group Xga. 8 71
5298508 1967
33
Christmas disease: a condition previously mistaken for haemophilia. 8 71
12997790 1952
34
Bleeding in carriers of hemophilia. 4 8
16551972 2006
35
AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. 9 38 8
12515715 2003
36
Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B. 9 38 8
11380446 2001
37
Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age. 4 8
10647899 1999
38
Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector. 9 38 8
9883840 1999
39
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 9 38 71
1346975 1992
40
An A to T transversion at position -5 of the factor IX promoter results in hemophilia B. 9 38 71
1733855 1992
41
Expression of human factor IX in rat capillary endothelial cells: toward somatic gene therapy for hemophilia B. 9 38 8
1896457 1991
42
Expression of human factor IX in rabbit hepatocytes by retrovirus-mediated gene transfer: potential for gene therapy of hemophilia B. 9 38 8
2385589 1990
43
Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant. 38 8
29211678 2017
44
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. 38 8
22149959 2011
45
Inhibitors in factor IX deficiency a report of the ISTH-SSC international FIX inhibitor registry (1997-2006). 9 38 4
19515028 2009
46
An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden. 38 8
19416882 2009
47
Clinical manifestations and management of labor and delivery in women with factor IX deficiency. 9 38 4
15357775 2004
48
A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs. 38 8
14722728 2003
49
Hemophilia B 38 71
20301668 2000
50
The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation. 38 8
10874302 2000

Variations for Hemophilia B

ClinVar genetic disease variations for Hemophilia B:

6 (show top 50) (show all 118)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F9 NC_000023.10: g.(?_138612918)_(138644235_?)del deletion Pathogenic X:138612918-138644235 X:139530759-139562076
2 F9 F9, 1-BP DEL, ASP85FS deletion Pathogenic
3 F9 NM_000133.3(F9): c.1120G> T (p.Val374Phe) single nucleotide variant Pathogenic rs137852271 X:138643964-138643964 X:139561805-139561805
4 F9 F9, EX5-8DEL deletion Pathogenic
5 F9 F9, EX7DEL deletion Pathogenic
6 F9 F9, EX51INS insertion Pathogenic
7 F9 F9, ARG-4TRP single nucleotide variant Pathogenic
8 F9 F9, ARG-1SER undetermined variant Pathogenic
9 F9 F9, GLU7ASP undetermined variant Pathogenic
10 F9 NM_000133.3(F9): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs137852223 X:138619249-138619249 X:139537090-139537090
11 F9 NM_000133.3(F9): c.52T> C (p.Cys18Arg) single nucleotide variant Pathogenic rs387906474 X:138612975-138612975 X:139530816-139530816
12 F9 F9, ARG-4GLN single nucleotide variant Pathogenic
13 F9 NM_000133.3(F9): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs387906475 X:138613002-138613002 X:139530843-139530843
14 F9 NM_000133.3(F9): c.218A> T (p.Glu73Val) single nucleotide variant Pathogenic rs137852226 X:138619298-138619298 X:139537139-139537139
15 F9 NM_000133.3(F9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs137852227 X:138619303-138619303 X:139537144-139537144
16 F9 NM_000133.3(F9): c.237A> C (p.Glu79Asp) single nucleotide variant Pathogenic rs137852229 X:138619317-138619317 X:139537158-139537158
17 F9 F9, IVS3DS, T-G single nucleotide variant Pathogenic
18 F9 NM_000133.3(F9): c.278A> G (p.Asp93Gly) single nucleotide variant Pathogenic rs137852230 X:138623235-138623235 X:139541076-139541076
19 F9 NM_000133.3(F9): c.287A> C (p.Gln96Pro) single nucleotide variant Pathogenic rs137852231 X:138623244-138623244 X:139541085-139541085
20 F9 NM_000133.3(F9): c.301C> G (p.Pro101Ala) single nucleotide variant Pathogenic rs137852232 X:138623258-138623258 X:139541099-139541099
21 F9 NM_000133.3(F9): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852233 X:138623273-138623273 X:139541114-139541114
22 F9 NM_000133.3(F9): c.329A> G (p.Asp110Gly) single nucleotide variant Pathogenic rs137852234 X:138623286-138623286 X:139541127-139541127
23 F9 NM_000133.3(F9): c.479G> C (p.Gly160Ala) single nucleotide variant Pathogenic rs137852235 X:138630609-138630609 X:139548450-139548450
24 F9 NM_000133.3(F9): c.496A> T (p.Asn166Tyr) single nucleotide variant Pathogenic rs137852236 X:138630626-138630626 X:139548467-139548467
25 F9 F9, TRP194TER undetermined variant Pathogenic
26 F9 NM_000133.3(F9): c.571C> T (p.Arg191Cys) single nucleotide variant Pathogenic rs137852237 X:138633271-138633271 X:139551112-139551112
27 F9 NM_000133.3(F9): c.572G> A (p.Arg191His) single nucleotide variant Pathogenic rs137852238 X:138633272-138633272 X:139551113-139551113
28 F9 F9, IVS7AS, G-A single nucleotide variant Pathogenic
29 F9 NM_000133.3(F9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs137852248 X:138643724-138643724 X:139561565-139561565
30 F9 NM_000133.3(F9): c.655C> T (p.Gln219Ter) single nucleotide variant Pathogenic rs137852239 X:138633355-138633355 X:139551196-139551196
31 F9 NM_000133.3(F9): c.676C> T (p.Arg226Trp) single nucleotide variant Pathogenic rs137852240 X:138633376-138633376 X:139551217-139551217
32 F9 NM_000133.3(F9): c.677G> A (p.Arg226Gln) single nucleotide variant Pathogenic rs137852241 X:138633377-138633377 X:139551218-139551218
33 F9 NM_000133.3(F9): c.541G> T (p.Val181Phe) single nucleotide variant Pathogenic rs387906477 X:138633241-138633241 X:139551082-139551082
34 F9 NM_000133.3(F9): c.682G> T (p.Val228Phe) single nucleotide variant Pathogenic rs137852243 X:138633382-138633382 X:139551223-139551223
35 F9 NM_000133.3(F9): c.682G> C (p.Val228Leu) single nucleotide variant Pathogenic rs137852243 X:138633382-138633382 X:139551223-139551223
36 F9 NM_000133.3(F9): c.709C> T (p.Gln237Ter) single nucleotide variant Pathogenic rs137852244 X:138633409-138633409 X:139551250-139551250
37 F9 NM_000133.3(F9): c.710A> T (p.Gln237Leu) single nucleotide variant Pathogenic rs137852245 X:138633410-138633410 X:139551251-139551251
38 F9 F9, IVS6DS, G-T single nucleotide variant Pathogenic
39 F9 F9, TRP215TER undetermined variant Pathogenic
40 F9 NM_000133.3(F9): c.804T> G (p.Cys268Trp) single nucleotide variant Pathogenic rs137852246 X:138642980-138642980 X:139560821-139560821
41 F9 NM_000133.3(F9): c.697G> A (p.Ala233Thr) single nucleotide variant Pathogenic rs387906478 X:138633397-138633397 X:139551238-139551238
42 F9 NM_000133.3(F9): c.881G> A (p.Arg294Gln) single nucleotide variant Pathogenic rs137852249 X:138643725-138643725 X:139561566-139561566
43 F9 NM_000133.3(F9): c.892C> T (p.Arg298Ter) single nucleotide variant Pathogenic rs137852250 X:138643736-138643736 X:139561577-139561577
44 F9 NM_000133.3(F9): c.917A> G (p.Asn306Ser) single nucleotide variant Pathogenic rs137852251 X:138643761-138643761 X:139561602-139561602
45 F9 NM_000133.3(F9): c.998C> T (p.Pro333Leu) single nucleotide variant Pathogenic rs137852252 X:138643842-138643842 X:139561683-139561683
46 F9 NM_000133.3(F9): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs137852253 X:138643853-138643853 X:139561694-139561694
47 F9 NM_000133.3(F9): c.1025C> T (p.Thr342Met) single nucleotide variant Pathogenic rs137852254 X:138643869-138643869 X:139561710-139561710
48 F9 NM_000133.3(F9): c.1058T> C (p.Val353Ala) single nucleotide variant Pathogenic rs137852255 X:138643902-138643902 X:139561743-139561743
49 F9 NM_000133.3(F9): c.1064G> T (p.Gly355Val) single nucleotide variant Pathogenic rs137852256 X:138643908-138643908 X:139561749-139561749
50 F9 F9, TRP310TER undetermined variant Pathogenic

UniProtKB/Swiss-Prot genetic disease variations for Hemophilia B:

74 (show top 50) (show all 138)
# Symbol AA change Variation ID SNP ID
1 F9 p.Ile17Asn VAR_006521
2 F9 p.Cys28Arg VAR_006522 rs387906481
3 F9 p.Val30Ile VAR_006523
4 F9 p.Arg43Gln VAR_006524 rs127570847
5 F9 p.Arg43Leu VAR_006525 rs127570847
6 F9 p.Arg43Trp VAR_006526
7 F9 p.Lys45Asn VAR_006527
8 F9 p.Arg46Ser VAR_006528
9 F9 p.Arg46Thr VAR_006529
10 F9 p.Asn48Ile VAR_006530
11 F9 p.Ser49Pro VAR_006531
12 F9 p.Glu53Ala VAR_006532
13 F9 p.Glu54Gly VAR_006533
14 F9 p.Phe55Cys VAR_006534
15 F9 p.Gly58Ala VAR_006535
16 F9 p.Gly58Arg VAR_006536
17 F9 p.Glu66Val VAR_006538
18 F9 p.Glu67Lys VAR_006539 rs141008007
19 F9 p.Phe71Ser VAR_006540
20 F9 p.Glu73Lys VAR_006541 rs137852225
21 F9 p.Glu73Val VAR_006542 rs137852226
22 F9 p.Tyr91Cys VAR_006543
23 F9 p.Asp93Gly VAR_006544 rs137852230
24 F9 p.Gln96Pro VAR_006545 rs137852231
25 F9 p.Cys97Ser VAR_006546
26 F9 p.Pro101Arg VAR_006547
27 F9 p.Cys102Arg VAR_006548
28 F9 p.Gly106Ser VAR_006549 rs137852233
29 F9 p.Cys108Ser VAR_006550
30 F9 p.Asp110Asn VAR_006551 rs137852274
31 F9 p.Ile112Ser VAR_006552
32 F9 p.Asn113Lys VAR_006553
33 F9 p.Tyr115Cys VAR_006554
34 F9 p.Cys119Phe VAR_006555
35 F9 p.Cys119Arg VAR_006556
36 F9 p.Gly125Glu VAR_006557
37 F9 p.Gly125Val VAR_006558
38 F9 p.Ile136Thr VAR_006560
39 F9 p.Gly139Asp VAR_006561 rs121651607
40 F9 p.Gly139Ser VAR_006562
41 F9 p.Cys155Phe VAR_006563 rs133070598
42 F9 p.Gly160Glu VAR_006564
43 F9 p.Gln167His VAR_006565
44 F9 p.Cys178Arg VAR_006566
45 F9 p.Cys178Trp VAR_006567
46 F9 p.Arg191His VAR_006568 rs137852238
47 F9 p.Arg191Cys VAR_006569 rs137852237
48 F9 p.Arg226Trp VAR_006570 rs137852240
49 F9 p.Arg226Gly VAR_006571
50 F9 p.Arg226Gln VAR_006572 rs137852241

Copy number variations for Hemophilia B from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 259590 X 138440560 138473283 Insertion F9 Hemophilia B

Expression for Hemophilia B

Search GEO for disease gene expression data for Hemophilia B.

Pathways for Hemophilia B

Pathways related to Hemophilia B according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 SERPINC1 F9 F8 F7 F3 F2
2
Show member pathways
12.48 SERPINC1 F9 F8 F7 F3 F2
3
Show member pathways
11.76 SERPINC1 F9 F8 F7 F3 F2
4
Show member pathways
11.7 F9 F7 F2 F10
5 11.37 SERPINC1 F9 F8 F7 F3 F2
6 10.8 F9 F7 F2 F10

GO Terms for Hemophilia B

Cellular components related to Hemophilia B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.81 SERPINC1 F9 F8 F7 F3 F2
2 Golgi lumen GO:0005796 9.56 F9 F7 F2 F10
3 endoplasmic reticulum lumen GO:0005788 9.43 SERPINC1 F9 F8 F7 F2 F10
4 intrinsic component of external side of plasma membrane GO:0031233 9.4 F3 F10
5 serine-type peptidase complex GO:1905286 9.32 F7 F3
6 extracellular space GO:0005615 9.28 SERPINC1 F9 F8 F7 F3 F2
7 plasma membrane GO:0005886 10.02 SERPINC1 F9 F8 F7 F3 F2

Biological processes related to Hemophilia B according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.88 F9 F7 F2 F11 F10
2 positive regulation of cell migration GO:0030335 9.73 F7 F3 F10 EGF
3 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F9 F8 F7 F2 F10
4 positive regulation of protein kinase B signaling GO:0051897 9.71 F7 F3 F10 EGF
5 blood coagulation GO:0007596 9.56 SERPINC1 F9 F8 F7 F3 F2
6 protein processing GO:0016485 9.54 F7 F3
7 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 F11
8 acute-phase response GO:0006953 9.52 F8 F2
9 positive regulation of blood coagulation GO:0030194 9.51 F7 F2
10 positive regulation of positive chemotaxis GO:0050927 9.49 F7 F3
11 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F7 F3
12 blood coagulation, intrinsic pathway GO:0007597 9.46 F9 F8 F2 F11
13 blood coagulation, extrinsic pathway GO:0007598 9.43 F7 F3 F10
14 hemostasis GO:0007599 9.23 SERPINC1 F9 F8 F7 F3 F2

Molecular functions related to Hemophilia B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.77 F9 F7 F2 F11 F10
2 calcium ion binding GO:0005509 9.65 F9 F7 F2 F10 EGF
3 peptidase activity GO:0008233 9.55 F9 F7 F2 F11 F10
4 heparin binding GO:0008201 9.5 SERPINC1 F2 F11
5 serine-type peptidase activity GO:0008236 9.35 F9 F7 F2 F11 F10
6 serine-type endopeptidase activity GO:0004252 9.1 F9 F7 F3 F2 F11 F10
7 protein binding GO:0005515 10.06 SERPINC1 F9 F8 F7 F3 F2

Sources for Hemophilia B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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