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HEMB
MCID: HMP004
MIFTS: 68

Hemophilia B (HEMB)

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hemophilia B

About this section

MalaCards integrated aliases for Hemophilia B:

Name: Hemophilia B 56 12 24 52 58 73 29 13 54 6 43 15 39 71
Factor Ix Deficiency 56 12 24 52 58 73
Christmas Disease 56 74 24 52 58 73
Plasma Thromboplastin Component Deficiency 56 73
F9 Deficiency 56 73
Hemb 56 73
Symptomatic Form of Hemophilia B in Female Carriers 58
Moderately Severe Factor Ix Deficiency 58
Deficiency, Functional Factor Ix 12
Congenital Factor Ix Deficiency 12
Recessive X-Linked Hemophilia B 73
Moderately Severe Hemophilia B 58
Congenital Factor Ix Disorder 12
Severe Factor Ix Deficiency 58
Mild Factor Ix Deficiency 58
Severe Hemophilia B 58
Mild Hemophilia B 58
Hem B 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
x-linked recessive

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


HPO:

31
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Neuronal diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:12259
OMIM 56 306900
ICD9CM 34 286.1
MeSH 43 D002836
NCIt 49 C26721
SNOMED-CT 67 41788008
ICD10 32 D67
MESH via Orphanet 44 D002836
ICD10 via Orphanet 33 D67
UMLS via Orphanet 72 C0008533
UMLS 71 C0008533
Sources

Summaries for Hemophilia B

About this section
OMIM : 56 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 hemophilia a. 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 Hyaluronic acid 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 : 52 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 : 73 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 : 74 Haemophilia B is a blood clotting disorder causing easy bruising and bleeding due to an inherited... more...

GeneReviews: NBK1495
Sources

Related Diseases for Hemophilia B

About this section

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 330)
# Related Disease Score Top Affiliating Genes
1 hemophilia 34.0 F9 F8 F7
2 hemophilia a 31.4 VWF F9 F8 F7 F3
3 endocarditis 31.0 SERPINC1 PF4 F2
4 hemopericardium 30.7 F3 F2
5 thrombasthenia 30.6 F3 F2 EGF
6 retinal vein occlusion 30.5 SERPINC1 F3 F2
7 hermansky-pudlak syndrome 6 30.3 HPS6 F9
8 intermediate coronary syndrome 30.3 VWF SERPINC1 PF4 F3
9 exanthem 30.2 ICOSLG F3 F2
10 lipoprotein quantitative trait locus 30.2 VWF PF4 F3 F2
11 compartment syndrome 30.1 SERPINC1 F8 F7 F3 F2
12 hemarthrosis 30.1 VWF F9 F8 F7 F3 F2
13 thrombophilia due to thrombin defect 30.1 SERPINC1 PF4 F8 F3 F2 F10
14 acquired hemophilia 30.1 F9 F8 F3 F11 F10
15 central retinal vein occlusion 30.0 VWF SERPINC1 F8 F3 F2
16 factor vii deficiency 30.0 SERPINC1 HNF4A F9 F8 F7 F3
17 von willebrand's disease 30.0 VWF PF4 F9 F8 F7 F3
18 factor xii deficiency 29.9 VWF SERPINC1 F9 F3 F11
19 atrial fibrillation 29.7 VWF SERPINC1 PF4 F3 F2 F10
20 prothrombin deficiency 29.7 SERPINC1 F9 F8 F7 F3 F2
21 factor viii deficiency 29.6 VWF ICOSLG F9 F8 F7 F3
22 factor xiii deficiency 29.5 VWF SERPINC1 F9 F8 F7 F3
23 pulmonary embolism 29.4 VWF SERPINC1 PF4 F9 F8 F3
24 thrombocytopenia 29.3 VWF SERPINC1 PF4 FGA F9 F3
25 malaria 29.2 VWF SERPINC1 PF4 ICOSLG F3 F2
26 hemorrhagic disease 29.2 VWF SERPINC1 PF4 F9 F8 F7
27 factor xi deficiency 29.0 VWF SERPINC1 F9 F8 F7 F3
28 disseminated intravascular coagulation 28.9 VWF SERPINC1 FGA F9 F7 F3
29 thrombophilia 28.7 VWF SERPINC1 PF4 FGA F9 F8
30 thrombosis 28.7 VWF SERPINC1 PF4 FGA F9 F8
31 myocardial infarction 28.7 VWF SERPINC1 PF4 FGA F9 F8
32 achenbach syndrome 10.6 F3 F2
33 renal pelvis squamous cell carcinoma 10.6 F3 F2
34 spinal cord infarction 10.6 SERPINC1 F2
35 emphysematous cholecystitis 10.6 F3 F2
36 femoral neuropathy 10.6 F3 F2
37 sudden sensorineural hearing loss 10.6 SERPINC1 F2
38 hemopneumothorax 10.6 F3 F2
39 gastric hemangioma 10.6 F3 F2
40 ankylosing spondylitis 1 10.6 F3 F2
41 epidural abscess 10.5 F3 F2
42 alkhurma hemorrhagic fever 10.5 F8 F3
43 livedoid vasculitis 10.5 SERPINC1 F2
44 blue toe syndrome 10.5 SERPINC1 F3 F2
45 lateral sinus thrombosis 10.5 SERPINC1 F3 F2
46 thoracic outlet syndrome 10.5 SERPINC1 F2
47 giant hemangioma 10.5 SERPINC1 F3 F2
48 waterhouse-friderichsen syndrome 10.5 SERPINC1 F3 F2
49 cavernous sinus thrombosis 10.5 SERPINC1 F3 F2
50 lemierre's syndrome 10.5 SERPINC1 F3 F2

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



Diseases related to Hemophilia B
Sources

Symptoms & Phenotypes for Hemophilia B

About this section

Human phenotypes related to Hemophilia B:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000790
2 intracranial hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002170
3 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
4 menometrorrhagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0400008
5 poor wound healing 58 31 hallmark (90%) Very frequent (99-80%) HP:0001058
6 prolonged partial thromboplastin time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003645
7 intramuscular hematoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0012233
8 joint hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0005261
9 prolonged bleeding after dental extraction 58 31 hallmark (90%) Very frequent (99-80%) HP:0006298
10 prolonged bleeding after surgery 58 31 hallmark (90%) Very frequent (99-80%) HP:0004846
11 spontaneous, recurrent epistaxis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004406
12 reduced factor ix activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0011858
13 cephalohematoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0012541
14 delayed onset bleeding 58 31 hallmark (90%) Very frequent (99-80%) HP:0040232
15 gastrointestinal hemorrhage 31 HP:0002239
16 osteoarthritis 31 HP:0002758
17 abnormal bleeding 31 HP:0001892
18 persistent bleeding after trauma 31 HP:0001934
19 prolonged whole-blood clotting time 31 HP:0005542

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
platelet count normal
ptt prolonged
pt normal
platelet function normal
factor ix deficiency

Hematology:
factor ix deficiency

Clinical features from OMIM:

306900

GenomeRNAi Phenotypes related to Hemophilia B according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.47 CKM
2 Decreased viability GR00249-S 9.47 F10 F7 PF4
3 Decreased viability GR00386-A-1 9.47 F8 FGA HNF4A ICOSLG ONECUT2 PF4
4 Decreased viability GR00402-S-2 9.47 F11 FGA ONECUT2 PF4

MGI Mouse Phenotypes related to Hemophilia B:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.19 CKM CPB2 DBP F10 F11 F2
2 cardiovascular system MP:0005385 10.17 CKM DBP F10 F11 F2 F3
3 immune system MP:0005387 9.93 CPB2 EGF F11 F2 F3 F8
4 liver/biliary system MP:0005370 9.56 DBP F11 F9 FGA HNF4A ONECUT1
5 mortality/aging MP:0010768 9.47 CPB2 DBP F10 F11 F2 F3
Sources

Drugs & Therapeutics for Hemophilia B

About this section

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

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
2
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
3
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
4
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
5
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
6
Didanosine Approved Phase 4 69655-05-6 50599
7
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
8
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
9
Indinavir Approved Phase 4 150378-17-9 5362440
10
Zidovudine Approved Phase 4 30516-87-1 35370
11 Coagulants Phase 4
12
protease inhibitors Phase 4
13 HIV Protease Inhibitors Phase 4
14 Hylan Phase 4
15 Triamcinolone diacetate Phase 4
16 triamcinolone acetonide Phase 4
17 Triamcinolone hexacetonide Phase 4
18 Reverse Transcriptase Inhibitors Phase 4
19 Anti-Infective Agents Phase 4
20 Anti-Retroviral Agents Phase 4
21 Antiviral Agents Phase 4
22 Antimetabolites Phase 4
23 Anti-HIV Agents Phase 4
24 Hemostatics Phase 3
25 Thromboplastin Phase 3
26 Lipoprotein-associated coagulation inhibitor Phase 3
27 Immunoglobulins Phase 3
28 Antibodies Phase 3
29
Icodextrin Approved, Investigational Phase 2 337376-15-5
30 Pharmaceutical Solutions Phase 1, Phase 2
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
Dabigatran Investigational Phase 1 211914-51-1
35 Antithrombins Phase 1
36 Antithrombin III Phase 1
37 Serine Proteinase Inhibitors Phase 1
38 Factor Xa Inhibitors Phase 1
39 Anticoagulants Phase 1
40 Antidotes Phase 1
41
Serine Investigational, Nutraceutical Phase 1 56-45-1 5951
42
Histamine Approved, Investigational 51-45-6 774
43
Thrombin Approved, Investigational
44
Protein C Approved
45
Sodium citrate Approved, Investigational 68-04-2
46
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
47
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
48 Soy Bean
49
Histamine Phosphate 51-74-1 65513
50 Trace Elements

Interventional clinical trials:

(show top 50) (show all 206)
# 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 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
5 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
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 SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH NONACOG ALFA PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATELY-SEVERE TO SEVERE HEMOPHILIA B FOR A DURATION OF 8 WEEKS. Recruiting NCT04286412 Phase 4
13 A Post Marketing Surveillance (PMS) Study of RIXUBIS in India Active, not recruiting NCT03565237 Phase 4
14 The Effectiveness of Recombinant Fusion Protein Linking Coagulation Factor IX With Recombinant Albumin (rIX-FP) in Severe Hemophilia B Patients Switching From Previous Factor IX Treatment Not yet recruiting NCT04108260 Phase 4 Albutrepenonacog Alfa 1 UNT [IDELVION]
15 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
16 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
17 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
18 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
19 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
20 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
21 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 Completed NCT02234310 Phase 3
22 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
23 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)
24 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
25 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
26 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
27 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
28 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
29 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
30 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
31 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
32 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
33 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
34 An Open-study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Subjects Undergoing Surgery. Completed NCT02250573 Phase 3
35 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
36 An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients. Completed NCT02231944 Phase 3
37 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
38 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
39 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
40 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)
41 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
42 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
43 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
44 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
45 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
46 Evaluation of a Recombinant Factor IX Product, APVO101, in Previously-Treated Pediatric Patients With Hemophilia B Recruiting NCT03855280 Phase 3 APVO101
47 PHASE 3, OPEN LABEL, SINGLE ARM STUDY TO EVALUATE EFFICACY AND SAFETY OF FIX GENE TRANSFER WITH PF-06838435 (RAAV-SPARK100-HFIX-PADUA) IN ADULT MALE PARTICIPANTS WITH MODERATELY SEVERE TO SEVERE HEMOPHILIA B (FIX:C <=2%) (BENEGENE-2) Recruiting NCT03861273 Phase 3
48 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
49 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
50 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

Search NIH Clinical Center for Hemophilia B

Inferred drug relations via UMLS 71 / NDF-RT 50 :


nonacog alfa
recombinant FVIIa

Cochrane evidence based reviews: hemophilia b

Sources

Genetic Tests for Hemophilia B

About this section

Genetic tests related to Hemophilia B:

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

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MalaCards organs/tissues related to Hemophilia B:

40
Liver, Brain, Testes, T Cells, Bone, Skeletal Muscle, Whole Blood
Sources

Publications for Hemophilia B

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Articles related to Hemophilia B:

(show top 50) (show all 1941)
# Title Authors PMID Year
1
Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. 56 6 61 54
15266608 2004
2
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). 56 54 6 61
1986380 1991
3
Genotype analysis identifies the cause of the "royal disease". 6 56 61
19815722 2009
4
Somatic mosaicism and compound heterozygosity in female hemophilia B. 61 6 56
10942410 2000
5
Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome. 56 6 61
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. 61 6 56
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. 56 6 61
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. 56 6 61
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. 61 56 6
2198809 1990
10
A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel). 6 56 61
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. 61 6 56
3411192 1988
12
The putative factor IX gene promoter in hemophilia B Leyden. 61 6 56
3416069 1988
13
A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred. 61 6 56
2841226 1988
14
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. 56 6 61
3029178 1987
15
Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene. 61 6 56
2992643 1985
16
Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty. 6 56 61
7062952 1982
17
The abnormal factor IX of hemophilia B+ variants. 56 6 61
734633 1978
18
Hemophilia B: characterization of genetic variants and detection of carriers. 56 6 61
884315 1977
19
Haemophilia Bm: a new type of factor-IX deficiency. 61 56 6
4163943 1967
20
Six characters in search of an author: the history of the nomenclature of coagulation factors. 56 6
12780784 2003
21
Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX. 56 6
8318985 1993
22
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. 6 56
1598234 1992
23
Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. 6 56
1615485 1992
24
A less severe form of Haemophilia B Leyden. 6 56
2388855 1990
25
Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD). 6 56
2370049 1990
26
Molecular pathology of haemophilia B. 56 6
2743975 1989
27
Unusual case of haemophilia B. 6 56
2565449 1989
28
Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies. 56 6
2848757 1988
29
Gene deletion in an Italian haemophilia B subject. 56 6
4045960 1985
30
Gene deletions in patients with haemophilia B and anti-factor IX antibodies. 6 56
6843667 1983
31
Another genetic variant of haemophilia B: haemophilia B Leyden. 6 56
5450691 1970
32
Christmas disease, color-blindness and blood group Xga. 6 56
5298508 1967
33
Christmas disease: a condition previously mistaken for haemophilia. 56 6
12997790 1952
34
Bleeding in carriers of hemophilia. 56 24
16551972 2006
35
AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. 54 61 56
12515715 2003
36
Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B. 56 61 54
11380446 2001
37
Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age. 56 24
10647899 1999
38
Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector. 56 54 61
9883840 1999
39
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 6 54 61
1346975 1992
40
An A to T transversion at position -5 of the factor IX promoter results in hemophilia B. 61 54 6
1733855 1992
41
Expression of human factor IX in rat capillary endothelial cells: toward somatic gene therapy for hemophilia B. 56 54 61
1896457 1991
42
Expression of human factor IX in rabbit hepatocytes by retrovirus-mediated gene transfer: potential for gene therapy of hemophilia B. 61 56 54
2385589 1990
43
Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant. 61 56
29211678 2017
44
Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. 61 56
22149959 2011
45
Inhibitors in factor IX deficiency a report of the ISTH-SSC international FIX inhibitor registry (1997-2006). 24 61 54
19515028 2009
46
An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden. 61 56
19416882 2009
47
Clinical manifestations and management of labor and delivery in women with factor IX deficiency. 61 54 24
15357775 2004
48
A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs. 56 61
14722728 2003
49
Hemophilia B 61 6
20301668 2000
50
The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation. 61 56
10874302 2000
Sources

Variations for Hemophilia B

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ClinVar genetic disease variations for Hemophilia B:

6 (show top 50) (show all 220) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F8 NM_000132.3(F8):c.6089G>A (p.Ser2030Asn)SNV Pathogenic 439683 rs369414658 X:154130352-154130352 X:154902077-154902077
2 F9 NC_000023.11:g.(?_139530759)_(139562076_?)deldeletion Pathogenic 537740 X:138612918-138644235 X:139530759-139562076
3 F9 NM_000133.3(F9):c.253-1G>CSNV Pathogenic 574429 rs1434866164 X:138619520-138619520 X:139537361-139537361
4 F8 NM_000132.3(F8):c.5954G>A (p.Arg1985Gln)SNV Pathogenic 618098 rs1490417405 X:154132225-154132225 X:154903950-154903950
5 F8 NM_000132.3(F8):c.6686T>C (p.Leu2229Pro)SNV Pathogenic 626935 X:154090030-154090030 X:154861755-154861755
6 F8 NM_000132.3(F8):c.6547A>G (p.Met2183Val)SNV Pathogenic 626933 X:154091385-154091385 X:154863110-154863110
7 F8 NM_000132.3(F8):c.6434T>G (p.Phe2145Cys)SNV Pathogenic 627109 X:154091498-154091498 X:154863223-154863223
8 F8 NM_000132.3(F8):c.6104T>C (p.Val2035Ala)SNV Pathogenic 627347 X:154130337-154130337 X:154902062-154902062
9 F8 NM_000132.3(F8):c.6082G>A (p.Gly2028Arg)SNV Pathogenic 627346 X:154130359-154130359 X:154902084-154902084
10 F8 NM_000132.3(F8):c.5918A>T (p.His1973Leu)SNV Pathogenic 627340 X:154132261-154132261 X:154903986-154903986
11 F8 NM_000132.3(F8):c.2043G>C (p.Met681Ile)SNV Pathogenic 627033 X:154176043-154176043 X:154947768-154947768
12 F8 NM_000132.3(F8):c.1804C>G (p.Arg602Gly)SNV Pathogenic 627259 X:154182266-154182266 X:154953991-154953991
13 F8 NM_000132.3(F8):c.1621A>T (p.Thr541Ser)SNV Pathogenic 627254 X:154185363-154185363 X:154957088-154957088
14 F8 NM_000132.3(F8):c.1364T>G (p.Phe455Cys)SNV Pathogenic 626992 X:154194324-154194324 X:154966049-154966049
15 F9 NC_000023.11:g.(?_139530701)_(139563439_?)deldeletion Pathogenic 658437 X:138612860-138645598 X:139530701-139563439
16 F9 NC_000023.10:g.(?_138612860)_(139587225_?)deldeletion Pathogenic 665638 X:138612860-139587225
17 F9 NM_000133.3(F9):c.-35G>ASNV Pathogenic 641767 X:138612889-138612889 X:139530730-139530730
18 F8 NM_000132.3(F8):c.1020A>C (p.Glu340Asp)SNV Pathogenic 627191 X:154194952-154194952 X:154966677-154966677
19 F8 NM_000132.3(F8):c.979C>G (p.Leu327Val)SNV Pathogenic 627165 X:154197636-154197636 X:154969361-154969361
20 F9 NM_000133.3(F9):c.88G>A (p.Val30Ile)SNV Pathogenic 651569 X:138613011-138613011 X:139530852-139530852
21 F9 NM_000133.4(F9):c.1024A>G (p.Thr342Ala)SNV Pathogenic 812974 X:138643868-138643868 X:139561709-139561709
22 F9 NC_000023.11:g.(?_139541049)_(139563439_?)deldeletion Pathogenic 830844 X:138623208-138645598
23 F9 NM_000133.4(F9):c.545_546del (p.Ser182fs)deletion Pathogenic 862249 X:138633244-138633245 X:139551085-139551086
24 F8 NM_000132.3(F8):c.541G>A (p.Val181Met)SNV Pathogenic 10177 rs137852394 X:154221271-154221271 X:154992996-154992996
25 F8 NM_000132.3(F8):c.935T>C (p.Phe312Ser)SNV Pathogenic 10196 rs137852405 X:154197680-154197680 X:154969405-154969405
26 F8 NM_000132.3(F8):c.1492G>A (p.Gly498Arg)SNV Pathogenic 10217 rs137852414 X:154189395-154189395 X:154961120-154961120
27 F8 NM_000132.3(F8):c.1636C>T (p.Arg546Trp)SNV Pathogenic 10222 rs137852416 X:154185348-154185348 X:154957073-154957073
28 F8 NM_000132.3(F8):c.1804C>T (p.Arg602Ter)SNV Pathogenic 10232 rs137852424 X:154182266-154182266 X:154953991-154953991
29 F8 NM_000132.3(F8):c.1834C>T (p.Arg612Cys)SNV Pathogenic 10236 rs137852428 X:154182236-154182236 X:154953961-154953961
30 F8 NM_000132.3(F8):c.6683G>A (p.Arg2228Gln)SNV Pathogenic 10098 rs137852358 X:154090033-154090033 X:154861758-154861758
31 F8 NM_000132.3(F8):c.1172G>A (p.Arg391His)SNV Pathogenic 10111 rs28935499 X:154194800-154194800 X:154966525-154966525
32 F8 NM_000132.3(F8):c.2167G>A (p.Ala723Thr)SNV Pathogenic 10246 rs137852436 X:154159898-154159898 X:154931623-154931623
33 F8 NM_000132.3(F8):c.6744G>T (p.Trp2248Cys)SNV Pathogenic 10327 rs137852469 X:154088863-154088863 X:154860588-154860588
34 F8 NM_000132.3(F8):c.6956C>T (p.Pro2319Leu)SNV Pathogenic 10332 rs137852472 X:154065972-154065972 X:154837697-154837697
35 F9 F9, ARG-4TRPSNV Pathogenic 10564
36 F9 F9, ARG-1SERundetermined variant Pathogenic 10565
37 F9 F9, GLU7ASPundetermined variant Pathogenic 10566
38 F9 NM_000133.3(F9):c.169C>T (p.Gln57Ter)SNV Pathogenic 10567 rs137852223 X:138619249-138619249 X:139537090-139537090
39 F9 NM_000133.3(F9):c.52T>C (p.Cys18Arg)SNV Pathogenic 10568 rs387906474 X:138612975-138612975 X:139530816-139530816
40 F9 F9, ARG-4GLNSNV Pathogenic 10569
41 F9 NM_000133.3(F9):c.79G>A (p.Glu27Lys)SNV Pathogenic 10570 rs387906475 X:138613002-138613002 X:139530843-139530843
42 F9 NM_000133.3(F9):c.218A>T (p.Glu73Val)SNV Pathogenic 10571 rs137852226 X:138619298-138619298 X:139537139-139537139
43 F9 NM_000133.3(F9):c.223C>T (p.Arg75Ter)SNV Pathogenic 10572 rs137852227 X:138619303-138619303 X:139537144-139537144
44 F9 NM_000133.3(F9):c.237A>C (p.Glu79Asp)SNV Pathogenic 10574 rs137852229 X:138619317-138619317 X:139537158-139537158
45 F9 F9, IVS3DS, T-GSNV Pathogenic 10575
46 F9 NM_001313913.1(F9):c.277+3690A>GSNV Pathogenic 10576 rs137852230 X:138623235-138623235 X:139541076-139541076
47 F9 NM_001313913.1(F9):c.277+3699A>CSNV Pathogenic 10577 rs137852231 X:138623244-138623244 X:139541085-139541085
48 F9 NM_001313913.1(F9):c.277+3713C>GSNV Pathogenic 10578 rs137852232 X:138623258-138623258 X:139541099-139541099
49 F9 NM_000133.3(F9):c.316G>A (p.Gly106Ser)SNV Pathogenic 10579 rs137852233 X:138623273-138623273 X:139541114-139541114
50 F9 NM_001313913.1(F9):c.277+3741A>GSNV Pathogenic 10580 rs137852234 X:138623286-138623286 X:139541127-139541127

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

73 (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 Chromosome Start End Type Gene Symbol CNVD Disease
1 259590 X 138440560 138473283 Insertion F9 Hemophilia B
Sources

Expression for Hemophilia B

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Search GEO for disease gene expression data for Hemophilia B.
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Pathways for Hemophilia B

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

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.11 VWF SERPINC1 PF4 FGA F9 F8
2
Collagen chain trimerization 65
Show member pathways
 12.58 SERPINC1 FGA F9 F8 F7 F3
3
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.9 VWF SERPINC1 PF4 FGA F9 F8
4
Gamma carboxylation, hypusine formation and arylsulfatase activation 65
Show member pathways
 11.7 F9 F7 F2 F10
5
Integrin alphaIIb beta3 signaling 65
Show member pathways
 11.6 VWF FGA F2
6
Complement and coagulation cascades 36 1
11.52 VWF SERPINC1 FGA F9 F8 F7
7
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.29 VWF FGA F2
8
Warfarin Pathway, Pharmacodynamics 60
10.8 F9 F7 F2 F10
Sources

GO Terms for Hemophilia B

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.13 VWF SERPINC1 PF4 FGA F9 F8
2 extracellular exosome GO:0070062 10.11 VWF SERPINC1 ICOSLG FGA F9 F2
3 endoplasmic reticulum lumen GO:0005788 9.8 SERPINC1 FGA F9 F8 F7 F2
4 Golgi lumen GO:0005796 9.71 F9 F7 F2 F10
5 collagen-containing extracellular matrix GO:0062023 9.56 VWF SERPINC1 PF4 FGA F9 F7
6 platelet alpha granule lumen GO:0031093 9.55 VWF PF4 FGA F8 EGF
7 platelet alpha granule GO:0031091 9.48 VWF FGA
8 extracellular space GO:0005615 9.44 SERPINC1 PF4 FGA F9 F8 F7
9 intrinsic component of external side of plasma membrane GO:0031233 9.43 F3 F10
10 serine-type peptidase complex GO:1905286 9.37 F7 F3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.99 F9 F7 F2 F11 F10 CPB2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.85 F9 F8 F7 F2 F10
3 positive regulation of cell migration GO:0030335 9.85 ONECUT2 ONECUT1 F7 F3 F10 EGF
4 positive regulation of protein kinase B signaling GO:0051897 9.83 F7 F3 F10 EGF
5 platelet degranulation GO:0002576 9.8 VWF PF4 FGA F8 EGF
6 liver development GO:0001889 9.75 ONECUT2 ONECUT1 DBP
7 platelet activation GO:0030168 9.72 VWF PF4 FGA F8 F2
8 hemostasis GO:0007599 9.7 VWF SERPINC1 FGA F9 F8 F7
9 fibrinolysis GO:0042730 9.65 FGA F2 CPB2
10 regulation of blood coagulation GO:0030193 9.61 SERPINC1 F2 F11
11 positive regulation of blood coagulation GO:0030194 9.59 F7 F2
12 regulation of cell-matrix adhesion GO:0001952 9.58 ONECUT2 ONECUT1
13 positive regulation of positive chemotaxis GO:0050927 9.57 F7 F3
14 epithelial cell development GO:0002064 9.56 ONECUT2 ONECUT1
15 plasminogen activation GO:0031639 9.55 FGA F11
16 blood coagulation, intrinsic pathway GO:0007597 9.55 VWF F9 F8 F2 F11
17 negative regulation of fibrinolysis GO:0051918 9.54 F2 CPB2
18 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F7 F3
19 blood coagulation GO:0007596 9.44 VWF SERPINC1 HPS6 HNF4A FGA F9
20 blood coagulation, extrinsic pathway GO:0007598 9.43 F7 F3 F10

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.72 ICOSLG HNF4A FGA F7 F2
2 peptidase activity GO:0008233 9.63 F9 F7 F2 F11 F10 CPB2
3 heparin binding GO:0008201 9.56 SERPINC1 PF4 F2 F11
4 protease binding GO:0002020 9.54 VWF SERPINC1 F3
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
Sources

Sources for Hemophilia B

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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