MCID: HMP004
MIFTS: 67

Hemophilia B

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemophilia B

MalaCards integrated aliases for Hemophilia B:

Name: Hemophilia B 53 12 23 49 55 71 28 13 51 41 14 69
Factor Ix Deficiency 53 12 23 49 55 71
Christmas Disease 53 72 23 49 55 71
Plasma Thromboplastin Component Deficiency 53 71
F9 Deficiency 53 71
Hemb 53 71
Deficiency, Functional Factor Ix 12
Congenital Factor Ix Deficiency 12
Recessive X-Linked Hemophilia B 71
Congenital Factor Ix Disorder 12
Hem B 49

Characteristics:

Orphanet epidemiological data:

55
hemophilia b
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
hemophilia b:
Inheritance x-linked recessive inheritance


GeneReviews:

23
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:

OMIM 53 306900
Disease Ontology 12 DOID:12259
ICD10 32 D67
ICD9CM 34 286.1
MeSH 41 D002836
NCIt 46 C26721
Orphanet 55 ORPHA98879
MESH via Orphanet 42 D002836
UMLS via Orphanet 70 C0008533
ICD10 via Orphanet 33 D67
UMLS 69 C0008533

Summaries for Hemophilia B

OMIM : 53 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 severe hemophilia b and hemophilia, and has symptoms including menometrorrhagia, spontaneous, recurrent epistaxis and hematuria. 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 Histamine and Menthol have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

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 : 49 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. Last updated: 2/8/2016

UniProtKB/Swiss-Prot : 71 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 : 72 Haemophilia B (or hemophilia B) is a blood clotting disorder caused by a mutation of the factor IX gene,... more...

GeneReviews: NBK1495

Related Diseases for Hemophilia B

Diseases in the Hemophilia family:

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

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

(show top 50) (show all 176)
# Related Disease Score Top Affiliating Genes
1 severe hemophilia b 33.9 F8 F9
2 hemophilia 31.9 F2 F3 F7 F8 F9
3 compartment syndrome 29.8 F2 F8
4 x-linked disease 29.7 F8 F9
5 central retinal vein occlusion 29.6 F2 SERPINC1
6 hemophilia a 29.6 F10 F3 F7 F8 F9
7 arteries, anomalies of 29.6 F2 F3 SERPINC1
8 retinal vein occlusion 29.5 F2 SERPINC1
9 von willebrand's disease 29.2 F11 F2 F3 F8 F9
10 disseminated intravascular coagulation 29.0 F2 F3 F9 SERPINC1
11 hemarthrosis 29.0 F10 F7 F8 F9
12 thrombosis 28.8 F10 F2 F3 F9 SERPINC1
13 thrombophilia due to thrombin defect 28.4 F10 F2 F3 F8 SERPINC1
14 factor vii deficiency 27.8 EGF F10 F2 F3 F7 F8
15 myocardial infarction 27.5 F10 F11 F2 F3 F7 F8
16 mild hemophilia b 12.2
17 moderately severe hemophilia b 12.2
18 symptomatic form of hemophilia b in female carriers 12.0
19 cerebral falx meningioma 10.4 F2 F3
20 cerebral sinovenous thrombosis 10.4 F2 F3
21 qualitative platelet defect 10.4 F2 F3
22 femoral neuropathy 10.4 F2 F3
23 hantavirus pulmonary syndrome 10.4 F2 F3
24 splenic disease 10.4 F2 F3
25 squamous cell papilloma 10.3 F2 F3
26 vitamin k deficiency hemorrhagic disease 10.3 F2 F8
27 multicentric castleman disease 10.3 F3 F8
28 factor xiii deficiency 10.3 F3 F8
29 analbuminemia 10.3 F2 F3
30 endocardium disease 10.3 F2 F3
31 carotid artery thrombosis 10.3 F10 F3
32 mild hemophilia a 10.3 F10 F8
33 mesenteric vascular occlusion 10.3 F2 F7
34 lemierre's syndrome 10.2 F11 F3
35 von willebrand disease, type 2 10.2 F7 F8
36 scott syndrome 10.2 F10 F2
37 malignant skin fibrous histiocytoma 10.2 F7 F9
38 intracranial sinus thrombosis 10.2 F3 SERPINC1
39 malignant dermis tumor 10.2 F7 F9
40 congenital disorder of glycosylation, type ia 10.2 F9 SERPINC1
41 spinal cord infarction 10.2 F2 SERPINC1
42 angina pectoris 10.2 F3 SERPINC1
43 sudden sensorineural hearing loss 10.2 F2 SERPINC1
44 blood protein disease 10.2 F2 SERPINC1
45 alpha-2-plasmin inhibitor deficiency 10.2 F2 SERPINC1
46 ischemic colitis 10.2 F2 SERPINC1
47 anterior spinal artery syndrome 10.2 F2 SERPINC1
48 dengue hemorrhagic fever 10.2 F2 F3
49 subendocardial myocardial infarction 10.2 F2 SERPINC1
50 sneddon syndrome 10.2 F2 SERPINC1

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



Diseases related to Hemophilia B

Symptoms & Phenotypes for Hemophilia B

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
platelet count normal
ptt prolonged
pt normal
platelet function normal
factor ix deficiency

Hematology:
factor ix deficiency


Clinical features from OMIM:

306900

Human phenotypes related to Hemophilia B:

55 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 menometrorrhagia 55 31 hallmark (90%) Very frequent (99-80%) HP:0400008
2 spontaneous, recurrent epistaxis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004406
3 hematuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000790
4 intracranial hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0002170
5 prolonged bleeding time 55 31 hallmark (90%) Very frequent (99-80%) HP:0003010
6 prolonged partial thromboplastin time 55 31 hallmark (90%) Very frequent (99-80%) HP:0003645
7 poor wound healing 55 31 hallmark (90%) Very frequent (99-80%) HP:0001058
8 prolonged bleeding after surgery 55 31 hallmark (90%) Very frequent (99-80%) HP:0004846
9 joint hemorrhage 55 31 hallmark (90%) Very frequent (99-80%) HP:0005261
10 intramuscular hematoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0012233
11 prolonged bleeding after dental extraction 55 31 hallmark (90%) Very frequent (99-80%) HP:0006298
12 reduced factor ix activity 55 31 hallmark (90%) Very frequent (99-80%) HP:0011858
13 cephalohematoma 55 31 hallmark (90%) Very frequent (99-80%) HP:0012541
14 delayed onset bleeding 55 31 hallmark (90%) Very frequent (99-80%) HP:0040232
15 osteoarthritis 31 HP:0002758
16 abnormal bleeding 31 HP:0001892
17 gastrointestinal hemorrhage 31 HP:0002239
18 persistent bleeding after trauma 31 HP:0001934
19 prolonged whole-blood clotting time 31 HP:0005542

MGI Mouse Phenotypes related to Hemophilia B:

43
# 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 F3 F7 F8 F9 SERPINC1 F10
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

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

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
2
Menthol Approved Phase 4,Early Phase 1 2216-51-5 16666
3
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
4
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
5
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
6
Thrombin Approved, Investigational Phase 4,Phase 3,Phase 1
7
Didanosine Approved Phase 4 69655-05-6 50599
8
Indinavir Approved Phase 4 150378-17-9 5362440
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
11
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
12
Zidovudine Approved Phase 4 30516-87-1 35370
13
Protein C Approved Phase 4,Phase 3
14
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 4 53-43-0 9860744
15 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Pharmaceutical Solutions Phase 4,Phase 3,Early Phase 1
17
Histamine Phosphate Phase 4 51-74-1 65513
18 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Adjuvants, Immunologic Phase 4
20 Hylan Phase 4
21 Protective Agents Phase 4
22 triamcinolone acetonide Phase 4
23 Triamcinolone diacetate Phase 4
24 Triamcinolone hexacetonide Phase 4
25 Viscosupplements Phase 4
26 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1
27 Hemostatics Phase 4,Phase 3,Phase 1
28 Anti-HIV Agents Phase 4,Phase 1
29 Anti-Infective Agents Phase 4,Phase 1
30 Antimetabolites Phase 4
31 Anti-Retroviral Agents Phase 4,Phase 1
32 Antiviral Agents Phase 4,Phase 1
33 HIV Protease Inhibitors Phase 4,Phase 3,Phase 1
34 Nucleic Acid Synthesis Inhibitors Phase 4
35
protease inhibitors Phase 4,Phase 3,Phase 1
36 Reverse Transcriptase Inhibitors Phase 4
37 DHEA (Dehydroepiandrosterone) Nutraceutical Phase 4
38
Bivalirudin Approved, Investigational Phase 3 128270-60-0 16129704
39
Menadione Approved, Nutraceutical Phase 3 58-27-5 4055
40
Phytonadione Approved, Investigational, Nutraceutical Phase 3 84-80-0 5284607 4812
41 Antibodies Phase 3
42 Immunoglobulin Fc Fragments Phase 3
43 Immunoglobulins Phase 3
44 Antifibrinolytic Agents Phase 3
45 Fibrinolytic Agents Phase 3,Phase 2,Phase 1
46 Micronutrients Phase 3
47 protein S Phase 3
48 Trace Elements Phase 3
49 Vitamins Phase 3
50 Antithrombin III Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 184)

# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
2 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
3 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
4 Prospective Registry of European Hemophilia B Patients Receiving BeneFIX® for Usual Use Completed NCT00167973 Phase 4
5 Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients Completed NCT00244114 Phase 4 blood draw
6 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
7 Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B Completed NCT00195221 Phase 4
8 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
9 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
10 Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
11 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
12 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4 activated recombinant human factor VII
13 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
14 Efficacy and Safety of Prothromplex Total (Prothrombin Complex Concentrate) in Oral Anticoagulant Reversal Completed NCT01159210 Phase 4
15 Dehydroepiandrosterone (DHEA)Supplementation Pre-IVF(In Vitro Fertilization) Cycles Completed NCT02866253 Phase 4 DHEA
16 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
17 Prothrombin Complex Concentrate Versus Fresh Frozen Plasma to Correct Coagulation Disorders in Adult Neurosurgical Patients Recruiting NCT02777424 Phase 4 Prothrombin Complex Concentrate
18 Pivotal Study (Pharmacokinetics, Efficacy, Safety) of BAX 326 (rFIX) in Hemophilia B Patients Completed NCT01174446 Phase 3
19 A Study to Compare the Pharmacokinetics and Safety of Replenine®-VF, Replenine® or Other Factor IX in Haemophilia B Completed NCT02263456 Phase 3
20 An Open-study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Subjects Undergoing Surgery Completed NCT02250573 Phase 3
21 A Study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Patients Under the Age of 6 Years Completed NCT02263469 Phase 3
22 Study Evaluating On-Demand Treatment With BeneFIX In Chinese Subjects Completed NCT00866606 Phase 3
23 Study To Compare On-Demand Treatment To A Prophylaxis Regimen Of BeneFIX In Subjects With Moderately Severe to Severe Hemophilia B Completed NCT01335061 Phase 3
24 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 Phase 3 Recombinant factor IX Product, IB1001
25 Study of Recombinant Coagulation Factor IX Fc Fusion Protein, BIIB029, in Previously Treated Pediatric Participants With Hemophilia B Completed NCT01440946 Phase 3 rFIXFc;FIX
26 BAX 326 Surgery Study in Hemophilia B Patients Completed NCT01507896 Phase 3
27 A Study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Patients Undergoing Major Surgery. Completed NCT02250560 Phase 3
28 Study Evaluating rFIX; BeneFIX in Severe Hemophilia B Completed NCT00037557 Phase 3 BeneFIX
29 Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia B Completed NCT01027364 Phase 3 Factor IX (rFIXFc);rFIX
30 A Safety, Efficacy and Pharmacokinetics Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Children With Hemophilia B Completed NCT01662531 Phase 3
31 Study Comparing On-Demand Treatment With Two Prophylaxis Regimens Of BeneFIX In Patients With Severe Hemophilia B Completed NCT00364182 Phase 3 Recombinant Coagulation Factor IX (BeneFIX);Recombinant Coagulation Factor IX (BeneFIX)
32 A Safety and Efficacy Study of a Recombinant Fusion Protein Linking Coagulation Factor IX With Albumin (rIX-FP) in Patients With Hemophilia B Completed NCT01496274 Phase 2, 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 Long-Term Safety and Efficacy of rFIXFc in the Prevention and Treatment of Bleeding Episodes in Previously Treated Participants With Hemophilia B Completed NCT01425723 Phase 3
35 Safety and Efficacy of NNC-0156-0000-0009 in Haemophilia B Patients Completed NCT01333111 Phase 3 nonacog beta pegol;nonacog beta pegol;nonacog beta pegol
36 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
37 Study Evaluating rFIX; BeneFIX® in Hemophilia B Completed NCT00093171 Phase 3 rFIX
38 Efficacy and Safety of NNC-0156-0000-0009 During Surgical Procedures in Subjects With Haemophilia B Completed NCT01386528 Phase 3 nonacog beta pegol
39 BAX 326 (rFIX) Continuation Study Completed NCT01286779 Phase 3
40 Safety and Efficacy of NNC-0156-0000-0009 After Long-Term Exposure in Patients With Haemophilia B: An Extension to Trials NN7999-3747 and NN7999-3773 Completed NCT01395810 Phase 3 nonacog beta pegol;nonacog beta pegol;nonacog beta pegol
41 Study Evaluating of Recombinant Human Factor IX (BeneFIX) and a New Formulation of BeneFIX (rFIX-R) in Moderate to Severe Hemophilia B Completed NCT00093210 Phase 3 rFIX;rFIX-R
42 BAX 326 Pediatric Study Completed NCT01488994 Phase 2, Phase 3
43 Recombinant Factor VIIa BI (rFVIIa BI) Treatment of Acute Bleeding Episodes Per an On-demand Regimen Completed NCT01757405 Phase 3
44 Efficacy and Safety Study of Prophylactic Versus On-Demand Treatment With Feiba NF in Subjects With Hemophilia A or B and a High Titer Inhibitor Completed NCT00851721 Phase 3
45 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
46 Cooperative Study of Factor VIII Inhibitors Completed NCT00000582 Phase 3 factor ix
47 Phase III Study of Coagulation FVIIa (Recombinant) in Congenital Hemophilia A or B Patients With Inhibitors Completed NCT02020369 Phase 3
48 Efficacy and Safety of NNC 0078-0000-0007 in Patients With Congenital Haemophilia and Inhibitors Completed NCT01392547 Phase 3 vatreptacog alfa (activated);eptacog alfa (activated)
49 LR769 in Congenital Hemophilia Patients With Inhibitors Undergoing Elective Surgery or Invasive Procedures Completed NCT02548143 Phase 3
50 An Open-label, Randomized, Multicenter Phase IIIb Study to Assess the Efficacy, Safety and Tolerance of BERIPLEX® P/N (Kcentra) Compared With Plasma for Rapid Reversal of Coagulopathy Induced by Vitamin K Antagonists in Subjects Requiring an Urgent Surgic Completed NCT00803101 Phase 3

Search NIH Clinical Center for Hemophilia B

Inferred drug relations via UMLS 69 / NDF-RT 47 :


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) 28

Anatomical Context for Hemophilia B

MalaCards organs/tissues related to Hemophilia B:

38
Liver, Brain, Testes, Bone, Skeletal Muscle, Whole Blood, Breast

Publications for Hemophilia B

Articles related to Hemophilia B:

(show top 50) (show all 584)
# Title Authors Year
1
Manual therapy in the treatment of patients with hemophilia B and inhibitor. ( 29357868 )
2018
2
Real-World Analysis of Dispensed IUs of Coagulation Factor IX and Resultant Expenditures in Hemophilia B Patients Receiving Standard Half-life Versus Extended Half-life Products and Those Switching from Standard Half-life to Extended Half-life Products. ( 29363389 )
2018
3
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. ( 29388273 )
2018
4
Trenonacog alfa for prophylaxis, on-demand and perioperative management of hemophilia B. ( 29172774 )
2018
5
Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population. ( 29274203 )
2017
6
Evaluating the psychosocial impact of hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319335 )
2017
7
Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant. ( 29211678 )
2017
8
Recent advances in hemophilia B therapy. ( 28243977 )
2017
9
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice. ( 28508290 )
2017
10
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
2017
11
Acute Compartment Syndrome after an Olecranon Fracture in a Patient with Mild Hemophilia B. ( 28819614 )
2017
12
Genetic Correction and Hepatic Differentiation of Hemophilia B-specific Human Induced Pluripotent Stem Cells. ( 28956740 )
2017
13
FIX It in One Go: Enhanced Factor IX Gene Therapy for Hemophilia B. ( 29245009 )
2017
14
Neonatal Gene Therapy for Hemophilia B by a Novel Adenovirus Vector Showing Reduced Leaky Expression of Viral Genes. ( 28828393 )
2017
15
Economic Burden of Illness among Persons with Hemophilia B from HUGS Vb: Examining the Association of Severity and Treatment Regimens with Costs and Annual Bleed Rates. ( 28964439 )
2017
16
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. ( 28752769 )
2017
17
Repeated Diffuse Alveolar Hemorrhage in a Patient with Hemophilia B. ( 28202865 )
2017
18
A new modeling approach allowing prediction and comparison of the long-term outcomes of treatments for hemophilia B. ( 28556675 )
2017
19
Gene therapy with adeno-associated virus vector 5-human factor IX in adults with hemophilia B. ( 29246900 )
2017
20
Management of US men, women, and children with hemophilia and methods and demographics of the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319338 )
2017
21
Impact of mild to severe hemophilia on engagement in recreational activities by US men, women, and children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319336 )
2017
22
In silico evaluation of limited blood sampling strategies for individualized recombinant factor IX prophylaxis in hemophilia B patients. ( 28688133 )
2017
23
Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity. ( 28406575 )
2017
24
Modulating immunogenicity of factor IX by fusion to an immunoglobulin Fc domain: a study using a hemophilia B mouse model. ( 28166609 )
2017
25
Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319337 )
2017
26
Oral Tolerance Induction in Hemophilia B Dogs Fed with Transplastomic Lettuce. ( 28153098 )
2017
27
Revascularization strategies and in-hospital management in acute coronary syndromes complicated by hemophilia A or hemophilia B. ( 28763308 )
2017
28
The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B. ( 28401797 )
2017
29
Hemophilic pseudotumor of the mandible in a patient with hemophilia B. ( 28852852 )
2017
30
Closing In on Treatment for Hemophilia B. ( 29211662 )
2017
31
First case report of hemophilia B Leyden in Japan. ( 28168417 )
2017
32
Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B. ( 29037559 )
2017
33
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B. ( 27865967 )
2017
34
Immune Modulatory Cell Therapy for Hemophilia B Based on CD20-Targeted Lentiviral Gene Transfer to Primary B Cells. ( 28480307 )
2017
35
Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B. ( 26969334 )
2016
36
Taylor JA, Kruse-Jarres R. A new era for hemophilia B treatment. Blood. 2016;127(14):1734-1736. ( 27737849 )
2016
37
[Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study]. ( 27529981 )
2016
38
Why should hemophilia B be milder than hemophilia A? ( 27132281 )
2016
39
Biodegradable hydrophilic carriers for the oral delivery of hematological factor IX for hemophilia B treatment. ( 27863665 )
2016
40
A milder clinical course for severe hemophilia B: a true or biased effect? ( 27252514 )
2016
41
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
42
A new era for hemophilia B treatment. ( 27056991 )
2016
43
Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial. ( 26755710 )
2016
44
Gene therapy for hemophilia B mice with scAAV8-LP1-hFIX. ( 27052253 )
2016
45
New developments in the management of moderate-to-severe hemophilia B. ( 27099538 )
2016
46
Nonacog beta pegol in previously treated children with hemophilia B: results from an international open-label phase 3 trial. ( 27174727 )
2016
47
The higher prevalence of missense mutations in hemophilia B compared to hemophilia A could be important in determining a milder clinical phenotype in patients with severe hemophilia B. ( 27694504 )
2016
48
Once-weekly prophylactic dosing of recombinant factor IX improves adherence in hemophilia B. ( 27942241 )
2016
49
A genetic analysis of 23 Chinese patients with hemophilia B. ( 27109384 )
2016
50
Transforming the treatment for hemophilia B patients: update on the clinical development of recombinant fusion protein linking recombinant coagulation factor IX with recombinant albumin (rIX-FP). ( 27288064 )
2016

Variations for Hemophilia B

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

71 (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
5 F9 p.Arg43Leu VAR_006525
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
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
40 F9 p.Gly139Ser VAR_006562
41 F9 p.Cys155Phe VAR_006563
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

ClinVar genetic disease variations for Hemophilia B:

6 (show top 50) (show all 103)
# Gene Variation Type Significance SNP ID Assembly Location
1 F9 F9, ARG-4TRP single nucleotide variant Pathogenic
2 F9 F9, ARG-1SER undetermined variant Pathogenic
3 F9 F9, GLU7ASP undetermined variant Pathogenic
4 F9 NM_000133.3(F9): c.169C> T (p.Gln57Ter) single nucleotide variant Pathogenic rs137852223 GRCh37 Chromosome X, 138619249: 138619249
5 F9 NM_000133.3(F9): c.52T> C (p.Cys18Arg) single nucleotide variant Pathogenic rs387906474 GRCh37 Chromosome X, 138612975: 138612975
6 F9 F9, ARG-4GLN single nucleotide variant Pathogenic
7 F9 NM_000133.3(F9): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs387906475 GRCh37 Chromosome X, 138613002: 138613002
8 F9 NM_000133.3(F9): c.218A> T (p.Glu73Val) single nucleotide variant Pathogenic rs137852226 GRCh37 Chromosome X, 138619298: 138619298
9 F9 NM_000133.3(F9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs137852227 GRCh37 Chromosome X, 138619303: 138619303
10 F9 NM_000133.3(F9): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs137852228 GRCh37 Chromosome X, 138619304: 138619304
11 F9 NM_000133.3(F9): c.237A> C (p.Glu79Asp) single nucleotide variant Pathogenic rs137852229 GRCh37 Chromosome X, 138619317: 138619317
12 F9 F9, IVS3DS, T-G single nucleotide variant Pathogenic
13 F9 NM_000133.3(F9): c.278A> G (p.Asp93Gly) single nucleotide variant Pathogenic rs137852230 GRCh37 Chromosome X, 138623235: 138623235
14 F9 NM_000133.3(F9): c.287A> C (p.Gln96Pro) single nucleotide variant Pathogenic rs137852231 GRCh37 Chromosome X, 138623244: 138623244
15 F9 NM_000133.3(F9): c.301C> G (p.Pro101Ala) single nucleotide variant Pathogenic rs137852232 GRCh37 Chromosome X, 138623258: 138623258
16 F9 NM_000133.3(F9): c.316G> A (p.Gly106Ser) single nucleotide variant Pathogenic rs137852233 GRCh37 Chromosome X, 138623273: 138623273
17 F9 NM_000133.3(F9): c.329A> G (p.Asp110Gly) single nucleotide variant Pathogenic rs137852234 GRCh37 Chromosome X, 138623286: 138623286
18 F9 NM_000133.3(F9): c.479G> C (p.Gly160Ala) single nucleotide variant Pathogenic rs137852235 GRCh37 Chromosome X, 138630609: 138630609
19 F9 NM_000133.3(F9): c.496A> T (p.Asn166Tyr) single nucleotide variant Pathogenic rs137852236 GRCh37 Chromosome X, 138630626: 138630626
20 F9 F9, TRP194TER undetermined variant Pathogenic
21 F9 NM_000133.3(F9): c.571C> T (p.Arg191Cys) single nucleotide variant Pathogenic rs137852237 GRCh37 Chromosome X, 138633271: 138633271
22 F9 NM_000133.3(F9): c.572G> A (p.Arg191His) single nucleotide variant Pathogenic rs137852238 GRCh37 Chromosome X, 138633272: 138633272
23 F9 F9, IVS7AS, G-A single nucleotide variant Pathogenic
24 F9 NM_000133.3(F9): c.880C> T (p.Arg294Ter) single nucleotide variant Pathogenic rs137852248 GRCh37 Chromosome X, 138643724: 138643724
25 F9 NM_000133.3(F9): c.655C> T (p.Gln219Ter) single nucleotide variant Pathogenic rs137852239 GRCh37 Chromosome X, 138633355: 138633355
26 F9 NM_000133.3(F9): c.676C> T (p.Arg226Trp) single nucleotide variant Pathogenic rs137852240 GRCh37 Chromosome X, 138633376: 138633376
27 F9 NM_000133.3(F9): c.677G> A (p.Arg226Gln) single nucleotide variant Pathogenic rs137852241 GRCh37 Chromosome X, 138633377: 138633377
28 F9 NM_000133.3(F9): c.541G> T (p.Val181Phe) single nucleotide variant Pathogenic rs387906477 GRCh37 Chromosome X, 138633241: 138633241
29 F9 NM_000133.3(F9): c.682G> T (p.Val228Phe) single nucleotide variant Pathogenic rs137852243 GRCh37 Chromosome X, 138633382: 138633382
30 F9 NM_000133.3(F9): c.682G> C (p.Val228Leu) single nucleotide variant Pathogenic rs137852243 GRCh37 Chromosome X, 138633382: 138633382
31 F9 NM_000133.3(F9): c.709C> T (p.Gln237Ter) single nucleotide variant Pathogenic rs137852244 GRCh37 Chromosome X, 138633409: 138633409
32 F9 NM_000133.3(F9): c.710A> T (p.Gln237Leu) single nucleotide variant Pathogenic rs137852245 GRCh37 Chromosome X, 138633410: 138633410
33 F9 F9, IVS6DS, G-T single nucleotide variant Pathogenic
34 F9 F9, TRP215TER undetermined variant Pathogenic
35 F9 NM_000133.3(F9): c.804T> G (p.Cys268Trp) single nucleotide variant Pathogenic rs137852246 GRCh37 Chromosome X, 138642980: 138642980
36 F9 NM_000133.3(F9): c.697G> A (p.Ala233Thr) single nucleotide variant Pathogenic rs387906478 GRCh37 Chromosome X, 138633397: 138633397
37 F9 NM_000133.3(F9): c.881G> A (p.Arg294Gln) single nucleotide variant Pathogenic rs137852249 GRCh37 Chromosome X, 138643725: 138643725
38 F9 NM_000133.3(F9): c.892C> T (p.Arg298Ter) single nucleotide variant Pathogenic rs137852250 GRCh37 Chromosome X, 138643736: 138643736
39 F9 NM_000133.3(F9): c.917A> G (p.Asn306Ser) single nucleotide variant Pathogenic rs137852251 GRCh37 Chromosome X, 138643761: 138643761
40 F9 NM_000133.3(F9): c.998C> T (p.Pro333Leu) single nucleotide variant Pathogenic rs137852252 GRCh37 Chromosome X, 138643842: 138643842
41 F9 NM_000133.3(F9): c.1009G> C (p.Ala337Pro) single nucleotide variant Pathogenic rs137852253 GRCh37 Chromosome X, 138643853: 138643853
42 F9 NM_000133.3(F9): c.1025C> T (p.Thr342Met) single nucleotide variant Pathogenic rs137852254 GRCh37 Chromosome X, 138643869: 138643869
43 F9 NM_000133.3(F9): c.1058T> C (p.Val353Ala) single nucleotide variant Pathogenic rs137852255 GRCh37 Chromosome X, 138643902: 138643902
44 F9 NM_000133.3(F9): c.1064G> T (p.Gly355Val) single nucleotide variant Pathogenic rs137852256 GRCh37 Chromosome X, 138643908: 138643908
45 F9 F9, TRP310TER undetermined variant Pathogenic
46 F9 NM_000133.3(F9): c.1069G> A (p.Gly357Arg) single nucleotide variant Pathogenic rs137852257 GRCh37 Chromosome X, 138643913: 138643913
47 F9 NM_000133.3(F9): c.1135C> T (p.Arg379Ter) single nucleotide variant Pathogenic rs137852258 GRCh37 Chromosome X, 138643979: 138643979
48 F9 NM_000133.3(F9): c.1136G> A (p.Arg379Gln) single nucleotide variant Pathogenic rs137852259 GRCh37 Chromosome X, 138643980: 138643980
49 F9 NM_000133.3(F9): c.1144T> C (p.Cys382Arg) single nucleotide variant Pathogenic rs137852260 GRCh37 Chromosome X, 138643988: 138643988
50 F9 NM_000133.3(F9): c.1150C> T (p.Arg384Ter) single nucleotide variant Pathogenic rs137852261 GRCh37 Chromosome X, 138643994: 138643994

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 EGF F10 F11 F2 F3 F7
2
Show member pathways
12.48 F10 F11 F2 F3 F7 F8
3
Show member pathways
11.7 F10 F2 F7 F9
4 11.7 F10 F11 F2 F3 F7 F8
5
Show member pathways
11.43 F10 F11 F2 F3 F7 F8
6 10.8 F10 F2 F7 F9

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 exosome GO:0070062 9.91 EGF F11 F2 F3 F9 SERPINC1
2 extracellular space GO:0005615 9.76 EGF F11 F2 F3 F7 F8
3 extracellular region GO:0005576 9.61 EGF F10 F11 F2 F3 F7
4 Golgi lumen GO:0005796 9.56 F10 F2 F7 F9
5 intrinsic component of external side of plasma membrane GO:0031233 9.4 F10 F3
6 serine-type peptidase complex GO:1905286 9.32 F3 F7
7 endoplasmic reticulum lumen GO:0005788 9.1 F10 F2 F7 F8 F9 SERPINC1
8 plasma membrane GO:0005886 10.02 EGF F10 F11 F2 F3 F7

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 F10 F11 F2 F7 F9
2 positive regulation of cell migration GO:0030335 9.8 EGF F10 F3 F7
3 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F7 F8 F9
4 positive regulation of protein kinase B signaling GO:0051897 9.76 EGF F10 F3 F7
5 signal peptide processing GO:0006465 9.67 F10 F2 F7 F9
6 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
7 regulation of blood coagulation GO:0030193 9.61 F11 F2 SERPINC1
8 blood coagulation, extrinsic pathway GO:0007598 9.56 F10 F3 F7 F9
9 blood coagulation GO:0007596 9.56 F10 F11 F2 F3 F7 F8
10 acute-phase response GO:0006953 9.55 F2 F8
11 blood coagulation, intrinsic pathway GO:0007597 9.55 F10 F11 F2 F8 F9
12 positive regulation of blood coagulation GO:0030194 9.54 F2 F7
13 positive regulation of positive chemotaxis GO:0050927 9.52 F3 F7
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.48 F3 F7
15 hemostasis GO:0007599 9.23 F10 F11 F2 F3 F7 F8

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 F10 F11 F2 F7 F9
2 calcium ion binding GO:0005509 9.65 EGF F10 F2 F7 F9
3 peptidase activity GO:0008233 9.55 F10 F11 F2 F7 F9
4 heparin binding GO:0008201 9.5 F11 F2 SERPINC1
5 serine-type peptidase activity GO:0008236 9.35 F10 F11 F2 F7 F9
6 serine-type endopeptidase activity GO:0004252 9.1 F10 F11 F2 F3 F7 F9

Sources for Hemophilia B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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