HEMB
MCID: HMP004
MIFTS: 62

Hemophilia B (HEMB) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemophilia B

Aliases & Descriptions for Hemophilia B:

Name: Hemophilia B 54 12 23 50 24 56 66 29 13 52 42 14 69
Factor Ix Deficiency 12 23 50 24 56 66
Christmas Disease 23 50 24 56 66
Plasma Thromboplastin Component Deficiency 66
Deficiency, Functional Factor Ix 12
Congenital Factor Ix Deficiency 12
Recessive X-Linked Hemophilia B 66
Congenital Factor Ix Disorder 12
F9 Deficiency 66
Hem B 50
Hemb 66

Characteristics:

Orphanet epidemiological data:

56
hemophilia b
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

GeneReviews:

23
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 54 306900
Disease Ontology 12 DOID:12259
ICD10 33 D67
ICD9CM 35 286.1
MeSH 42 D002836
NCIt 47 C26721
Orphanet 56 ORPHA98879
MESH via Orphanet 43 D002836
ICD10 via Orphanet 34 D67
UMLS via Orphanet 70 C0008533
UMLS 69 C0008533

Summaries for Hemophilia B

OMIM : 54 Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (306700), which results... (306900) more...

MalaCards based summary : Hemophilia B, also known as factor ix deficiency, is related to artery disease and hemarthrosis, and has symptoms including osteoarthritis, abnormal bleeding and gastrointestinal hemorrhage. 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 brain, liver and whole blood, 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 : 50 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 : 66 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.

GeneReviews: NBK1495

Related Diseases for Hemophilia B

Diseases in the Hemophilia family:

Hemophilia B Hemophilia a
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 168)
id Related Disease Score Top Affiliating Genes
1 artery disease 29.8 F2 F3
2 hemarthrosis 29.7 F2 F3
3 myocardial infarction 28.5 F10 F11 F2 F3 F7 F8
4 severe hemophilia b 12.1
5 mild hemophilia b 12.0
6 moderately severe hemophilia b 12.0
7 symptomatic form of hemophilia b in female carriers 11.9
8 hemophilia 11.6
9 primary peritoneal carcinoma 10.3 F8 F9
10 noma 10.2 F3 F9
11 hendra virus infection 10.2 F2 F3
12 prostatic hypertrophy 10.2 F2 F3
13 sporotrichosis 10.2 F2 F3
14 chronic inflammatory demyelinating polyneuritis 10.2 F2 F3
15 inherited blood coagulation disease 10.2 F3 F8
16 brain stem cancer 10.2 F2 F3
17 social phobia 10.2 F2 F8
18 high anorectal malformation 10.2 F10 F8
19 subclavian artery aneurysm 10.2 F10 F3
20 hemophilia a 10.2
21 multiple mitochondrial dysfunctions syndrome 10.2 F3 F8
22 mobitz type ii atrioventricular block 10.2 F2 F3
23 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.2 F2 F3
24 porphyria 10.2 F2 F7
25 sertoli cell tumor 10.2 F3 SERPINC1
26 arcus senilis 10.1 F11 F3
27 xfe progeroid syndrome 10.1 F9 SERPINC1
28 vaginal yolk sac tumor 10.1 F7 F9
29 red color blindness 10.1 F2 F3
30 secretory diarrhea myopathy and deafness 10.1 F3 SERPINC1
31 vascular erectile tumor 10.1 F2 SERPINC1
32 miller-dieker lissencephaly syndrome 10.1 F2 SERPINC1
33 mixed epithelial tumor of ovary 10.1 F2 SERPINC1
34 peanut allergy 10.1 F2 SERPINC1
35 may-hegglin anomaly 10.1 F2 SERPINC1
36 left-right axis malformations 10.1 F2 SERPINC1
37 autonomic neuropathy 10.1 F2 F8 F9
38 conjunctivochalasis 10.1 F3 SERPINC1
39 lymphocytic colitis 10.1 F2 SERPINC1
40 alpha-2-macroglobulin deficiency 10.1 F2 F3 F8
41 monocular exotropia 10.1 F3 SERPINC1
42 schwannoma of jugular foramen 10.1 F2 SERPINC1
43 cerebellar astrocytoma 10.1 F2 SERPINC1
44 periosteal chondrosarcoma 10.1 F2 SERPINC1
45 low anorectal malformation 10.1 F2 F3 F8
46 angelucci's syndrome 10.1 F2 SERPINC1
47 cryptosporidiosis 10.1 F2 SERPINC1
48 angular blepharoconjunctivitis 10.1 F2 SERPINC1
49 ovarian papillary cystadenoma 10.1 F2 SERPINC1
50 acromegaloid hypertrichosis syndrome 10.1 F11 F8 F9

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



Diseases related to Hemophilia B

Symptoms & Phenotypes for Hemophilia B

Symptoms by clinical synopsis from OMIM:

306900

Clinical features from OMIM:

306900

Human phenotypes related to Hemophilia B:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 osteoarthritis 32 HP:0002758
2 abnormal bleeding 32 HP:0001892
3 gastrointestinal hemorrhage 32 HP:0002239
4 prolonged partial thromboplastin time 32 HP:0003645
5 joint hemorrhage 32 HP:0005261
6 prolonged whole-blood clotting time 32 HP:0005542
7 reduced factor ix activity 32 HP:0011858
8 persistent bleeding after trauma 32 HP:0001934

MGI Mouse Phenotypes related to Hemophilia B:

44
id 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 F7 F8 F9 SERPINC1 F10 F11

Drugs & Therapeutics for Hemophilia B

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

(show top 50) (show all 136)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
2
Menthol Approved Phase 4 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 71273 175805
5
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
6
Didanosine Approved Phase 4,Phase 2 69655-05-6 50599
7
Indinavir Approved Phase 4,Phase 2 150378-17-9 5362440
8
Lamivudine Approved, Investigational Phase 4,Phase 2 134678-17-4 60825
9
Stavudine Approved, Investigational Phase 4,Phase 2 3056-17-5 18283
10
Zalcitabine Approved Phase 4 7481-89-2 24066
11
Zidovudine Approved Phase 4,Phase 3,Phase 2 30516-87-1 35370
12 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1
13 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1
14 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
19
Histamine Phosphate Phase 4 51-74-1 65513
20 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
21 Adjuvants, Immunologic Phase 4
22 Hylan Phase 4
23 Protective Agents Phase 4
24 triamcinolone acetonide Phase 4
25 Triamcinolone diacetate Phase 4
26 Triamcinolone hexacetonide Phase 4
27 Viscosupplements Phase 4
28 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
29 Thrombin Phase 4,Phase 3,Phase 1
30 Antimetabolites Phase 4,Phase 3,Phase 2
31 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
32 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2
33
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
34 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2
35 Antibodies Phase 4,Phase 3,Phase 2
36 Immunoglobulins Phase 4,Phase 3,Phase 2
37 Protein C Phase 4,Phase 3
38 Deamino Arginine Vasopressin Phase 4
39 Arginine Vasopressin Phase 4
40 Natriuretic Agents Phase 4
41 Vasopressins Phase 4
42 arginine Nutraceutical Phase 4
43
Peginterferon alfa-2a Approved, Investigational Phase 3 198153-51-4 5360545
44
Ribavirin Approved Phase 3 36791-04-5 37542
45
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
46
rituximab Approved Phase 3 174722-31-7 10201696
47
Bivalirudin Approved, Investigational Phase 3 128270-60-0 16129704
48
Menadione Approved, Nutraceutical Phase 3 58-27-5 4055
49
Phytonadione Approved, Nutraceutical Phase 3 84-80-0 4812 5284607
50 Fibrinolytic Agents Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 244)
id Name Status NCT ID Phase
1 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4
2 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4
3 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4
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
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
11 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
12 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4
13 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4
14 Efficacy and Safety of Prothromplex Total (Prothrombin Complex Concentrate) in Oral Anticoagulant Reversal Completed NCT01159210 Phase 4
15 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4
16 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
17 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4
18 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4
19 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
20 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4
21 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4
22 Prothrombin Complex Concentrate Versus Fresh Frozen Plasma to Correct Coagulation Disorders in Adult Neurosurgical Patients Recruiting NCT02777424 Phase 4
23 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4
24 DDAVP vs. Exercise Not yet recruiting NCT03136003 Phase 4
25 Study Evaluating The Safety Of Xyntha In Usual Care Settings Terminated NCT00765726 Phase 4
26 Study Evaluating Safety Of Patients Switching To ReFacto AF In Usual Care Settings Terminated NCT00884390 Phase 4
27 Pivotal Study (Pharmacokinetics, Efficacy, Safety) of BAX 326 (rFIX) in Hemophilia B Patients Completed NCT01174446 Phase 3
28 Study Evaluating rFIX; BeneFIX in Severe Hemophilia B Completed NCT00037557 Phase 3
29 Study Evaluating On-Demand Treatment With BeneFIX In Chinese Subjects Completed NCT00866606 Phase 3
30 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
31 A Study to Compare the Pharmacokinetics and Safety of Replenine®-VF, Replenine® or Other Factor IX in Haemophilia B Completed NCT02263456 Phase 3
32 Study Comparing On-Demand Treatment With Two Prophylaxis Regimens Of BeneFIX In Patients With Severe Hemophilia B Completed NCT00364182 Phase 3
33 Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B Completed NCT01271868 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 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
36 Study of Recombinant Coagulation Factor IX Fc Fusion Protein, BIIB029, in Previously Treated Pediatric Participants With Hemophilia B Completed NCT01440946 Phase 3
37 Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia B Completed NCT01027364 Phase 3
38 BAX 326 Surgery Study in Hemophilia B Patients Completed NCT01507896 Phase 3
39 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
40 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
41 A Study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Patients Undergoing Major Surgery. Completed NCT02250560 Phase 3
42 An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients Completed NCT02231944 Phase 3
43 Study Evaluating rFIX; BeneFIX® in Hemophilia B Completed NCT00093171 Phase 3
44 Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B Completed NCT00768287 Phase 2, Phase 3
45 Safety and Efficacy of NNC-0156-0000-0009 in Haemophilia B Patients Completed NCT01333111 Phase 3
46 Efficacy and Safety of NNC-0156-0000-0009 During Surgical Procedures in Subjects With Haemophilia B Completed NCT01386528 Phase 3
47 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
48 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
49 BAX 326 Pediatric Study Completed NCT01488994 Phase 2, Phase 3
50 Recombinant Factor VIIa BI (rFVIIa BI) Treatment of Acute Bleeding Episodes Per an On-demand Regimen Completed NCT01757405 Phase 3

Search NIH Clinical Center for Hemophilia B

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hemophilia b

Genetic Tests for Hemophilia B

Genetic tests related to Hemophilia B:

id Genetic test Affiliating Genes
1 Hemophilia B(m) 29
2 Hemophilia B 24 F9

Anatomical Context for Hemophilia B

MalaCards organs/tissues related to Hemophilia B:

39
Brain, Liver, Whole Blood, Skeletal Muscle, Skin, Testes, Endothelial

Publications for Hemophilia B

Articles related to Hemophilia B:

(show top 50) (show all 565)
id Title Authors Year
1
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice. ( 28508290 )
2017
2
Evaluating the psychosocial impact of hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319335 )
2017
3
The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B. ( 28401797 )
2017
4
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
5
Recent advances in hemophilia B therapy. ( 28243977 )
2017
6
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
2017
7
Modulating immunogenicity of factor IX by fusion to an immunoglobulin Fc domain: a study using a hemophilia B mouse model. ( 28166609 )
2017
8
Immune Modulatory Cell Therapy for Hemophilia B Based on CD20-Targeted Lentiviral Gene Transfer to Primary B Cells. ( 28480307 )
2017
9
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B. ( 27865967 )
2017
10
Repeated Diffuse Alveolar Hemorrhage in a Patient with Hemophilia B. ( 28202865 )
2017
11
Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity. ( 28406575 )
2017
12
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
13
First case report of hemophilia B Leyden in Japan. ( 28168417 )
2017
14
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
15
Oral Tolerance Induction in Hemophilia B Dogs Fed with Transplastomic Lettuce. ( 28153098 )
2017
16
A milder clinical course for severe hemophilia B: a true or biased effect? ( 27252514 )
2016
17
Prophylactic efficacy of BeneFIX vs Alprolix in hemophilia B mice. ( 27106122 )
2016
18
Pharmacokinetics, Efficacy, and Safety of Nonacog Alfa in Previously Treated Patients with Moderately Severe to Severe Hemophilia B. ( 26969334 )
2016
19
Once-weekly prophylactic dosing of recombinant factor IX improves adherence in hemophilia B. ( 27942241 )
2016
20
Population pharmacokinetics of a new long-acting recombinant coagulation factor IX albumin fusion protein for patients with severe hemophilia B. ( 27513989 )
2016
21
Taylor JA, Kruse-Jarres R. A new era for hemophilia B treatment. Blood. 2016;127(14):1734-1736. ( 27737849 )
2016
22
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
23
Survey of the anti-factor IX immunoglobulin profiles in patients with hemophilia B using a fluorescence-based immunoassay. ( 27501440 )
2016
24
Laparoscopic nephrectomy in a hemophilia B patient. ( 27729993 )
2016
25
First Diagnosis of Hemophilia B in a Nonagenarian. ( 26782891 )
2016
26
Why should hemophilia B be milder than hemophilia A? ( 27132281 )
2016
27
Nonacog beta pegol in previously treated children with hemophilia B: results from an international open-label phase 3 trial. ( 27174727 )
2016
28
Gene therapy for hemophilia B mice with scAAV8-LP1-hFIX. ( 27052253 )
2016
29
Long-acting recombinant coagulation factor IX albumin fusion protein (rIX-FP) in hemophilia B: results of a phase 3 trial. ( 26755710 )
2016
30
A new era for hemophilia B treatment. ( 27056991 )
2016
31
Therapeutic efficacy in a hemophilia B model using a biosynthetic mRNA liver depot system. ( 27356951 )
2016
32
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
33
A Factor VIIa Variant with Enhanced Tissue Factor Independent Activity Speeds Wound Healing in a Mouse Hemophilia B Model. ( 26952654 )
2016
34
Difficulties in the treatment of an Infant with Hemophilia B. ( 27489472 )
2016
35
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
36
Biodegradable hydrophilic carriers for the oral delivery of hematological factor IX for hemophilia B treatment. ( 27863665 )
2016
37
Recombinant Factor IX Fc Fusion Protein Maintains Full Procoagulant Properties and Exhibits Prolonged Efficacy in Hemophilia B Mice. ( 26840952 )
2016
38
A genetic analysis of 23 Chinese patients with hemophilia B. ( 27109384 )
2016
39
New developments in the management of moderate-to-severe hemophilia B. ( 27099538 )
2016
40
[Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study]. ( 27529981 )
2016
41
Hemophilia B: Molecular Pathogenesis and Mutation Analysis. ( 25851415 )
2015
42
Engineering protein processing of the mammary gland to produce abundant hemophilia B therapy in milk. ( 26387706 )
2015
43
Clinical, instrumental, serological and histological findings suggest that hemophilia B may be less severe than hemophilia A. ( 26494839 )
2015
44
Hepatocyte-like cells derived from mouse induced pluripotent stem cells produce functional coagulation factor IX in a hemophilia B mouse model. ( 26395869 )
2015
45
A natural choice for hemophilia B. ( 25745178 )
2015
46
Gene therapy in an era of emerging treatment options for hemophilia B. ( 26149016 )
2015
47
Liver-directed lentiviral gene therapy in a dog model of hemophilia B. ( 25739762 )
2015
48
Translational data from adeno-associated virus-mediated gene therapy of hemophilia B in dogs. ( 25675273 )
2015
49
Moving forward toward a cure for hemophilia B. ( 25943496 )
2015
50
Novel, high incidence exercise-induced muscle bleeding model in hemophilia B mice: rationale, development and prophylactic intervention. ( 25370152 )
2015

Variations for Hemophilia B

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

66 (show top 50) (show all 138)
id 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 98)
id 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
id 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:

id 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:

id 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)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.93 F10 F11 F2 F7 F8 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F7 F8 F9
3 positive regulation of cell migration GO:0030335 9.71 F10 F3 F7
4 positive regulation of protein kinase B signaling GO:0051897 9.67 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 9.52 F2 F7
13 positive regulation of positive chemotaxis GO:0050927 9.51 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:

id 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 9.17 F10 F11 F2 F3 F7 F8

Sources for Hemophilia B

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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