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HEMB
MCID: HMP004
MIFTS: 70

Hemophilia B (HEMB)

Categories: Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Hemophilia B

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MalaCards integrated aliases for Hemophilia B:

IMPROVED
Name: Hemophilia B 57 11 24 19 58 73 28 12 53 5 43 14 38 71
Christmas Disease 57 24 19 58 75 73
Factor Ix Deficiency 57 11 24 19 73
F9 Deficiency 57 73 5
Plasma Thromboplastin Component Deficiency 57 73
Congenital Factor Ix Deficiency 11 58
Severe Hemophilia B 58 28
Mild Hemophilia B 58 28
Hemb 57 73
Bleeding Disorder in Hemophilia B Carriers 58
Moderate Congenital Factor Ix Deficiency 58
Severe Congenital Factor Ix Deficiency 58
Mild Congenital Factor Ix Deficiency 58
Moderate Congenital F9 Deficiency 58
Deficiency, Functional Factor Ix 11
Severe Congenital F9 Deficiency 58
Recessive X-Linked Hemophilia B 73
Congenital Factor Ix Disorder 11
Mild Congenital F9 Deficiency 58
Congenital F9 Deficiency 58
Moderate Hemophilia B 58
Hem B 19

Characteristics:


Inheritance:

Hemophilia B: X-linked recessive 58 57
Mild Hemophilia B: X-linked recessive 58
Moderate Hemophilia B: X-linked recessive 58
Severe Hemophilia B: X-linked recessive 58
Bleeding Disorder in Hemophilia B Carriers: X-linked recessive 58

Prevelance:

1-9/100000 (Europe, Albania, Belgium, Belize, Croatia, Cyprus, Czech Republic, Denmark, Finland, Greece, Hungary, Italy, Macedonia, the former Yugoslav Republic of, Netherlands, New Zealand, Norway, Qatar, Slovakia, Sweden, Switzerland, United Kingdom, Venezuela, Worldwide, France) 1-9/1000000 (Algeria, Argentina, Armenia, Austria, Azerbaijan, Belarus, Bosnia and Herzegovina, Brazil, Bulgaria, Chile, Colombia, Costa rica, Cuba, Dominican Republic, Ecuador, Egypt, El Salvador, Estonia, Georgia, Germany, Honduras, Iceland, Iran, Islamic Republic of, Iraq, Korea, Republic of, Latvia, Lithuania, Luxembourg, Malaysia, Malta, Mexico, Moldova, Republic of, Mongolia, Morocco, Pakistan, Palestinian Territory, occupied, Peru, Philippines, Poland, Portugal, Russian Federation, Saudi Arabia, Serbia, Singapore, Israel, Jamaica, Jordan, Kenya, Lebanon, Nicaragua, Panama, Paraguay, Romania, Slovenia, South Africa, Spain, Sudan, Tunisia, Turkey, Uruguay, Uzbekistan, Viet Nam, Zimbabwe) <1/1000000 (Bangladesh, Bolivia, Eritrea, Guatemala, India, Indonesia, Nepal, Nigeria, Senegal, Sierra leone, Sri Lanka, Thailand, Togo, Ukraine) 58

Age Of Onset:

Hemophilia B: Childhood,Infancy,Neonatal 58
Mild Hemophilia B: Infancy,Neonatal 58
Moderate Hemophilia B: Infancy,Neonatal 58
Severe Hemophilia B: Infancy,Neonatal 58

Age Of Death:

any age 58

OMIM®:

57 (Updated 24-Oct-2022)
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


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 Immune diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:12259
OMIM® 57 306900
ICD9CM 34 286.1
MeSH 43 D002836
NCIt 49 C26721
SNOMED-CT 68 41788008
ICD10 31 D67
MESH via Orphanet 44 D002836
ICD10 via Orphanet 32 D67
UMLS via Orphanet 72 C0008533
UMLS 71 C0008533
Sources

Summaries for Hemophilia B

About this section

OMIM®: 57 Hemophilia B due to factor IX deficiency is phenotypically indistinguishable from hemophilia A (306700), which results from deficiency of coagulation factor VIII (F8; 300841). The classic laboratory findings in hemophilia B include a prolonged activated partial thromboplastin time (aPTT) and a normal prothrombin time (PT) (Lefkowitz et al., 1993). Early studies made a distinction between cross-reactive-material (CRM)-negative and CRM-positive hemophilia B mutants. This classification referred to detection of the F9 antigen in plasma, even in the presence of decreased F9 activity. Detection of the antigen indicated the presence of a dysfunctional F9 protein. Roberts et al. (1968) found that about 90% of patients with hemophilia B were CRM-negative, whereas about 10% were CRM-positive. However, Bertina and Veltkamp (1978) found that a rather large proportion of the hemophilia B patients could be characterized as hemophilia B CRM+. They identified 14 cases of hemophilia B CRM+ from 11 families among a group of 33 patients. After immunologic and activity comparisons, they found at least 7 different factor IX variants. Bertina and Veltkamp (1978) noted the high heterogeneity within this group. In an editorial on variants of vitamin K-dependent coagulation factors, Bertina et al. (1979) stated that 9 defective variants of factor II, 5 variants of factor X, and many variants (about 180 pedigrees) of factor IX had been identified. At least one variant of factor VII (Padua) was also known. (306900) (Updated 24-Oct-2022)

MalaCards based summary: Hemophilia B, also known as christmas disease, is related to hemophilia and hemophilia b leyden. An important gene associated with Hemophilia B is F9 (Coagulation Factor IX), and among its related pathways/superpathways are Metabolism of proteins and Disease. The drugs Anti-inhibitor coagulant complex and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include brain, whole blood and liver, and related phenotypes are hematuria and intracranial hemorrhage

Orphanet 58 Hemophilia b: A rare hematological disorder characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.

Severe hemophilia b: A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.

Moderate hemophilia b: A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.

Mild hemophilia b: A mild form of hemophilia B characterized by a small deficiency of factor IX (biological activity between 5 and 40 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages do not occur. The condition may affect males and female carriers of disease-causing mutations.

Bleeding disorder in hemophilia b carriers: A rare bleeding disorder in association with carrier mutations in the F9 gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.

GARD: 19 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 genetic changes in the F9 gene.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A 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.

Wikipedia: 75 Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and... 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
Acquired Hemophilia B

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

(show top 50) (show all 398)
# Related Disease Score Top Affiliating Genes
1 hemophilia 33.1 F9 F8 F2 F10
2 hemophilia b leyden 32.9 HNF4A F9
3 hemophilia a 31.4 F9 F8 F7 F3 F2 F10
4 factor viii deficiency 31.1 SERPINC1 F9 F8 F7 F3 F2
5 nephrotic syndrome 30.8 SERPINC1 FGA F9 F3 F2
6 vitamin k deficiency bleeding 30.7 SERPINC1 GGCX F9 F8 F7 F3
7 hemarthrosis 30.4 SERPINC1 F9 F8 F7 F3 F2
8 heart septal defect 30.4 SERPINC1 F3 F2
9 sickle cell anemia 30.4 SERPINC1 F3 F2
10 prothrombin deficiency, congenital 30.3 SERPINC1 F2 F10
11 von willebrand's disease 30.3 SERPINC1 GP1BA F9 F8 F7 F3
12 hemopericardium 30.3 F3 F2
13 factor vii deficiency 30.3 SERPINC1 HNF4A F9 F8 F7 F3
14 thrombasthenia 30.3 GP1BA F3 F2
15 central retinal vein occlusion 30.2 SERPINC1 F3 F2
16 retinal vein occlusion 30.2 SERPINC1 F3 F2
17 transient cerebral ischemia 30.2 SERPINC1 F3 F2
18 compartment syndrome 30.2 SERPINC1 F9 F8 F7 F3 F2
19 endocarditis 30.2 SERPINC1 PF4 GP1BA F2
20 qualitative platelet defect 30.1 GP1BA F7 F3 F2
21 factor xi deficiency 30.1 SERPINC1 F9 F8 F7 F3 F2
22 thrombophilia due to thrombin defect 30.1 SERPINC1 PF4 FGA F9 F8 F3
23 hemorrhagic disease 30.0 SERPINC1 PF4 GP1BA F9 F8 F7
24 hemorrhoid 30.0 F3 F2
25 atrial fibrillation 30.0 PF4 F9 F3 F2 F10
26 lipoprotein quantitative trait locus 30.0 SERPINC1 PF4 FGA F7 F3 F2
27 factor xii deficiency 30.0 SERPINC1 F9 F7 F3 F2 F11
28 vascular disease 29.9 SERPINC1 GP1BA F8 F3 F2
29 factor xiii deficiency 29.9 SERPINC1 F9 F8 F7 F3 F2
30 cardiovascular system disease 29.8 SERPINC1 PF4 FGA F8 F7 F3
31 deficiency anemia 29.8 SERPINC1 GP1BA F9 F7 F3 F2
32 factor x deficiency 29.8 SERPINC1 F9 F8 F7 F3 F2
33 blood platelet disease 29.7 SERPINC1 PF4 GP1BA F8 F7 F3
34 prothrombin deficiency 29.7 SERPINC1 GGCX F9 F8 F7 F3
35 disseminated intravascular coagulation 29.6 SERPINC1 FGA F9 F7 F3 F2
36 thrombophilia 29.6 SERPINC1 PF4 FGA F9 F8 F7
37 thrombosis 29.5 SERPINC1 PF4 GP1BA FGA F9 F8
38 thrombocytopenia 29.5 SERPINC1 PF4 GP1BA FGA F9 F8
39 myocardial infarction 29.3 SERPINC1 PF4 GP1BA FGA F9 F8
40 acquired hemophilia b 11.2
41 arthropathy 10.5
42 osteoarthritis 10.4
43 emphysematous cholecystitis 10.4 F3 F2
44 femoral neuropathy 10.4 F3 F2
45 blue toe syndrome 10.4 F3 F2
46 renal pelvis squamous cell carcinoma 10.4 F3 F2
47 subclavian steal syndrome 10.4 F3 F2
48 lateral sinus thrombosis 10.4 SERPINC1 F2
49 acalculous cholecystitis 10.4 F3 F2
50 central nervous system origin vertigo 10.4 SERPINC1 F2

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



Diseases related to Hemophilia B
Sources

Symptoms & Phenotypes for Hemophilia B

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Human phenotypes related to Hemophilia B:

58 30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hematuria 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000790
2 intracranial hemorrhage 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002170
3 prolonged bleeding time 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003010
4 poor wound healing 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0001058
5 menometrorrhagia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0400008
6 prolonged partial thromboplastin time 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0003645
7 joint hemorrhage 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0005261
8 intramuscular hematoma 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012233
9 prolonged bleeding after dental extraction 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0006298
10 prolonged bleeding after surgery 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004846
11 spontaneous, recurrent epistaxis 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0004406
12 reduced factor ix activity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011858
13 cephalohematoma 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0012541
14 delayed onset bleeding 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0040232
15 gastrointestinal hemorrhage 30 HP:0002239
16 osteoarthritis 30 HP:0002758
17 abnormal bleeding 30 HP:0001892
18 persistent bleeding after trauma 30 HP:0001934
19 prolonged whole-blood clotting time 30 HP:0005542

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Laboratory Abnormalities:
platelet count normal
ptt prolonged
pt normal
platelet function normal
factor ix deficiency

Hematology:
factor ix deficiency

Clinical features from OMIM®:

306900 (Updated 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 CKM CPB2 DBP F10 F11 F2
2 no effect GR00402-S-2 10.18 CKM CPB2 DBP F10 F2 F3

MGI Mouse Phenotypes related to Hemophilia B:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 CKM CPB2 DBP F10 F11 F2
2 growth/size/body region MP:0005378 10.13 CKM CPB2 F10 F11 F2 F3
3 liver/biliary system MP:0005370 10.06 DBP F11 F9 FGA FURIN HNF4A
4 cardiovascular system MP:0005385 10.03 CKM DBP F10 F11 F2 F3
5 cellular MP:0005384 10 CKM F11 F2 F3 FGA FURIN
6 hematopoietic system MP:0005397 9.73 F11 F2 F3 F8 F9 FGA
7 mortality/aging MP:0010768 9.5 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 all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
2
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
3
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
4
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
5 Factor VIII Phase 4
6 Pharmaceutical Solutions Phase 4
7 Coagulants Phase 4
8 Hylan Phase 4
9
Triamcinolone hexacetonide Phase 4
10
Triamcinolone diacetate Phase 4
11
Triamcinolone Acetonide Phase 4 6436
12
Phylloquinone Approved, Investigational Phase 3 572-96-3, 84-80-0 5280585 5284607
13
Menadione Approved, Nutraceutical Phase 3 58-27-5 4055
14
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 2052-63-3, 22737-97-9, 22737-96-8, 68-26-8 9904001 9947823 5280382 445354
15 Menaquinone Investigational Phase 3 1182-68-9
16 Antibodies Phase 3
17 Immunoglobulins Phase 3
18 Lipoprotein-associated coagulation inhibitor Phase 3
19
Thromboplastin Phase 3
20
Naphthoquinone Phase 3
21 Vitamins Phase 3
22 Vitamin K Phase 3
23 Retinol palmitate Phase 3
24 Hemostatics Phase 3
25
Serine Investigational, Nutraceutical Phase 3 56-45-1 5951
26 Liver Extracts Phase 1, Phase 2
27
Zinc cation Approved, Experimental, Investigational Phase 1 7440-66-6, 23713-49-7 32051
28
Histamine Approved, Investigational 51-45-6 774
29
Thrombin Approved, Investigational
30
Sodium citrate Approved, Investigational 68-04-2 23431961
31
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
32
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
33
Histamine phosphate 51-74-1 134614
34 Micronutrients
35 Calcium, Dietary
36 Calciferol
37 Trace Elements
38 Hormones
39 Antibodies, Blocking
40 Antidepressive Agents
41 Analgesics
42 Citrate
43 Chrysarobin
44
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 215)
# Name Status NCT ID Phase Drugs
1 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 Unknown status NCT04108260 Phase 4 Albutrepenonacog Alfa 1 UNT [IDELVION]
2 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
3 Phase IV Multi-Center, Prospective, Interventional, Post-Marketing Study in Hemophilia B Patients in India Receiving RIXUBIS as On-demand or Prophylaxis Under Standard Clinical Practice Completed NCT03565237 Phase 4
4 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
5 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. Completed NCT04286412 Phase 4
6 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
7 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
8 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
9 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
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;factor VIII
11 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
12 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
13 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
14 Safety of SEVENFACT® for the Treatment of Bleeding Events in Patients With Hemophilia A or B With Inhibitors Recruiting NCT04647227 Phase 4 coagulation factor VIIa [recombinant]-jncw
15 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
16 Evaluation of a Recombinant Factor IX Product, APVO101, in Previously-Treated Pediatric Patients With Hemophilia B Completed NCT03855280 Phase 3 APVO101
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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)
27 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
28 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
29 A Phase 3b Open-label, Multicenter, Safety and Efficacy Extension Study of a Recombinant Coagulation Factor IX Albumin Fusion Protein (rIX-FP) in Subjects With Hemophilia B Completed NCT02053792 Phase 3
30 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
31 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
32 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
33 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
34 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
35 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
36 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]
37 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 Completed NCT02448680 Phase 3
38 ATLAS-INH: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, With Inhibitory Antibodies to Factor VIII or IX Completed NCT03417102 Phase 3 fitusiran;Bypassing agents
39 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
40 ATLAS-A/B: A Phase 3 Study to Evaluate the Efficacy and Safety of Fitusiran in Patients With Hemophilia A or B, Without Inhibitory Antibodies to Factor VIII or IX Completed NCT03417245 Phase 3 fitusiran;factor concentrates
41 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)
42 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
43 An Open-study to Investigate the Safety and Efficacy of Replenine®-VF in Haemophilia B Subjects Undergoing Surgery. Completed NCT02250573 Phase 3
44 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
45 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
46 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
47 An Open Study to Investigate the Safety and Efficacy of Replenine®-VF in Severe Haemophilia B Patients. Completed NCT02231944 Phase 3
48 Safety and Efficacy of NNC-0156-0000-0009 After Long-Term Exposure in Patients With Haemophilia B Completed NCT01395810 Phase 3 nonacog beta pegol
49 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
50 An Open-Label Study in Adolescent and Adult Severe (Coagulation Factor Activity <1%) Hemophilia A Participants With or Without Inhibitors or Moderately Severe to Severe Hemophilia B Participants (Coagulation Factor Activity ≤2%) With or Without Inhibitors Comparing Standard Treatment to PF-06741086 Prophylaxis Recruiting NCT03938792 Phase 3 PF-06741086

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

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Genetic tests related to Hemophilia B:

# Genetic test Affiliating Genes
1 Hemophilia B(m) 28
2 Severe Hemophilia B 28
3 Mild Hemophilia B 28
Sources

Anatomical Context for Hemophilia B

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Organs/tissues related to Hemophilia B:

MalaCards : Brain, Whole Blood, Liver, Bone, Skeletal Muscle, T Cells, Bone Marrow
Sources

Publications for Hemophilia B

About this section

Articles related to Hemophilia B:

(show top 50) (show all 2460)
# Title Authors PMID Year
1
Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. 53 62 57 5
15266608 2004
2
Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age. 24 57 5
10647899 1999
3
Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). 53 62 57 5
1986380 1991
4
Genotype analysis identifies the cause of the "royal disease". 62 57 5
19815722 2009
5
Somatic mosaicism and compound heterozygosity in female hemophilia B. 62 57 5
10942410 2000
6
The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation. 62 57 5
10874302 2000
7
Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome. 62 57 5
9590153 1998
8
The rates and patterns of deletions in the human factor IX gene. 62 57 5
8304338 1994
9
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. 62 57 5
8352232 1993
10
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. 62 57 5
8478007 1993
11
Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians. 62 57 5
8499919 1993
12
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation. 62 57 5
8434583 1993
13
Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. 62 57 5
1615485 1992
14
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. 62 57 5
1864609 1991
15
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. 62 57 5
2198809 1990
16
Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. 62 57 5
1969838 1990
17
A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel). 62 57 5
2762170 1989
18
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. 62 57 5
3411192 1988
19
A complete deletion of the factor IX gene and new TaqI variant in a hemophilia B kindred. 62 57 5
2841226 1988
20
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. 62 57 5
3029178 1987
21
Hemophilia B with inhibitor: molecular analysis of the subtotal deletion of the factor IX gene. 62 57 5
2992643 1985
22
Gene deletions in patients with haemophilia B and anti-factor IX antibodies. 62 57 5
6843667 1983
23
The abnormal factor IX of hemophilia B+ variants. 62 57 5
734633 1978
24
Hemophilia B: characterization of genetic variants and detection of carriers. 62 57 5
884315 1977
25
Christmas disease, color-blindness and blood group Xga. 62 57 5
5298508 1967
26
Haemophilia Bm: a new type of factor-IX deficiency. 62 57 5
4163943 1967
27
Christmas disease: a condition previously mistaken for haemophilia. 62 57 5
12997790 1952
28
Six characters in search of an author: the history of the nomenclature of coagulation factors. 57 5
12780784 2003
29
Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity. 57 5
11328285 2001
30
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. 57 5
8594556 1996
31
Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX. 57 5
8318985 1993
32
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992. 57 5
1598234 1992
33
Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity. 57 5
1873221 1991
34
Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD). 57 5
2370049 1990
35
Molecular pathology of haemophilia B. 57 5
2743975 1989
36
Molecular studies of haemophilia B in Sweden. Identification of patients with total deletion of the factor IX gene and without inhibitory antibodies. 57 5
2848757 1988
37
Gene deletion in an Italian haemophilia B subject. 57 5
4045960 1985
38
Bleeding in carriers of hemophilia. 24 57
16551972 2006
39
DNA variation in a 13-Mb region including the F9 gene: inferring the genealogical history and causal role of a hemophilia B mutation (IVS 5+13 A-->G). 53 62 5
14675097 2003
40
AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B. 53 62 57
12515715 2003
41
Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B. 53 62 57
11380446 2001
42
Long-term correction of canine hemophilia B by gene transfer of blood coagulation factor IX mediated by adeno-associated viral vector. 53 62 57
9883840 1999
43
A Gly --> Ser change causes defective folding in vitro of calcium-binding epidermal growth factor-like domains from factor IX and fibrillin-1. 53 62 5
9525872 1998
44
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 53 62 5
1346975 1992
45
Expression of human factor IX in rat capillary endothelial cells: toward somatic gene therapy for hemophilia B. 53 62 57
1896457 1991
46
Expression of human factor IX in rabbit hepatocytes by retrovirus-mediated gene transfer: potential for gene therapy of hemophilia B. 53 62 57
2385589 1990
47
Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations. 62 5
32875744 2020
48
Molecular characterization of hemophilia B patients in Colombia. 62 5
32155688 2020
49
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation. 62 5
29993188 2018
50
Mutation Spectrum and Genotype-Phenotype Analyses in a Pakistani Cohort With Hemophilia B. 62 5
28752769 2018
Sources

Variations for Hemophilia B

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ClinVar genetic disease variations for Hemophilia B:

IMPROVED
5 (show top 50) (show all 364)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F9 NM_000133.4(F9):c.169C>T (p.Gln57Ter) SNV Pathogenic
 10567 rs137852223 GRCh37: X:138619249-138619249
GRCh38: X:139537090-139537090
2 F9 NM_000133.4(F9):c.52T>C (p.Cys18Arg) SNV Pathogenic
 10568 rs387906474 GRCh37: X:138612975-138612975
GRCh38: X:139530816-139530816
3 F9 NM_000133.4(F9):c.79G>A (p.Glu27Lys) SNV Pathogenic
 10570 rs387906475 GRCh37: X:138613002-138613002
GRCh38: X:139530843-139530843
4 F9 NM_000133.4(F9):c.218A>T (p.Glu73Val) SNV Pathogenic
 10571 rs137852226 GRCh37: X:138619298-138619298
GRCh38: X:139537139-139537139
5 F9 NM_000133.4(F9):c.237A>C (p.Glu79Asp) SNV Pathogenic
 10574 rs137852229 GRCh37: X:138619317-138619317
GRCh38: X:139537158-139537158
6 F9 NM_000133.4(F9):c.278A>G (p.Asp93Gly) SNV Pathogenic
 10576 rs137852230 GRCh37: X:138623235-138623235
GRCh38: X:139541076-139541076
7 F9 NM_000133.4(F9):c.287A>C (p.Gln96Pro) SNV Pathogenic
 10577 rs137852231 GRCh37: X:138623244-138623244
GRCh38: X:139541085-139541085
8 F9 NM_000133.4(F9):c.329A>G (p.Asp110Gly) SNV Pathogenic
 10580 rs137852234 GRCh37: X:138623286-138623286
GRCh38: X:139541127-139541127
9 F9 NM_000133.4(F9):c.479G>C (p.Gly160Ala) SNV Pathogenic
 10581 rs137852235 GRCh37: X:138630609-138630609
GRCh38: X:139548450-139548450
10 F9 NM_000133.4(F9):c.496A>T (p.Asn166Tyr) SNV Pathogenic
 10582 rs137852236 GRCh37: X:138630626-138630626
GRCh38: X:139548467-139548467
11 F9 NM_000133.4(F9):c.655C>T (p.Gln219Ter) SNV Pathogenic
 10589 rs137852239 GRCh37: X:138633355-138633355
GRCh38: X:139551196-139551196
12 F9 NM_000133.4(F9):c.677G>A (p.Arg226Gln) SNV Pathogenic
Pathogenic
 10591 rs137852241 GRCh37: X:138633377-138633377
GRCh38: X:139551218-139551218
13 F9 NM_000133.4(F9):c.541G>T (p.Val181Phe) SNV Pathogenic
 10592 rs387906477 GRCh37: X:138633241-138633241
GRCh38: X:139551082-139551082
14 F9 NM_000133.4(F9):c.682G>T (p.Val228Phe) SNV Pathogenic
Pathogenic
 10593 rs137852243 GRCh37: X:138633382-138633382
GRCh38: X:139551223-139551223
15 F9 NM_000133.4(F9):c.709C>T (p.Gln237Ter) SNV Pathogenic
 10595 rs137852244 GRCh37: X:138633409-138633409
GRCh38: X:139551250-139551250
16 F9 NM_000133.4(F9):c.710A>T (p.Gln237Leu) SNV Pathogenic
 10596 rs137852245 GRCh37: X:138633410-138633410
GRCh38: X:139551251-139551251
17 F9 NM_000133.4(F9):c.723+1G>T SNV Pathogenic
 10597 GRCh37: X:138633424-138633424
GRCh38: X:139551265-139551265
18 F9 NM_000133.4(F9):c.804T>G (p.Cys268Trp) SNV Pathogenic
 10599 rs137852246 GRCh37: X:138642980-138642980
GRCh38: X:139560821-139560821
19 F9 NM_000133.4(F9):c.697G>A (p.Ala233Thr) SNV Pathogenic
 10601 rs387906478 GRCh37: X:138633397-138633397
GRCh38: X:139551238-139551238
20 F9 NM_000133.4(F9):c.917A>G (p.Asn306Ser) SNV Pathogenic
 10604 rs137852251 GRCh37: X:138643761-138643761
GRCh38: X:139561602-139561602
21 F9 NM_000133.4(F9):c.998C>T (p.Pro333Leu) SNV Pathogenic
 10605 rs137852252 GRCh37: X:138643842-138643842
GRCh38: X:139561683-139561683
22 F9 NM_000133.4(F9):c.1058T>C (p.Val353Ala) SNV Pathogenic
 10608 rs137852255 GRCh37: X:138643902-138643902
GRCh38: X:139561743-139561743
23 F9 NM_000133.4(F9):c.1064G>T (p.Gly355Val) SNV Pathogenic
 10609 rs137852256 GRCh37: X:138643908-138643908
GRCh38: X:139561749-139561749
24 F9 NM_000133.4(F9):c.1144T>C (p.Cys382Arg) SNV Pathogenic
 10614 rs137852260 GRCh37: X:138643988-138643988
GRCh38: X:139561829-139561829
25 F9 NM_000133.4(F9):c.1180A>G (p.Met394Val) SNV Pathogenic
 10616 rs137852262 GRCh37: X:138644024-138644024
GRCh38: X:139561865-139561865
26 F9 NM_000133.4(F9):c.1217C>T (p.Ser406Leu) SNV Pathogenic
 10617 rs137852263 GRCh37: X:138644061-138644061
GRCh38: X:139561902-139561902
27 F9 NM_000133.4(F9):c.1088G>T (p.Gly363Val) SNV Pathogenic
 10618 rs387906479 GRCh37: X:138643932-138643932
GRCh38: X:139561773-139561773
28 F9 NM_000133.4(F9):c.1240C>A (p.Pro414Thr) SNV Pathogenic
 10620 rs137852265 GRCh37: X:138644084-138644084
GRCh38: X:139561925-139561925
29 F9 NM_000133.4(F9):c.1307C>A (p.Ala436Glu) SNV Pathogenic
Pathogenic
 10622 rs137852266 GRCh37: X:138644151-138644151
GRCh38: X:139561992-139561992
30 F9 NM_000133.4(F9):c.1324G>A (p.Gly442Arg) SNV Pathogenic
 10624 rs137852267 GRCh37: X:138644168-138644168
GRCh38: X:139562009-139562009
31 F9 NM_000133.4(F9):c.1357T>C (p.Trp453Arg) SNV Pathogenic
 10628 rs137852269 GRCh37: X:138644201-138644201
GRCh38: X:139562042-139562042
32 F9 NM_000133.4(F9):c.1369A>T (p.Lys457Ter) SNV Pathogenic
 10629 rs137852270 GRCh37: X:138644213-138644213
GRCh38: X:139562054-139562054
33 F9 F9, EX1-8DEL DEL Pathogenic
 10630 GRCh37:
GRCh38:
34 F9 F9, EX1DEL DEL Pathogenic
 10631 GRCh37:
GRCh38:
35 F9 F9, EX1-3DEL DEL Pathogenic
 10632 GRCh37:
GRCh38:
36 F9 F9, EX2-8DEL DEL Pathogenic
 10633 GRCh37:
GRCh38:
37 F9 F9, EX4-5DEL DEL Pathogenic
 10634 GRCh37:
GRCh38:
38 F9 F9, EX4DEL DEL Pathogenic
 10625 GRCh37:
GRCh38:
39 F9 F9, EX4INS INSERT Pathogenic
 10626 GRCh37:
GRCh38:
40 F9 F9, EX5-8DEL DEL Pathogenic
 10635 GRCh37:
GRCh38:
41 F9 F9, EX51INS INSERT Pathogenic
 10636 GRCh37:
GRCh38:
42 F9 F9, EX7DEL DEL Pathogenic
 10637 GRCh37:
GRCh38:
43 F9 NM_000133.4(F9):c.1187G>C (p.Cys396Ser) SNV Pathogenic
 10642 rs137852273 GRCh37: X:138644031-138644031
GRCh38: X:139561872-139561872
44 F9 NM_000133.4(F9):c.328G>A (p.Asp110Asn) SNV Pathogenic
 10643 rs137852274 GRCh37: X:138623285-138623285
GRCh38: X:139541126-139541126
45 F9 NM_000133.4(F9):c.1232G>T (p.Ser411Ile) SNV Pathogenic
 10649 rs137852276 GRCh37: X:138644076-138644076
GRCh38: X:139561917-139561917
46 F9 NM_000133.4(F9):c.1231A>G (p.Ser411Gly) SNV Pathogenic
 10650 rs137852277 GRCh37: X:138644075-138644075
GRCh38: X:139561916-139561916
47 F9 NM_000133.4(F9):c.1228G>C (p.Asp410His) SNV Pathogenic
 10651 rs137852278 GRCh37: X:138644072-138644072
GRCh38: X:139561913-139561913
48 F9 NM_000133.4(F9):c.872A>T (p.Glu291Val) SNV Pathogenic
 10652 rs137852279 GRCh37: X:138643716-138643716
GRCh38: X:139561557-139561557
49 F9 F9, ALU INSERTION, EX5 INSERT Pathogenic
 10654 GRCh37:
GRCh38:
50 F9 NM_000133.4(F9):c.31T>A (p.Ser11Thr) SNV Pathogenic
 10656 rs387906480 GRCh37: X:138612954-138612954
GRCh38: X:139530795-139530795

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 rs1275708479
5 F9 p.Arg43Leu VAR_006525 rs1275708479
6 F9 p.Arg43Trp VAR_006526 rs1603264205
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 rs1410080079
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 rs1603264719
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 rs1603264727
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 rs1603265481
39 F9 p.Gly139Asp VAR_006561 rs1216516070
40 F9 p.Gly139Ser VAR_006562
41 F9 p.Cys155Phe VAR_006563 rs1330705989
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:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 259590 X 138440560 138473283 Insertion F9 Hemophilia B
Sources

Expression for Hemophilia B

About this section
Search GEO for disease gene expression data for Hemophilia B.
Sources

Pathways for Hemophilia B

About this section


Pathways directly related to Hemophilia B:

# Pathway Source
1 Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) Reactome 66
2 Diseases of hemostasis Reactome 66
3 Defective factor IX causes hemophilia B Reactome 66
4 Defective gamma-carboxylation of F9 Reactome 66
5 Defective F9 activation Reactome 66
6 Defective F9 variant does not activate FX Reactome 66
7 Defective F9 secretion Reactome 66

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Metabolism of proteins 66
Show member pathways
 13.71 CPB2 F10 F2 F7 F8 F9
2
Disease 66
Show member pathways
 13.6 GP1BA GGCX FURIN FGA F9 F8
3
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.12 F10 F11 F2 F3 F7 F8
4
Complement cascade 66
Show member pathways
 12.39 FGA F2 F10 CPB2
5
Collagen chain trimerization 66
Show member pathways
 12.36 F10 F11 F2 F3 F7 F8
6
Diseases of hemostasis 66
Show member pathways
 11.9 SERPINC1 PF4 GP1BA GGCX FGA F9
7
"Gamma carboxylation, hypusine formation and arylsulfatase activation" 66
Show member pathways
 11.74 GGCX FURIN F9 F8 F7 F2
8
Integrin signaling 66
Show member pathways
 11.68 GP1BA FGA F2
9
"Heparin-induced Thrombocytopenia Pathway, Adverse Drug Reaction" 60
11.18 PF4 F3 F2
10
"Warfarin Pathway, Pharmacodynamics" 60
Show member pathways
 11.17 GGCX F9 F7 F2 F10
11
Beta2 integrin cell surface interactions 61
11.04 GP1BA FGA F10
12
Defective factor IX causes thrombophilia 66
Show member pathways
 10.62 F9 F8 F10
13
Biomarkers for urea cycle disorders 74
10.57 F7 F10
14
"COVID-19, thrombosis and anticoagulation" 74
10.3 FGA F2
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 10.49 CPB2 F10 F11 F2 F3 F7
2 collagen-containing extracellular matrix GO:0062023 10.17 SERPINC1 PF4 FGA F9 F7 F3
3 endoplasmic reticulum lumen GO:0005788 10.1 F10 F2 F7 F8 F9 FGA
4 platelet alpha granule lumen GO:0031093 9.93 PF4 FGA F8
5 serine-type endopeptidase complex GO:1905370 9.76 F9 F7 F2 F10
6 extracellular space GO:0005615 9.75 CKM CPB2 F10 F11 F2 F3
7 Golgi lumen GO:0005796 9.73 FURIN F9 F8 F7 F2 F10
8 serine-type peptidase complex GO:1905286 9.71 F7 F3
9 obsolete intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10

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

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.14 CPB2 F10 F11 F2 F7 F9
2 blood coagulation GO:0007596 10.09 CPB2 F10 F11 F2 F3 F7
3 fibrinolysis GO:0042730 9.92 GP1BA FGA F2 CPB2
4 platelet activation GO:0030168 9.91 PF4 GP1BA FGA F2
5 plasminogen activation GO:0031639 9.78 FGA F11
6 blood coagulation, intrinsic pathway GO:0007597 9.76 GP1BA F8
7 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.73 F7 F3
8 regulation of blood coagulation GO:0030193 9.73 F11 F2 GP1BA SERPINC1
9 regulation of body fluid levels GO:0050878 9.55 F9 F8 F7 F2 F10
10 hemostasis GO:0007599 9.36 CPB2 F10 F11 F2 F3 F7

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.96 SERPINC1 PF4 FURIN F2 F11
2 endopeptidase activity GO:0004175 9.8 FURIN F9 F7 F10
3 peptidase activity GO:0008233 9.76 CPB2 F10 F11 F2 F7 F9
4 serine-type peptidase activity GO:0008236 9.5 FURIN F9 F7 F2 F11 F10
5 serine-type endopeptidase activity GO:0004252 9.47 FURIN F9 F7 F3 F2 F11
Sources

Sources for Hemophilia B

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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