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MCID: HMP007
MIFTS: 52

Hemophilia

Categories: Blood diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hemophilia

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MalaCards integrated aliases for Hemophilia:

Name: Hemophilia 73 20 43 58 36 29 42 3 62 62
Hemophilia, Hereditary 43
Hemophilia, Familial 43
Hemophilia, Nos 70
Hemophilia a 70
Haemophilia 43

Characteristics:

Orphanet epidemiological data:

58
hemophilia
Inheritance: X-linked recessive; Age of onset: Infancy;

Classifications:

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


External Ids:

KEGG 36 H00219
UMLS via Orphanet 71 C0684275
Orphanet 58 ORPHA448
UMLS 70 C0019069 C0684275
Sources

Summaries for Hemophilia

About this section
MedlinePlus Genetics : 43 Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. 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.

MalaCards based summary : Hemophilia, also known as hemophilia, hereditary, is related to hemophilia b and acquired hemophilia, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Hemophilia is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Complement and coagulation cascades and ECM-receptor interaction. The drugs rituximab and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include liver, t cells and bone.

GARD : 20 Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. 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. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations.

MedlinePlus : 42 Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. Without it, you may bleed for a long time after an injury or accident. You also may bleed into your knees, ankles, and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream. You may need it on a regular basis, or just when bleeding occurs. NIH: National Heart, Lung, and Blood Institute

CDC : 3 Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly. People with hemophilia can live full lives and enjoy most of the activities that other people do. If you have hemophilia, or know someone who does, it's important to learn how to stay as healthy as possible.

KEGG : 36 Hemophilia A and B are X-linked recessive disorders which are the most common hereditary hemorrhagic disorders caused by a deficiency or dysfunction of blood coagulation factor VIII (FVIII) and factor IX (FIX), respectively. Von Willebrand disease is caused by quantitative and/or qualitative defects of von Willebrand factor and inherited in both autosomal dominant and recessive manner.

PubMed Health : 62 About hemophilia: Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.

Wikipedia : 73 Haemophilia (also spelled hemophilia) is a mostly inherited genetic disorder that impairs the body's... more...

Sources

Related Diseases for Hemophilia

About this section

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a

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

(show top 50) (show all 837)
# Related Disease Score Top Affiliating Genes
1 hemophilia b 32.7 F9 F8 F7
2 acquired hemophilia 32.6 F9 F8
3 acquired hemophilia a 32.5 F9 F8
4 von willebrand's disease 32.0 F9 F8 F7
5 factor viii deficiency 31.5 TFPI LOC106146150 F9 F8 F7
6 hemarthrosis 31.5 F9 F8 F7
7 factor xi deficiency 31.2 TFPI F9 F8 F7
8 arthropathy 31.0 F9 F8
9 hemophilia a 30.9 LOC106146152 LOC106146151 LOC106146150 LOC106146144 LOC106146143 F9
10 compartment syndrome 30.5 F8 F7
11 factor vii deficiency 30.3 F9 F8 F7
12 pulmonary embolism 30.2 F9 F8
13 thrombophilia 30.0 F9 F8 F7
14 factor v deficiency 30.0 F9 F8 F7
15 factor xii deficiency 29.9 F9 F7
16 thrombophlebitis 29.8 F8 F7
17 hemorrhagic disease 29.8 TFPI F9 F8 F7
18 thrombosis 29.8 TFPI F9 F8 F7
19 acquired von willebrand syndrome 29.7 F8 F7
20 vitamin k deficiency bleeding 29.7 F9 F8 F7
21 glanzmann thrombasthenia 29.7 F9 F8 F7
22 cardiac tamponade 29.7 F9 F8 F7
23 afibrinogenemia, congenital 29.6 F8 F7
24 disseminated intravascular coagulation 29.6 TFPI F9 F7
25 x-linked recessive disease 29.5 F9 F8
26 factor x deficiency 29.4 F9 F7
27 prothrombin deficiency 29.4 F9 F8 F7
28 blood coagulation disease 29.3 TFPI F9 F8 F7
29 hemophilic arthropathy 11.1
30 hemophilia a with vascular abnormality 11.1
31 factor v and factor viii, combined deficiency of, 1 11.0
32 factor v and factor viii, combined deficiency of, 2 11.0
33 hepatitis c 11.0
34 von willebrand disease, type 1 10.9
35 von willebrand disease, type 3 10.9
36 von willebrand disease, type 2 10.9
37 acquired immunodeficiency syndrome 10.6
38 hepatitis c virus 10.5
39 plica syndrome 10.5
40 synovitis 10.5
41 human immunodeficiency virus type 1 10.4
42 immune deficiency disease 10.4
43 rare hemorrhagic disorder 10.4
44 autoimmune disease 10.4
45 hepatitis 10.4
46 thrombocytopenia 10.4
47 purpura 10.3
48 liver disease 10.3
49 thalassemia 10.3
50 hepatitis a 10.2

Graphical network of the top 20 diseases related to Hemophilia:



Diseases related to Hemophilia
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Symptoms & Phenotypes for Hemophilia

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UMLS symptoms related to Hemophilia:


angina pectoris; chest pain; edema
Sources

Drugs & Therapeutics for Hemophilia

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PubMed Health treatment related to Hemophilia: 62

The main treatment for hemophilia is called replacement therapy . Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein . These infusions help replace the clotting factor that's missing or low. Clotting factor concentrates can be made from human blood . The blood is treated to prevent the spread of diseases, such as hepatitis . With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small. To further reduce the risk, you or your child can take clotting factor concentrates that aren't made from human blood . These are called recombinant clotting factors . Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor. You may have replacement therapy on a regular basis to prevent bleeding . This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment , on an as-needed basis, is called demand therapy. Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy.

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

(show top 50) (show all 216)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 4 174722-31-7 10201696
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
tannic acid Approved Phase 4 1401-55-4
4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
5
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
6
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
7
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
8
Zidovudine Approved Phase 4 30516-87-1 35370
9
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
10
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
11
Didanosine Approved Phase 4 69655-05-6 50599
12
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
13
Indinavir Approved Phase 4 150378-17-9 5362440
14
Ribavirin Approved Phase 4 36791-04-5 37542
15
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
16
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
17
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
18 Hormone Antagonists Phase 4
19 glucocorticoids Phase 4
20 Antineoplastic Agents, Hormonal Phase 4
21 Deamino Arginine Vasopressin Phase 4
22 Anti-Infective Agents Phase 4
23 Antiviral Agents Phase 4
24 Vasopressins Phase 4
25 Arginine Vasopressin Phase 4
26 Antimetabolites Phase 4
27 Hylan Phase 4
28 Triamcinolone diacetate Phase 4
29 triamcinolone acetonide Phase 4
30 Triamcinolone hexacetonide Phase 4
31 Anti-Retroviral Agents Phase 4
32 Reverse Transcriptase Inhibitors Phase 4
33 Anti-HIV Agents Phase 4
34 interferons Phase 4
35 Interferon-alpha Phase 4
36 Hemostatics Phase 4
37 Antibodies, Bispecific Phase 4
38 BAX 855 Phase 4
39 Immunoglobulin Fc Fragments Phase 4
40
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
41
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
42
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
43
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
44
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
45
Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
46
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
47
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
48 Methylprednisolone Acetate Phase 3
49 Alkylating Agents Phase 3
50 Pharmaceutical Solutions Phase 3

Interventional clinical trials:

(show top 50) (show all 676)
# Name Status NCT ID Phase Drugs
1 Hematology Oncology Center Unknown status NCT02999308 Phase 4
2 IMMUNE TOLERANCE INDUCTION, BY FACTOR VIII CONCENTRATE CONTAINING VON WILLEBRAND FACTOR, IN SEVERE OR MODERATE HAEMOPHILIA A PATIENTS WITH INHIBITORS Unknown status NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
3 DDAVP vs Exercise in Patients With Mild Hemophilia A - Which is Better and do They Work Synergistically in Improving Hemostasis? Unknown status NCT03136003 Phase 4 DDAVP
4 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4 ADVATE [Antihemophilic Factor (Recombinant)];ADVATE [Antihemophilic Factor (Recombinant)]
5 Beijing Children's Hospital, Capital Medical University Unknown status NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab
6 An Open-Label, Randomized, Parallel, Multicenter Trial Comparing the Safety and Efficacy of rFVIIa When Administered as i.v. Bolus or i.v. Continuous Infusion to Hemophiliacs With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
7 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
8 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
9 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
10 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
11 A Non-Controlled, Open-Label, Multicenter, Study of Immune Tolerance Induction Performed With rFVIIIFc Within a Timeframe of 60 Weeks in Severe Haemophilia A Patients With Inhibitors Who Have Failed Previous Immune Tolerance Induction Therapies Completed NCT03103542 Phase 4
12 Efficacy and Cost Effectiveness of Standard Versus Pharmacokinetic Dosing During Factor VIII Prophylaxis in Adult Patients With Severe Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
13 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH MOROCTOCOG ALFA (AF-CC) PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATE AND SEVERE HEMOPHILIA A FOR A DURATION OF 8 WEEKS Completed NCT04396639 Phase 4
14 Whole Blood Clot Stability and Thrombin Generating Capacity Following Treatment With Bypassing Agents (BPA) With and Without and Tranexamic Acid (TXA) in Haemophilia A Patients With inhibitor-an In-vivo Prospective Crossover Study Completed NCT01800435 Phase 4 aPCC, aPCC + TXA;rFVIIa, rFVIIa + TXA
15 Safety of Turoctocog Alfa for Prophylaxis and Treatment of Bleeding Episodes in Previously Treated Patients With Moderate or Severe Haemophilia A in India Completed NCT03449342 Phase 4 turoctocog alfa
16 Routine Prophylaxis Treatment Versus On-demand Treatment for Children With Severe Hemophilia A: Comparison of All Bleeding Events in Chinese Hemophilia Patients Completed NCT01810666 Phase 4
17 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
18 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
19 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
20 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
21 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
22 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
23 Antihemophilic Factor (Recombinant) Plasma/Albumin-Free Method (rAHF PFM): A Phase 3/4, Prospective, Controlled, Randomized, Multi-Center Study to Compare the Efficacy and Safety of Continuous Infusion (CI) Versus Intermittent Bolus Infusion (BI) in Subjects With Severe or Moderately Severe Hemophilia A Undergoing Major Orthopedic Surgery Completed NCT00357656 Phase 4 Recombinant Protein-Free Factor VIII (rAHF-PFM);Recombinant Protein-Free Factor VIII (rAHF-PFM)
24 A Phase IV Study of the Safety and Efficacy of ReFacto® (Moroctocog Alfa, B-Domain Deleted Recombinant Factor VIII) in Subjects With Hemophilia A Undergoing Major Surgery Monitored Using the Chromogenic Substrate Assay at the Local Laboratory Completed NCT00092976 Phase 4 ReFacto
25 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin-Free Method (ADVATE rAHF-PFM): A Phase 4 Study to Determine the Pharmacokinetic Response of Patients Diagnosed With Severe Hemophilia A to Different Doses of ADVATE rAHF-PFM Completed NCT00289536 Phase 4
26 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
27 Combination Therapy of Low Doses of rFVIIa and FEIBA for Severe Hemophilia A Patients With an Inhibitor to Factor VIII Completed NCT00284193 Phase 4 rFVIIa-FEIBA therapy for hemophilia A inhibitors;FEIBA- Activated Prothrombin Complexes
28 Advate Antihemophilic Factor (Recombinant), Plasma/Albumin Free Method (ADVATE rAHF-PFM): A Phase 4 Study Comparing Two Prophylactic Regimens in Subjects With Severe or Moderately Severe Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free;Antihemophilic factor, recombinant, manufactured protein-free
29 An Open-label, Single-arm, Post- Authorization Pragmatic Clinical Trial On The Safety And Efficacy Of Xyntha (Moroctocog-alfa (Af-cc), Recombinant Fviii) In Subjects With Hemophilia A In Usual Care Settings In China Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
30 A Non-controlled, Open-Label, Multicenter, Study of Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Subjects With Inhibitors Undergoing the First ITI Treatment Completed NCT03093480 Phase 4
31 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
32 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
33 Pharmacokinetic Comparison of 3000 IU Advate (rAHF-PFM) (Using One 3000 IU Potency Vial) With 3000 IU Advate (rAHF PFM) (Using Two 1500 IU Potency Vials) in Previously Treated Patients With Severe Hemophilia A: a Phase 4, Open-label, Prospective, Randomized, Controlled, Crossover, Multiple Center Study Completed NCT00916032 Phase 4
34 A Prospective Study to Evaluate the Effect of rFVIII-FS in Different Prophylactic Regimens on Bleeding Events Frequency and Development of Arthropathy in Previously Treated and Minimally Treated Hemophilia A Pediatric Population. Completed NCT00632814 Phase 4 rFVIII-FS (Kogenate FS, BAY14-2222) 70 IU/kg, dosing once per week;rFVIII-FS (Kogenate FS, BAY14-2222), 70 IU/kg twice per week (30 IU/kg + 40 IU/kg);rFVIII-FS (Kogenate FS, BAY14-2222) 75 IU/kg, dosing three times per week (3 x 25 IU/kg)
35 Exercise Versus DDAVP in Patients With Mild Hemophilia A - is One Non-inferior to the Other and do They Work Additively in Improving Hemostasis? Completed NCT03379974 Phase 4 DDAVP Inhalant Product
36 A Diagnostic Interventional, Controlled, Cross-sectional Evaluation of Joint Status Using Magnetic Resonance Imaging in Subjects With Severe Hemophilia A Treated With Primary Prophylaxis, Secondary Prophylaxis, or On-demand Therapy Completed NCT00927667 Phase 4
37 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A: a Phase IV, Prospective, Randomized, Controlled, Cross-over, Single Center Study Completed NCT00666406 Phase 4 Antihemophilic Factor (Recombinant) - Plasma/Albumin Free Method (rAHF-PFM);Recombinant Factor VIII (rAHF)
38 A Non-randomized, Open-label Study To Evaluate The Pharmacokinetics, Safety And Efficacy Of Refacto Af In Previously Treated Pediatric Subjects Less Than Twelve Years Of Age With Severe Hemophilia A (Fviii:c <1%). Completed NCT00914459 Phase 4
39 Inhibitor Development in Previously Untreated Patients (PUPs) or Minimally Blood Component-Treated Patients (MBCTPs) When Exposed to Plasma-derived Von Willebrand Factor-Containing Factor VIII (VWF/FVIII) Concentrates and to Recombinant Factor VIII (rFVIII) Concentrates: An Independent, International, Multicentre, Prospective, Controlled, Randomised, Open Label, Clinical Trial Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
40 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
41 A Multiclinic, Open Pilot Study to Investigate the Effect of Combination Antiretroviral Therapy Including Indinavir Sulfate on Coagulation Factors, on Platelet Aggregation, and on Factor VIII/IX Half-Life in HIV-1 Seropositive Patients With Hemophilia A or B Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
42 A Prospective Controlled Study on the Effect on Bleeding Events and Joint Function in Young Adults With Severe Hemophilia A After a 6 Month Prophylaxis Treatment Compared to on Demand Treatment Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
43 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex (Humate-P®) Using Individualized Dosing in Pediatric and Adult Surgical Subjects With Von Willebrand's Disease. Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
44 A Study on PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin) in Iranian Hemophilic Patients With Chronic Hepatitis C Infection Completed NCT00707772 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin);PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
45 An Open Label Study to Evaluate the Safety and Effect on Sustained Virological Response of PEGASYS Plus Ribavirin in Patients With Hemophilia A and Chronic Hepatitis C Completed NCT00475072 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin
46 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Recruiting NCT03915080 Phase 4 Oktokog alpha
47 A Multicenter, Open, Extension Trial to Evaluate Safety and Efficacy of Recombinant Human Coagulation Factor VIII (SCT800) During Long Term Treatment in Previously Treated Patients With Severe Haemophilia A . Recruiting NCT03947567 Phase 4 Recombinant Human Coagulation FVIII
48 A Single-center, Open-Label, Dose Escalation Study Evaluating the Safety of in Vivo Administration of FEIBA in Congenital Hemophilia A Patients With Inhibitors on Emicizumab Recruiting NCT04205175 Phase 4 Feiba
49 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 Recruiting NCT04108260 Phase 4 Albutrepenonacog Alfa 1 UNT [IDELVION]
50 A Post Approval Commitment Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of KOVALTRY in Chinese Children, Adolescents /Adults With Severe Hemophilia A Recruiting NCT04565236 Phase 4

Search NIH Clinical Center for Hemophilia

Inferred drug relations via UMLS 70 / NDF-RT 51 :


antihemophilic factor, human
Antihemophilic Factor, Human Recombinant
Antihemophilic factor, porcine
ANTIHEMOPHILIC FACTOR,HUMAN,METHOD M,MONOCLONAL
Factor VIII
nonacog alfa
recombinant FVIIa
Sources

Genetic Tests for Hemophilia

About this section

Genetic tests related to Hemophilia:

# Genetic test Affiliating Genes
1 Hemophilia 29
Sources

Anatomical Context for Hemophilia

About this section

MalaCards organs/tissues related to Hemophilia:

40
Liver, T Cells, Bone, Endothelial, Spleen, Whole Blood, Bone Marrow
Sources

Publications for Hemophilia

About this section

Articles related to Hemophilia:

(show top 50) (show all 12335)
# Title Authors PMID Year
1
Phase 4 Safety and Efficacy Study of Antihemophilic Factor (Recombinant) in Previously Treated Chinese Patients With Severe/Moderately Severe Hemophilia A. 61 42
33587652 2021
2
Morphological characteristics and clinical significance of the distal femur in patients with hemophilia-related knee arthritis. 61 42
33217800 2020
3
Epidemiological Challenges in Rare Bleeding Disorders: FVIII Inhibitor Incidence in Haemophilia A Patients-A Known Issue of Unknown Origin. 42
33396748 2020
4
An aberrant F8 intron 1 inversion with concomitant large duplication and deletion in a Chinese severe hemophilia A patient. 61
33382022 2021
5
A cost-effectiveness analysis of the prophylaxis versus on-demand regimens in severe hemophilia A patients under 12 years old in southern Iran. 61
33594948 2021
6
Diagnostic analysis of lupus anticoagulant using clot waveform analysis in activated partial thromboplastin time prolonged cases: A retrospective analysis. 61
33738342 2021
7
Novel treatments for hemophilia through rebalancing of the coagulation cascade. 61
33577709 2021
8
Perioperative Management of Hemophilia A Patients Undergoing Cardiac Surgery: A Literature Review of Published Cases. 61
32723585 2021
9
Real-world case series and summary of current literature of infants and toddlers with severe hemophilia A with inhibitor on prophylaxis with emicizumab. 61
33559300 2021
10
Safety, pharmacokinetics, and pharmacodynamics of a next-generation subcutaneously administered coagulation factor IX variant, dalcinonacog alfa, in previously treated hemophilia B patients. 61
33540485 2021
11
AIDS in the Heartland-Hemophilia Was the Harbinger of Things to Come. 61
33351526 2021
12
Current and Future Options of Haemophilia A Treatments. 61
33769892 2021
13
Delivery and neuraxial technique outcomes in patients with hemophilia and in hemophilia carriers: a systematic review. 61
33682038 2021
14
Prophylaxis in hemophilia: how much is enough? 61
33792679 2021
15
Making treatment decisions in hemophilia based on available safety data. 61
33792179 2021
16
A Preconditioning Strategy to Augment Retention and Engraftment Rate of Donor Cells During Hepatocyte Transplantation. 61
32976366 2021
17
Validation of the chromogenic Bethesda assay for factor VIII inhibitors in hemophilia a patients receiving Emicizumab. 61
33174329 2021
18
Overall hemostasis potential and aPTT-clot waveform analysis as powerful laboratory diagnostic tools for identification of hemophilia A patients with unexpected bleeding phenotype. 61
32964648 2021
19
Utilization of a novel Sendai virus vector in ex vivo gene therapy for hemophilia A. 61
33385293 2021
20
Use of recombinant activated factor VII for the treatment of perioperative bleeding in noncardiac surgery patients without hemophilia: A systematic review and meta-analysis of randomized controlled trials. 61
33385773 2021
21
Rurioctocog alfa pegol PK-guided prophylaxis in hemophilia A: results from the phase 3 PROPEL study. 61
33150384 2021
22
Von Willebrand disease type 2N: An update. 61
33497541 2021
23
Characterization of protein unable to bind von Willebrand factor in recombinant factor VIII products. 61
33527662 2021
24
Clinical, humanistic, and economic burden of severe hemophilia B in the United States: Results from the CHESS US and CHESS US+ population surveys. 61
33743752 2021
25
Platelet-targeted hyperfunctional FIX gene therapy for hemophilia B mice even with preexisting anti-FIX immunity. 61
33646304 2021
26
Spontaneous compartment syndrome in a patient with hemophilia B. 61
33768512 2021
27
CRISPR/Cas9-mediated knockin of human factor IX into swine factor IX locus effectively alleviates bleeding in hemophilia B pigs. 61
31974191 2021
28
Treatment of a hemophilia B mouse model with platelet-targeted expression of factor IX Padua. 61
33764159 2021
29
Hemostatic Management in an Infant With Neuroblastoma and Severe Hemophilia B With Extended Half-life Recombinant Factor IX Fusion Protein. 61
33661164 2021
30
Activated Prothrombin Complex Concentrate-Induced Atypical Hemolytic Uremic Syndrome Treated with Eculizumab. 61
33678802 2021
31
Mortality, life expectancy, and causes of death of persons with hemophilia in the Netherlands 2001-2018. 61
33217158 2021
32
De novo acquired hemophilia as an immune dysregulation phenomenon following SARS-CoV-2 infection. 61
33368293 2021
33
Long-Term Antithrombotic Treatments Prescribed for Cardiovascular Diseases in Patients with Hemophilia: Results from the French Registry. 61
33099283 2021
34
Heterogeneity in Bleeding Tendency and Arthropathy Development in Individuals with Hemophilia. 61
33636749 2021
35
Understanding Early Hemophilic Arthropathy in Children and Adolescents Through MRI T2 Mapping. 61
33135834 2021
36
Manual therapy reduces the frequency of clinical hemarthrosis and improves range of motion and perceived disability in patients with hemophilic elbow arthropathy. A randomized, single-blind, clinical trial. 61
33684015 2021
37
The effects of manual therapy on musculoskeletal system, functional level, joint health and kinesiophobia in young adults with severe haemophilia: A randomized pilot study. 61
33423376 2021
38
Functional and joint evaluation in a prospective cohort of patients with severe haemophilia. 61
33550664 2021
39
Recent advances in surgery and its perioperative treatment in people with hemophilia. 61
33605827 2021
40
Assessing Plasmin Generation in Health and Disease. 61
33803235 2021
41
Genetic analysis of carrier status in female members of Japanese hemophilia families. 61
33760382 2021
42
Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing. 61
33807613 2021
43
The Art and Science of Building a Computational Model to Understand Hemostasis. 61
33657623 2021
44
Serpins, New Therapeutic Targets for Hemophilia. 61
32987444 2021
45
Post-authorization pharmacovigilance for hemophilia in Europe and the USA: Independence and transparency are keys. 61
33810898 2021
46
Maternal and neonatal bleeding complications in relation to peripartum management in hemophilia carriers: A systematic review. 61
33775466 2021
47
Development and testing of the Satisfaction Questionnaire with Intravenous or Subcutaneous Hemophilia Injection and results from the Phase 3 HAVEN 3 study of emicizumab prophylaxis in persons with haemophilia A without FVIII inhibitors. 61
33506955 2021
48
Hemophilia Gene Therapy: Approaching the First Licensed Product. 61
33604517 2021
49
Pain management in hemophilia: expert recommendations. 61
33661391 2021
50
Potential Clues to the Pathogenesis of Acquired Hemophilia. 61
33647996 2021
Sources

Variations for Hemophilia

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Copy number variations for Hemophilia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 259589 X 138440560 138473283 Deletion F9 Haemophilia
2 261006 X 153717257 153904192 Loss F8 Haemophilia
Sources

Expression for Hemophilia

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Search GEO for disease gene expression data for Hemophilia.
Sources

Pathways for Hemophilia

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Pathways related to Hemophilia according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610
2 ECM-receptor interaction hsa04512
3 Hematopoietic cell lineage hsa04640

Pathways related to Hemophilia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 12.7 TFPI F9 F8 F7
2
Collagen chain trimerization 65
Show member pathways
 12.29 TFPI F9 F8 F7
3
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.46 TFPI F9 F8 F7
4
Complement and coagulation cascades 36 1
11.09 TFPI F9 F8 F7
5
Warfarin Pathway, Pharmacodynamics 60
10.33 F9 F7
Sources

GO Terms for Hemophilia

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

# Name GO ID Score Top Affiliating Genes
1 Golgi lumen GO:0005796 8.96 F9 F7
2 endoplasmic reticulum lumen GO:0005788 8.8 F9 F8 F7

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

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.5 F9 F8 F7
2 blood coagulation, intrinsic pathway GO:0007597 9.26 F9 F8
3 blood coagulation GO:0007596 9.26 TFPI F9 F8 F7
4 blood coagulation, extrinsic pathway GO:0007598 9.16 TFPI F7
5 hemostasis GO:0007599 8.92 TFPI F9 F8 F7

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

# Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.62 F9 F7
Sources

Sources for Hemophilia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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