MCID: HMP007
MIFTS: 51

Hemophilia

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hemophilia

MalaCards integrated aliases for Hemophilia:

Name: Hemophilia 74 52 25 58 36 29 42 3 62 62
Hemophilia, Hereditary 25
Hemophilia, Familial 25
Hemophilia, Nos 71
Hemophilia a 71
Haemophilia 25

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

KEGG 36 H00219
UMLS via Orphanet 72 C0684275
Orphanet 58 ORPHA448
UMLS 71 C0019069 C0684275

Summaries for Hemophilia

Genetics Home Reference : 25 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 acquired hemophilia and acquired hemophilia a, and has symptoms including edema, chest pain and angina pectoris. 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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain.

NIH Rare Diseases : 52 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 : 74 Haemophilia is a mostly inherited genetic disorder that impairs the body's ability to make blood clots,... more...

Related Diseases for Hemophilia

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 818)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia 34.4 F9 F8
2 acquired hemophilia a 34.3 F9 F8
3 hemophilia b 34.2 F9 F8 F7
4 von willebrand's disease 33.0 F9 F8 F7
5 factor viii deficiency 32.8 LOC106146150 F9 F8 F7
6 factor xi deficiency 32.6 F9 F8 F7
7 hemophilia a 32.3 LOC106146152 LOC106146150 LOC106146144 LOC106146143 F9 F8
8 hemarthrosis 32.2 F9 F8 F7
9 compartment syndrome 30.5 F8 F7
10 hemorrhagic disease 30.4 F9 F8 F7
11 factor vii deficiency 30.2 F9 F8 F7
12 pulmonary embolism 30.0 F9 F8
13 factor v deficiency 29.9 F9 F8 F7
14 blood coagulation disease 29.9 F9 F8 F7
15 thrombophilia 29.9 F9 F8 F7
16 thrombophlebitis 29.8 F8 F7
17 thrombophilia due to activated protein c resistance 29.7 F9 F8
18 glanzmann thrombasthenia 29.7 F9 F8 F7
19 cardiac tamponade 29.6 F9 F8 F7
20 vitamin k deficiency bleeding 29.6 F9 F8 F7
21 acquired von willebrand syndrome 29.5 F9 F8 F7
22 afibrinogenemia, congenital 29.5 F8 F7
23 factor x deficiency 29.5 F9 F7
24 prothrombin deficiency 29.3 F9 F8 F7
25 disseminated intravascular coagulation 29.3 TFPI F9 F7
26 x-linked recessive disease 29.3 F9 F8
27 thrombosis 29.3 TFPI F9 F8 F7
28 blood platelet disease 29.2 F8 F7
29 carotid stenosis 28.8 TFPI F7
30 myocardial infarction 28.6 TFPI F9 F8 F7
31 hemophilia a with vascular abnormality 12.2
32 factor v and factor viii, combined deficiency of, 1 11.6
33 factor v and factor viii, combined deficiency of, 2 11.6
34 hepatitis c 11.5
35 von willebrand disease, type 1 11.5
36 von willebrand disease, type 3 11.5
37 von willebrand disease, type 2 11.5
38 arthropathy 10.8
39 hemophilic arthropathy 10.7
40 acquired immunodeficiency syndrome 10.7
41 human immunodeficiency virus type 1 10.6
42 immune deficiency disease 10.6
43 autoimmune disease 10.5
44 plica syndrome 10.5
45 synovitis 10.5
46 hepatitis c virus 10.5
47 hepatitis 10.4
48 rare hemorrhagic disorder 10.4
49 thrombocytopenia 10.4
50 liver disease 10.4

Graphical network of the top 20 diseases related to Hemophilia:



Diseases related to Hemophilia

Symptoms & Phenotypes for Hemophilia

UMLS symptoms related to Hemophilia:


edema, chest pain, angina pectoris

Drugs & Therapeutics for Hemophilia

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 226)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
3
Zidovudine Approved Phase 4 30516-87-1 35370
4
Ribavirin Approved Phase 4 36791-04-5 37542
5
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
6
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
7
Didanosine Approved Phase 4 69655-05-6 50599
8
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
9
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
10
Indinavir Approved Phase 4 150378-17-9 5362440
11
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
12
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
13
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
14
rituximab Approved Phase 4 174722-31-7 10201696
15
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
16
Anti-inhibitor coagulant complex Approved, Investigational Phase 4
17 Antithrombins Phase 4
18 Antithrombin III Phase 4
19 Serine Proteinase Inhibitors Phase 4
20 Hirudins Phase 4
21 Deamino Arginine Vasopressin Phase 4
22 Antimetabolites Phase 4
23 Anti-HIV Agents Phase 4
24 Reverse Transcriptase Inhibitors Phase 4
25 Anti-Retroviral Agents Phase 4
26
protease inhibitors Phase 4
27 HIV Protease Inhibitors Phase 4
28 Vasopressins Phase 4
29 Arginine Vasopressin Phase 4
30 Hylan Phase 4
31 Triamcinolone diacetate Phase 4
32 triamcinolone acetonide Phase 4
33 Triamcinolone hexacetonide Phase 4
34 Interferon-alpha Phase 4
35 Vasoconstrictor Agents Phase 4
36 Immunoglobulins Phase 4
37 Antibodies Phase 4
38 Antineoplastic Agents, Immunological Phase 4
39 Immunologic Factors Phase 4
40 Hormones Phase 4
41 Antibodies, Monoclonal Phase 4
42 Antineoplastic Agents, Hormonal Phase 4
43 Hormone Antagonists Phase 4
44 glucocorticoids Phase 4
45 Vaccines Phase 4
46
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
47
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
48
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
49
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
50
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0

Interventional clinical trials:

(show top 50) (show all 680)
# Name Status NCT ID Phase Drugs
1 Hematology Oncology Center Unknown status NCT02999308 Phase 4
2 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)]
3 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
4 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
5 Single Centre,Randomized,Phase IV Study to Assess the Topical r-Hirudin (Thrombexx)Efficacy in the Patients With Haematomas Unknown status NCT01960569 Phase 4 active product ( Thrombexx) assigned to arm 1
6 rFVIIa (NovoSeven®) for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors: A Double-blind Study of a Single High Dose Versus Standard Multiple Doses of rFVIIa Completed NCT00571584 Phase 4 activated recombinant human factor VII
7 NovoSeven® (rFVIIa) by Single Dose for Home Treatment of Joint Bleeds in Haemophilia Patients With Inhibitors: A Pilot, Double-Blind Study Versus Standard Multiple Doses of NovoSeven® and Open-Label FEIBA® Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
8 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 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
10 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
11 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
12 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
13 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
14 Study to Evaluate Efficacy and Safety of ADVATE in the Treatment of Previously Treated Patients With Hemophilia A Completed NCT02170402 Phase 4
15 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)
16 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
17 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
18 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
19 Moderate Term Musculoskeletal Outcomes With Escalating Dose Prophylaxis: the Canadian Hemophilia Prophylaxis Study Follow-up Study Completed NCT01085344 Phase 4
20 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
21 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
22 AN OPEN-LABEL STUDY OF THE SAFETY AND EFFICACY OF REFACTO AF IN PREVIOUSLY UNTREATED PATIENTS IN USUAL CARE SETTINGS Completed NCT00950170 Phase 4
23 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
24 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)
25 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
26 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
27 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)
28 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
29 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
30 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
31 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
32 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
33 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
34 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
35 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)
36 Reformulated BeneFIX Efficacy and Safety After Conversion From a pdFIX Completed NCT00749476 Phase 4
37 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
38 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
39 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
40 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
41 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)
42 The Assessment of the Minimal Effective and Tolerated Dose of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
43 Effects of Desmopressin on Blood Loss and the Quality of the Surgical Field During Endoscopic Sinus Surgery Completed NCT02125188 Phase 4 Desmopressin;saline
44 1-deamino 8-d-arginine Vasopressin in Percutaneous Ultrasound-guided Renal Biopsy: a Randomized Controlled Trial Completed NCT00748072 Phase 4 DDAVP;saline solution
45 Recombinant Human Activated Factor VII as Salvage Therapy in Women With Severe Postpartum Hemorrhage Completed NCT00370877 Phase 4 rFVIIa
46 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
47 Optimizing the Use of Prophylaxis in Patients With Severe Haemophilia A Using PK Measurement (myPKFiT) Recruiting NCT03915080 Phase 4 Oktokog alpha
48 Capital Characteristic Application: Pharmacokinetic(PK) Research on Chinese Children of Hemophilia Recruiting NCT03622476 Phase 4 concentrated FVIII
49 A SINGLE COUNTRY, MULTICENTER, OPEN-LABEL AND NON-RANDOMIZED CLINICAL TRIAL WITH NONACOG ALFA PROPHYLAXIS AND TREATMENT OF BLEEDING EPISODES IN PREVIOUSLY TREATED PATIENTS WITH MODERATELY-SEVERE TO SEVERE HEMOPHILIA B FOR A DURATION OF 8 WEEKS. Recruiting NCT04286412 Phase 4
50 Post-marketing Investigation (PMI) to Assess Safety and Efficacy of Jivi (BAY 94-9027) Treatment in Participants With Hemophilia A Recruiting NCT04085458 Phase 4 Damoctocog alfa pegol (Jivi, BAY94-9027)

Search NIH Clinical Center for Hemophilia

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


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

Genetic Tests for Hemophilia

Genetic tests related to Hemophilia:

# Genetic test Affiliating Genes
1 Hemophilia 29

Anatomical Context for Hemophilia

MalaCards organs/tissues related to Hemophilia:

40
Liver, Testes, Brain, Bone, T Cells, Heart, Lung

Publications for Hemophilia

Articles related to Hemophilia:

(show top 50) (show all 11850)
# Title Authors PMID Year
1
Multiyear Follow-up of AAV5-hFVIII-SQ Gene Therapy for Hemophilia A. 42 61
31893514 2020
2
Treatment of the Dental Patient with Bleeding Dyscrasias: Etiologies and Management Options for Surgical Success in Practice. 42
32111278 2020
3
Factor VIII replacement is still the standard of care in haemophilia A. 42
31846611 2019
4
Economic burden of hemophilia A and B: a case in Iran. 61
32249720 2020
5
Sports participation and sports injuries in Dutch boys with haemophilia. 61
32246553 2020
6
Gynecological and obstetric outcome in the French cohort of women with factor XIII deficiency. 61
32360976 2020
7
Pulsed Nd:YAG laser: effects on pain, postural stability, and weight-bearing pattern in children with hemophilic ankle arthropathy. 61
31628558 2020
8
A case report and experience of endovascular treatment for a patient with hemophilia who had a hyperacute ischemic stroke. 61
32389557 2020
9
Safety and Effectiveness of Progressive Moderate-to-Vigorous Intensity Elastic Resistance Training on Physical Function and Pain in People With Hemophilia. 61
32525975 2020
10
The critical need for postmarketing surveillance in gene therapy for haemophilia. 61
32495492 2020
11
Unexpected, isolated activated partial thromboplastin time prolongation: A practical mini-review. 61
32049377 2020
12
A Blended Physiotherapy Intervention for Persons With Hemophilic Arthropathy: Development Study. 61
32558654 2020
13
Packing procedure effective for liver transplantation in hemophilic patients with HIV/HCV coinfection. 61
32572584 2020
14
A Novel Case of Recurrent Hemarthrosis Following Knee Arthroscopy in a Patient with Undiagnosed Hemophilia. 61
32548594 2020
15
Multislice spiral computed tomography imaging in evaluating hemophilic arthropathy. 61
32568879 2020
16
A Challenge for Hemophilia Treatment: Hemophilia and Cancer. 61
32569036 2020
17
Acquired bleeding disorders. 61
32476241 2020
18
HemoMIPs-Automated analysis and result reporting pipeline for targeted sequencing data. 61
32497118 2020
19
[Adenovirus-mediated Expression of B-domain-Deleted Human Coagulation Factor Ⅷ in ADSC of SD Rats]. 61
32552963 2020
20
Inherited coagulation disorders in Turkish children: A retrospective, single-center cohort study. 61
31980335 2020
21
Advances in managing rare acquired bleeding disorders. 61
32286895 2020
22
The availability of new drugs for hemophilia treatment. 61
32515633 2020
23
Prednisolone Does Not Regulate Factor VIII Expression in Mice Receiving AAV5-hFVIII-SQ: Valoctocogene Roxaparvovec. 61
31890737 2020
24
Identification of Key Coagulation Activity Determining Elements in Canine Factor VIII. 61
32071925 2020
25
Functional identification of factor VIII B domain regions in hepatocyte cells. 61
32248973 2020
26
Gene therapy for hemophilias: the end of phenotypic testing or the start of a new era? 61
32108681 2020
27
Timing of Intensive Immunosuppression Impacts Risk of Transgene Antibodies after AAV Gene Therapy in Nonhuman Primates. 61
32490034 2020
28
Site-Directed Mutagenesis Improves the Transduction Efficiency of Capsid Library-Derived Recombinant AAV Vectors. 61
32258217 2020
29
EPCR deficiency or function-blocking antibody protects against joint bleeding-induced pathology in hemophilia mice. 61
32294155 2020
30
Laboratory testing in hemophilia: Impact of factor and non-factor replacement therapy on coagulation assays. 61
32115865 2020
31
Medical expenditure for patients with hemophilia in urban China: data from medical insurance information system from 2013 to 2015. 61
32503636 2020
32
In vivo enrichment of genetically manipulated platelets for murine hemophilia B gene therapy. 61
32510630 2020
33
Development of an In Vitro Biopotency Assay for an AAV8 Hemophilia B Gene Therapy Vector Suitable for Clinical Product Release. 61
32280725 2020
34
Gut dysbiosis modulates the immune response to factor VIII in murine hemophilia A. 61
32556285 2020
35
COVID-19 and telemedicine in hemophilia in a patient with severe hemophilia A and orthopedic surgery. 61
32516482 2020
36
Treatment of Hemophilia A Using Factor VIII Messenger RNA Lipid Nanoparticles. 61
32330871 2020
37
Thromboprophylaxis in a patient with COVID-19 and severe hemophilia A on emicizumab prophylaxis. 61
32526092 2020
38
Defining the Optimal FVIII Transgene for Placental Cell-Based Gene Therapy to Treat Hemophilia A. 61
32258210 2020
39
Emicizumab Improves Ex Vivo Clotting Function in Patients with Mild/Moderate Hemophilia A. 61
32384547 2020
40
Successful bleeding control of refractory hemothorax in two hemophilia A patients with high-titer inhibitors. 61
32331973 2020
41
von Willebrand Factor and Factor VIII Clearance in Perioperative Hemophilia A Patients. 61
32480417 2020
42
Discrepant Hemophilia A: An Underdiagnosed Disease Entity. 61
32232366 2020
43
Postoperative hemorrhage secondary to acquired hemophilia A. 61
32452957 2020
44
Prophylaxis for hemophilia A without inhibitors: treatment options and considerations. 61
32573295 2020
45
Long-Term Follow-Up of the First in Human Intravascular Delivery of AAV for Gene Transfer: AAV2-hFIX16 for Severe Hemophilia B. 61
32559433 2020
46
An overview of development in gene therapeutics in China. 61
32528163 2020
47
Immune Response Mechanisms against AAV Vectors in Animal Models. 61
31970198 2020
48
Attenuation of Heparan Sulfate Proteoglycan Binding Enhances In Vivo Transduction of Human Primary Hepatocytes with AAV2. 61
32490035 2020
49
The socio-material self-care practices of children living with hemophilia or juvenile idiopathic arthritis in Denmark. 61
32422525 2020
50
Confronting COVID-19: Issues in Hemophilia and Congenital Bleeding Disorders. 61
32512586 2020

Variations for Hemophilia

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

Expression for Hemophilia

Search GEO for disease gene expression data for Hemophilia.

Pathways for Hemophilia

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

GO Terms for Hemophilia

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

# Name GO ID Score Top Affiliating Genes
1 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 for Hemophilia

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