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MCID: HMP007
MIFTS: 62

Hemophilia

Categories: Blood diseases, Genetic diseases, Immune 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 77 54 26 38 30 44 3 64 64
Hemophilia, Hereditary 26
Hemophilia, Familial 26
Hemophilia, Nos 74
Hemophilia a 74
Haemophilia 26

Classifications:

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


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KEGG 38 H00219
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Summaries for Hemophilia

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MedlinePlus : 44 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

MalaCards based summary : Hemophilia, also known as hemophilia, hereditary, is related to acquired hemophilia and acquired hemophilia a, and has symptoms including angina pectoris, edema and chest pain. 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 Anti-inhibitor coagulant complex and Thrombin have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 26 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.

NIH Rare Diseases : 54 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.

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.

PubMed Health : 64 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 : 77 Haemophilia is a mostly inherited genetic disorder that impairs the body''s ability to make blood clots,... more...

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Related Diseases for Hemophilia

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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 497)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia 34.0 F3 F8 F9
2 acquired hemophilia a 33.9 F3 F8 F9
3 hemophilia a 33.6 F3 F7 F8 F9 VWF
4 hemophilia b 33.4 F2 F3 F7 F8 F9
5 factor xi deficiency 32.5 F2 F3 F9
6 von willebrand's disease 32.3 F2 F3 F8 F9 VWF
7 von willebrand disease, type 3 32.1 F3 F8 VWF
8 factor viii deficiency 32.0 F2 F8 LMAN1 MCFD2 VWF
9 hemarthrosis 31.8 F7 F8 F9 VWF
10 von willebrand disease, type 2 31.7 F3 F7 F8 VWF
11 factor v and factor viii, combined deficiency of, 2 31.4 F8 LMAN1 MCFD2
12 thrombophilia 31.3 F2 F3 F8 F9 VWF
13 von willebrand disease, type 1 31.1 F2 F3 F8 VWF
14 thrombosis 30.6 F2 F3 F7 F8 F9 TFPI
15 compartment syndrome 30.3 F2 F8
16 factor xii deficiency 30.0 F3 F9
17 purpura 29.9 F2 F3 VWF
18 cardiac tamponade 29.7 F2 F8 F9
19 thrombophilia due to thrombin defect 29.7 F2 F3 F8 VWF
20 thrombasthenia 29.7 F2 F3
21 femoral neuropathy 29.6 F2 F3
22 thrombotic thrombocytopenic purpura 29.5 F3 VWF
23 factor vii deficiency 29.4 F2 F3 F7 F8 F9
24 varicose veins 29.4 F2 VWF
25 intracranial hypertension 29.4 F2 F3
26 portal vein thrombosis 29.4 F2 F7
27 myocardial infarction 29.3 F2 F3 F7 F8 VWF
28 vascular disease 29.3 F2 F3 VWF
29 disseminated intravascular coagulation 29.3 F2 F3 F7 F9
30 antiphospholipid syndrome 29.3 F2 F3 VWF
31 afibrinogenemia, congenital 29.2 F2 F3 VWF
32 prothrombin deficiency 29.2 F2 F3 F7
33 afibrinogenemia 29.2 F2 F3 F8 VWF
34 essential thrombocythemia 29.2 F2 F3 VWF
35 pulmonary embolism 29.2 F2 F3 F9 VWF
36 thrombocytosis 29.2 F2 F3
37 heart disease 29.0 F2 F3 F7 F8 VWF
38 hemorrhagic disease 28.8 F2 F3 F7 F8 F9 VWF
39 stroke, ischemic 28.8 F2 F3 F7 VWF
40 glanzmann thrombasthenia 28.7 F2 F3 F8 F9 VWF
41 factor x deficiency 28.2 F2 F3 F7 F9 TFPI VWF
42 factor v deficiency 27.2 F2 F3 F7 F8 F9 LMAN1
43 hemophilia a with vascular abnormality 12.1
44 factor v and factor viii, combined deficiency of, 1 11.2
45 hepatitis 10.6
46 hepatitis c 10.5
47 hepatitis c virus 10.3
48 arthritis 10.3
49 arthropathy 10.3
50 factor xiii deficiency 10.3 F3 F8

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, edema, chest pain

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

27 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.7 TFPI
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.7 TFPI
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 F2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.7 F2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.7 F2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.7 F2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.7 F9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.7 F2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.7 F9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 TFPI
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.7 F2 F9 TFPI
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.7 TFPI
13 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.7 F9
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.7 TFPI
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.7 F9
16 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.7 F9
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 F2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.7 F9
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.7 TFPI
20 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.7 F2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 F9
22 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.7 F9

MGI Mouse Phenotypes related to Hemophilia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 F2 F3 F7 F9 TFPI VWF
2 homeostasis/metabolism MP:0005376 9.61 F2 F3 F7 F8 F9 LMAN1
3 mortality/aging MP:0010768 9.23 F2 F3 F7 F8 F9 LMAN1
Sources

Drugs & Therapeutics for Hemophilia

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PubMedHealth treatment related to Hemophilia: 64

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 277)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anti-inhibitor coagulant complex Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
2
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
3
Tranexamic Acid Approved Phase 4,Phase 3,Not Applicable 1197-18-8 5526
4
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3 22916-47-8 4189
5
rituximab Approved Phase 4,Phase 3,Phase 2 174722-31-7 10201696
6
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 94-09-7, 1994-09-7 2337
7
tannic acid Approved Phase 4,Phase 3,Phase 1 1401-55-4
8
Indinavir Approved Phase 4,Phase 3,Phase 2,Not Applicable 150378-17-9 5362440
9
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
10
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 30516-87-1 35370
11
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
12
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
13
Zalcitabine Approved, Investigational Phase 4,Phase 3,Phase 2 7481-89-2 24066
14
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
15
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
16
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
17
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
18
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
19
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
20
Phylloquinone Approved, Investigational Phase 4,Phase 3 84-80-0
21
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
22
Dalteparin Approved Phase 4,Phase 3 9005-49-6
23
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
24
Apixaban Approved Phase 4 503612-47-3 10182969
25
Menadione Approved, Nutraceutical Phase 4,Phase 3 58-27-5 4055
26
Serine Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 56-45-1 5951
27
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
28 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
32 Antibodies Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
33 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
34 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
40 Antifungal Agents Phase 4,Phase 3
41 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1,Not Applicable
42 Antineoplastic Agents, Immunological Phase 4,Phase 3,Phase 2,Phase 1
43 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Not Applicable
44 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1
45 Antibodies, Bispecific Phase 4,Phase 3,Phase 1
46 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Antifibrinolytic Agents Phase 4,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 652)
# Name Status NCT ID Phase Drugs
1 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)]
2 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Unknown status NCT02999308 Phase 4
3 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
4 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
5 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
6 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
7 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
8 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
9 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
10 Phase 3/4 Study of a Recombinant Protein-Free Factor VIII (rAHF-PFM): Comparison of Continuous Infusion Versus Intermittent Bolus Infusion in Hemophilia A Subjects Undergoing Major Orthopedic Surgery Completed NCT00357656 Phase 4 Recombinant Protein-Free Factor VIII (rAHF-PFM);Recombinant Protein-Free Factor VIII (rAHF-PFM)
11 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
12 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
13 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
14 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
15 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
16 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
17 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A Completed NCT00666406 Phase 4 Antihemophilic Factor (Recombinant) - Plasma/Albumin Free Method (rAHF-PFM);Recombinant Factor VIII (rAHF)
18 Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00243386 Phase 4 Antihemophilic factor, recombinant, manufactured protein-free;Antihemophilic factor, recombinant, manufactured protein-free
19 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4 Indinavir sulfate;Lamivudine;Stavudine;Zidovudine;Zalcitabine;Didanosine
20 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4 activated recombinant human factor VII
21 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
22 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
23 Russian Kogenate Pediatric Study 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)
24 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
25 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
26 Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4 activated recombinant human factor VII;activated recombinant human factor VII;factor VIII
27 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4 aPCC, aPCC + TXA;rFVIIa, rFVIIa + TXA
28 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
29 China ADVATE PTP Study Completed NCT02170402 Phase 4
30 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
31 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
32 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
33 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
34 A Study of PEGASYS (Peginterferon Alfa-2a (40KD)) Plus Ribavirin in Hemophiliac Patients With Chronic Hepatitis C. Completed NCT00475072 Phase 4 peginterferon alfa-2a [Pegasys];ribavirin
35 Pegasys® Plus Ribavirin in Hemophilic Patients With Hepatitis C Virus Infection Completed NCT00707772 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin);PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
36 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD) Completed NCT00168090 Phase 4 Blood coagulation Factor VIII and vWF, human
37 The Assessment of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
38 Study to Reveal if Fibrinogen Treatment Effects Blood Clotting Better Than a Platelet Transfusion Completed NCT01955811 Phase 4 Administration of platelet concentrate and taking blood samples
39 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
40 A Study to Compare the Use of Fluconazole as Continuous Therapy Versus Periodic Therapy in HIV-Positive Patients With Recurrent Thrush Completed NCT00000951 Phase 4 Fluconazole
41 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
42 Safety/Efficacy Study to Assess Whether FVIII/VWF Concentrate Can Induce Immune Tolerance in Haemophilia A Patients Recruiting NCT02479087 Phase 4 Plasma-derived FVIII/VWF concentrate
43 Study of Emicizumab Prophylaxis in Participants With Hemophilia A and Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
44 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
45 Pharmacokinetic (PK)Research on Chinese Children of Hemophilia Recruiting NCT03622476 Phase 4 concentrated FVIII
46 A Study to Evaluate Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Participants With Inhibitors Undergoing the First ITI Treatment (verITI-8 Study) Recruiting NCT03093480 Phase 4
47 Low-dose ITI Strategy for Children in Hemophilia A With High-titer Inhibitor and Poor ITI Risk in China Recruiting NCT03598725 Phase 4 Coagulation Factor VIII;Prednisone;Rituximab
48 INdividualized ITI Based on Fviii(ATE) Protection by VWF Recruiting NCT03204539 Phase 4 Wilate
49 RIXUBIS PMS India (RIXUBIS PMS) Recruiting NCT03565237 Phase 4
50 Effectiveness of Booster With 1 or 2 Doses of HAV Vaccine Among HIV-infected Patients Recruiting NCT03855176 Phase 4 Vaqta Injectable Product

Search NIH Clinical Center for Hemophilia

Inferred drug relations via UMLS 74 / NDF-RT 52 :
Sources

Genetic Tests for Hemophilia

About this section

Genetic tests related to Hemophilia:

# Genetic test Affiliating Genes
1 Hemophilia 30
Sources

Anatomical Context for Hemophilia

About this section

MalaCards organs/tissues related to Hemophilia:

42
Brain, Liver, Testes, Bone, Heart, T Cells, Endothelial
Sources

Publications for Hemophilia

About this section

Articles related to Hemophilia:

(show top 50) (show all 4138)
# Title Authors Year
1
Acquired hemophilia A presenting as progressive intra-abdominal hemorrhage, muscle hemorrhage and hemothorax postpartum: A case report and literature review. ( 30651844 )
2019
2
Pregnancy-related acquired hemophilia A initially manifesting as pleural hemorrhage: A case report. ( 30653138 )
2019
3
Clinicopathological features of TAFRO syndrome complicated by acquired hemophilia A and development of cardiopulmonary arrest that were successfully treated with VA-ECMO and tocilizumab. ( 30680669 )
2019
4
Inhibitor eradication in refractory acquired hemophilia with lenalidomide. ( 30706086 )
2019
5
Acquired Hemophilia A: A Case Report. ( 30727803 )
2019
6
Compartment syndrome of the forearm with life-threatening bleeding after fasciotomy as the presenting sign of postpartum acquired hemophilia A: a case report. ( 30864964 )
2019
7
Acquired hemophilia A associated with bullous pemphigoid and multiple myeloma: a case report. ( 30882350 )
2019
8
Mode of delivery in hemophilia: Vaginal delivery and cesarean section carry similar risks for intracranial hemorrhages and major bleeds. ( 30792204 )
2019
9
Bilateral subthalmic nucleus deep brain stimulation with microelectrode recordings in the setting of mild inherited Hemophilia B: A case report. ( 30795708 )
2019
10
Comments to: An Evaluation of Hemostatic Abnormalities in Patients With Hemophilia by APTT Waveform, Peak Heights of APTT Waveform Are Useful for Diagnosing Hemophilia or Inhibitor. ( 30808219 )
2019
11
Pain Prevalence, Characteristics, and Impact Among People with Hemophilia: Findings from the First Portuguese Survey and Implications for Pain Management. ( 30812031 )
2019
12
Strategies for individualized dosing of clotting factor concentrates and desmopressin in hemophilia A and B. ( 30817699 )
2019
13
A new in silico approach to investigate molecular aspects of Factor IX (F9) missense causative mutations and their impact on the Hemophilia B severity. ( 30817849 )
2019
14
Ultrasonography of Knee Joint in Hemophilia A: What the Eyes Cannot See. ( 30828163 )
2019
15
Inhibitors among patients with hemophilia in Basra, Iraq - A single center experience. ( 30837433 )
2019
16
Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening. ( 30838796 )
2019
17
Reprogrammed CD4+ T Cells That Express FoxP3+ Control Inhibitory Antibody Formation in Hemophilia A Mice. ( 30842776 )
2019
18
Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter. ( 30846504 )
2019
19
External Jugular Vein Aneurysm in a Child With Hemophilia A. ( 30865127 )
2019
20
Atraumatic Spinal Epidural Hematoma as Initial Presentation of Hemophilia A in an Infant. ( 30870339 )
2019
21
Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A. ( 30872367 )
2019
22
Anesthesia management of arthroscopic ankle arthrodesis for a hemophilia patient after living-donor liver transplantation. ( 30881860 )
2019
23
Strategies for Individualized Dosing of Clotting Factor Concentrates and Desmopressin in Hemophilia A and B. ( 30883513 )
2019
24
Successful treatment of refractory pancreatic hemorrhage and pseudoaneurysm related to chronic pancreatitis in a patient with severe-type hemophilia A: A case report. ( 30887682 )
2019
25
Healthcare costs among patients with hemophilia A treated with factor replacement or bypassing agents. ( 30888200 )
2019
26
Inflammatory and immune response genes: A genetic analysis of inhibitor development in Iranian hemophilia A patients. ( 30888230 )
2019
27
Longitudinal validity of the hemophilia caregiver impact measure. ( 30903557 )
2019
28
Infected tooth extraction, bone grafting, immediate implant placement and immediate temporary crown insertion in a patient with severe type-B hemophilia. ( 30904898 )
2019
29
Molecular and serological characterization of occult hepatitis B virus infection among patients with hemophilia. ( 30908666 )
2019
30
Advances in the Treatment of Hemophilia: Implications for Laboratory Testing. ( 30282700 )
2019
31
Study Break: Recent Advances in Hemophilia Gene Therapy ( 30447061 )
2019
32
Clinical outcomes in hemophilia A patients undergoing tailoring of prophylaxis based on population-based pharmacokinetic dosing. ( 30496937 )
2019
33
Anti-factor VIII inhibitors against A2 and C2 domains in hemophilia A patients from India. ( 30502565 )
2019
34
Update on clinical gene therapy for hemophilia. ( 30559260 )
2019
35
Treatment of rare factor deficiencies other than hemophilia. ( 30559262 )
2019
36
New therapies using nonfactor products for patients with hemophilia and inhibitors. ( 30559263 )
2019
37
New therapies for hemophilia. ( 30559264 )
2019
38
Correction to: Inhibitor development, safety, and efficacy of Advate® in previously untreated patients with hemophilia A in a postmarketing surveillance in Japan. ( 30560315 )
2019
39
Inhibitor development, safety and efficacy of Advate® among previously treated patients with hemophilia A in a postmarketing surveillance in Japan. ( 30604312 )
2019
40
The impact of GPIbα on platelet-targeted FVIII gene therapy in hemophilia A mice with pre-existing anti-FVIII immunity. ( 30609275 )
2019
41
Emicizumab (ACE910): Clinical background and laboratory assessment of hemophilia A. ( 30612605 )
2019
42
A Novel Clinician-Orchestrated Virtual Reality Platform for Distraction During Pediatric Intravenous Procedures in Children With Hemophilia: Randomized Controlled Trial. ( 30626567 )
2019
43
Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia. ( 30626931 )
2019
44
Novel therapies for hemophilia A - the role of the von Willebrand factor chaperone. ( 30652400 )
2019
45
Extending recombinant factor IX Fc fusion protein dosing interval to 14 or more days in patients with hemophilia B. ( 30656283 )
2019
46
Potential long-term treatment of hemophilia A by neonatal co-transplantation of cord blood-derived endothelial colony-forming cells and placental mesenchymal stromal cells. ( 30670078 )
2019
47
Safety of recombinant coagulation factors in treating hemophilia. ( 30681006 )
2019
48
Upper-Body Exercises With External Resistance Are Well Tolerated and Enhance Muscle Activity in People With Hemophilia. ( 30690577 )
2019
49
Reduced bone formation in males and increased bone resorption in females drive bone loss in hemophilia A mice. ( 30700417 )
2019
50
Gene-based FVIIa prophylaxis modulates the spontaneous bleeding phenotype of hemophilia A rats. ( 30705032 )
2019
Sources

Variations for Hemophilia

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Copy number variations for Hemophilia from CNVD:

7
# CNVD ID Chromosom 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:

38
# 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
Metabolism of proteins 67
Show member pathways
 13.34 F2 F7 F8 F9 LMAN1 MCFD2
2
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 12.88 F2 F3 F7 F8 F9 TFPI
3
Collagen chain trimerization 67
Show member pathways
 12.35 F2 F3 F7 F8 F9 TFPI
4
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 11.7 F2 F3 F7 F8 F9 TFPI
5
Gamma carboxylation, hypusine formation and arylsulfatase activation 67
Show member pathways
 11.58 F2 F7 F9
6
Complement and coagulation cascades 38 1
11.37 F2 F3 F7 F8 F9 LMAN1
7
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 62
11.16 F2 VWF
8
Syndecan-4-mediated signaling events 1
10.9 F2 TFPI
9
Warfarin Pathway, Pharmacodynamics 62
10.67 F2 F7 F9
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 extracellular space GO:0005615 9.85 F2 F3 F7 F8 F9 TFPI
2 extracellular region GO:0005576 9.7 F2 F3 F7 F8 F9 TFPI
3 collagen-containing extracellular matrix GO:0062023 9.61 F3 LMAN1 VWF
4 endoplasmic reticulum lumen GO:0005788 9.56 F2 F7 F8 F9
5 Golgi lumen GO:0005796 9.5 F2 F7 F9
6 ER to Golgi transport vesicle membrane GO:0012507 9.46 LMAN1 MCFD2
7 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F8 LMAN1
8 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.13 F8 LMAN1 MCFD2
9 serine-type peptidase complex GO:1905286 8.62 F3 F7

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.63 F2 F7 F8 F9 LMAN1 MCFD2
2 platelet activation GO:0030168 9.61 F2 F8 VWF
3 COPII vesicle coating GO:0048208 9.58 F8 LMAN1 MCFD2
4 blood coagulation, intrinsic pathway GO:0007597 9.56 F2 F8 F9 VWF
5 blood coagulation GO:0007596 9.56 F2 F3 F7 F8 F9 LMAN1
6 protein processing GO:0016485 9.51 F3 F7
7 blood coagulation, extrinsic pathway GO:0007598 9.5 F3 F7 TFPI
8 acute-phase response GO:0006953 9.49 F2 F8
9 positive regulation of blood coagulation GO:0030194 9.48 F2 F7
10 positive regulation of positive chemotaxis GO:0050927 9.46 F3 F7
11 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.37 F3 F7
12 hemostasis GO:0007599 9.17 F2 F3 F7 F8 F9 TFPI

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.46 F2 F7 F9 MCFD2
2 serine-type peptidase activity GO:0008236 9.13 F2 F7 F9
3 serine-type endopeptidase activity GO:0004252 8.92 F2 F3 F7 F9
Sources

Sources for Hemophilia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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