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MCID: HMP007
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Hemophilia

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases
Genes 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 76 53 25 37 29 43 3 63 63
Hemophilia, Hereditary 25
Hemophilia, Familial 25
Hemophilia, Nos 73
Hemophilia a 73

Classifications:

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


External Ids:

KEGG 37 H00219
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Summaries for Hemophilia

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MedlinePlus : 43 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 Bevacizumab and Thrombin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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.

NIH Rare Diseases : 53 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 People with HemophiliaWomenHealthcare ProvidersPartners

PubMed Health : 63 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 : 76 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 344)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia 33.9 F3 F8 F9
2 acquired hemophilia a 33.8 F3 F8 F9
3 hemophilia a 33.7 F3 F7 F8 F9 VWF
4 hemophilia b 33.7 F2 F3 F7 F8 F9
5 factor xi deficiency 32.5 F2 F3 F9
6 von willebrand's disease 32.5 F2 F3 F8 F9 VWF
7 factor viii deficiency 32.3 F2 F8 LMAN1 MCFD2 VWF
8 von willebrand disease, type 3 32.0 F3 F8 VWF
9 hemarthrosis 31.9 F7 F8 F9 VWF
10 von willebrand disease, type 2 31.7 F3 F7 F8 VWF
11 thrombophilia 31.5 F2 F3 F8 F9 VWF
12 factor v and factor viii, combined deficiency of, 2 31.5 F8 LMAN1 MCFD2
13 von willebrand disease, type 1 31.2 F2 F3 F8 VWF
14 thrombosis 31.1 F2 F3 F7 F8 F9 TFPI
15 compartment syndrome 29.9 F2 F8
16 factor xii deficiency 29.9 F3 F9
17 purpura 29.8 F2 F3 VWF
18 cardiac tamponade 29.8 F2 F8 F9
19 factor vii deficiency 29.7 F2 F3 F7 F8 F9
20 thrombasthenia 29.6 F2 F3
21 femoral neuropathy 29.5 F2 F3
22 thrombophilia due to thrombin defect 29.5 F2 F3 F8 VWF
23 thrombotic thrombocytopenic purpura 29.5 F3 VWF
24 varicose veins 29.4 F2 VWF
25 myocardial infarction 29.4 F2 F3 F7 F8 VWF
26 portal vein thrombosis 29.4 F2 F7
27 afibrinogenemia 29.4 F2 F3 F8 VWF
28 pulmonary embolism 29.4 F2 F3 F9 VWF
29 disseminated intravascular coagulation 29.3 F2 F3 F7 F9
30 afibrinogenemia, congenital 29.3 F2 F3 VWF
31 essential thrombocythemia 29.3 F2 F3 VWF
32 hemorrhagic disease 29.3 F2 F3 F7 F8 F9 VWF
33 heart disease 29.1 F2 F3 F7 F8 VWF
34 stroke, ischemic 29.0 F2 F3 F7 VWF
35 glanzmann thrombasthenia 29.0 F2 F3 F8 F9 VWF
36 factor x deficiency 28.6 F2 F3 F7 F9 TFPI VWF
37 factor v deficiency 28.1 F2 F3 F7 F8 F9 LMAN1
38 hemophilia a with vascular abnormality 12.1
39 factor v and factor viii, combined deficiency of, 1 11.1
40 hepatitis 10.4
41 hepatitis c 10.3
42 arthritis 10.2
43 arthropathy 10.2
44 hepatitis c virus 10.2
45 factor xiii deficiency 10.2 F3 F8
46 fainting 10.2 F8 VWF
47 cerebral arteritis 10.2 F8 VWF
48 grange syndrome 10.1 F3 VWF
49 intermediate coronary syndrome 10.1 F3 VWF
50 hemorrhagic fever 10.1 F2 F3

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:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.68 TFPI
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.68 TFPI
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.68 F2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.68 F2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.68 F2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.68 F2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.68 F9
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.68 F2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.68 F9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.68 TFPI
11 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.68 F2 F9 TFPI
12 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.68 TFPI
13 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.68 F9
14 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.68 TFPI
15 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.68 F9
16 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.68 F9
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 F2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.68 F9
19 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.68 TFPI
20 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.68 F9
21 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.68 F9

MGI Mouse Phenotypes related to Hemophilia:

46
# 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: 63

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 218)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 4 216974-75-3
2
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
3
Tranexamic Acid Approved Phase 4,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 tannic acid Approved Phase 4,Phase 3,Phase 1
7
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 94-09-7, 1994-09-7 2337
8
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
9
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 30516-87-1 35370
10
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
11
Indinavir Approved Phase 4,Phase 3,Phase 2,Not Applicable 150378-17-9 5362440
12
Zalcitabine Approved, Investigational Phase 4,Phase 3,Phase 2 7481-89-2 24066
13
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
14
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
15
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
16
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
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
Phytonadione Approved, Investigational Phase 4,Phase 3 84-80-0 4812 5284607
21
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
22
Apixaban Approved Phase 4 503612-47-3 10182969
23
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
24
Dalteparin Approved Phase 4,Phase 3 9005-49-6
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 11103-57-4, 68-26-8 445354
28 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
30 Angiogenesis Modulating Agents Phase 4
31 Angiogenesis Inhibitors Phase 4
32 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Feiba Phase 4,Phase 2,Phase 3,Not Applicable
34 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
35 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
36 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
37 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Antifungal Agents Phase 4,Phase 3
44 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Not Applicable
45 Anticoagulants Phase 4,Phase 3,Phase 2,Phase 1
46 Antibodies, Bispecific Phase 4,Phase 3,Phase 1
47 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 633)
# 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 Intra-articular Bevacizumab for Recurrent Hemarthroses at Target Joints With Chronic Hemophilic Synovitis Unknown status NCT02060305 Phase 4 Bevacizumab intra-articular injection
4 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
5 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
6 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
7 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
8 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
9 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
10 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
11 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)
12 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
13 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
14 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
15 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
16 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
17 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
18 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)
19 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
20 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
21 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
22 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
23 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
24 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)
25 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
26 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
27 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
28 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
29 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
30 China ADVATE PTP Study Completed NCT02170402 Phase 4
31 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
32 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
33 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
34 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
35 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
36 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)
37 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
38 The Assessment of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
39 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
40 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
41 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
42 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
43 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
44 Study of Emicizumab Prophylaxis in Participants With Hemophilia A and Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
45 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
46 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
47 Pharmacokinetic (PK)Research on Chinese Children of Hemophilia Recruiting NCT03622476 Phase 4 concentrated FVIII
48 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
49 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
50 RIXUBIS PMS India (RIXUBIS PMS) Recruiting NCT03565237 Phase 4

Search NIH Clinical Center for Hemophilia

Inferred drug relations via UMLS 73 / NDF-RT 51 :
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:

41
Brain, Testes, Liver, Bone, Heart, Lung, T Cells
Sources

Publications for Hemophilia

About this section

Articles related to Hemophilia:

(show top 50) (show all 2853)
# Title Authors Year
1
Study Break: Recent Advances in Hemophilia Gene Therapy ( 30447061 )
2019
2
Common themes and challenges in hemophilia care: a multinational perspective. ( 30073913 )
2019
3
Pharmacokinetic-based prediction of real-life dosing of extended half-life clotting factor concentrates on hemophilia. ( 29899890 )
2018
4
Gene therapies for hemophilia hit the mark in clinical trials. ( 29414930 )
2018
5
Arruda VR, Doshi BS, Samelson-Jones BJ. Novel approaches to hemophilia therapy: successes and challenges. <i>Blood</i>. 2017;130(21):2251-2256. ( 29954823 )
2018
6
Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the<i>F8</i>gene. ( 29386375 )
2018
7
Hemophilia Burden of Disease: A Systematic Review of the Cost-Utility Literature for Hemophilia. ( 29952709 )
2018
8
Complete correction of hemophilia B phenotype by FIX-Padua skeletal muscle gene therapy in an inhibitor-prone dog model. ( 29500218 )
2018
9
Treatment Regimens with Bypassing Agents in Patients with Hemophilia A and Inhibitors: A Survey from the Italian Association of Hemophilia Centers (AICE). ( 29723892 )
2018
10
Modified Primary Prophylaxis in Previously Untreated Patients With Severe Hemophilia A in Iran. ( 29356759 )
2018
11
Successful endoscopic sphincterotomy for choledocholithiasis in a patient with severe hemophilia A and inhibitors. ( 29396835 )
2018
12
Replacement therapy for coronary artery bypass surgery in patients with hemophilia A and B. ( 29439283 )
2018
13
Novel therapies and current clinical progress in hemophilia A. ( 29387330 )
2018
14
Cost analysis of plasma-derived factor VIII/von Willebrand factor versus recombinant factor VIII for treatment of previously untreated patients with severe hemophilia A in the United States. ( 29681200 )
2018
15
Current characteristics of hemophilia patients co-infected with HIV/HCV in Japan. ( 29434818 )
2018
16
Hemophilia Gene Therapies Show Promise. ( 29450507 )
2018
17
Inhibitor Formation in Congenital Hemophilia A: an Immunological Perspective. ( 29864775 )
2018
18
Assessment of Relative Bioavailability of Moroctocog Alfa and Moroctocog Alfa (AF-CC) in Subjects With Severe Hemophilia A. ( 29575770 )
2018
19
Dexamethasone promotes durable factor VIII -specific tolerance in hemophilia A mice via thymic mechanisms. ( 29674503 )
2018
20
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. ( 29388273 )
2018
21
Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A. ( 29025913 )
2018
22
A Case of Acquired Hemophilia A: Usefulness of Various Methods for Judging Mixing Test Results for Monitoring the Effect of Immunosuppressive Therapy. ( 29739073 )
2018
23
Genetic Risk Factors and Inhibitor Development in Hemophilia: What Is Known and Searching for the Unknown. ( 29940657 )
2018
24
Successful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A. ( 29589344 )
2018
25
Real-World Analysis of Dispensed IUs of Coagulation Factor IX and Resultant Expenditures in Hemophilia B Patients Receiving Standard Half-life Versus Extended Half-life Products and Those Switching from Standard Half-life to Extended Half-life Products. ( 29363389 )
2018
26
The rare coexistence of high titer inhibitor development and gastrointestinal stromal tumor in a patient with severe hemophilia: A case report. ( 29724628 )
2018
27
Risk of major comorbidities among workers with hemophilia: A 14-year population-based study. ( 29419677 )
2018
28
The Development of Acute Systemic Multiple Thrombosis after Achieving Remission during Systemic Glucocorticoid Therapy for Acquired Hemophilia A. ( 29526954 )
2018
29
Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report. ( 29383626 )
2018
30
Designer nuclease-mediated gene correction via homology-directed repair in an in vitro model of canine hemophilia B. ( 29608237 )
2018
31
Impact of hemophilia B on quality of life in affected men, women, and caregivers-Assessment of patient-reported outcomes in the B-HERO-S study. ( 29505680 )
2018
32
Practical Implications of Factor IX Gene Transfer for Individuals with Hemophilia B: A Clinical Perspective. ( 29624465 )
2018
33
Autologous and Heterologous Cell Therapy for Hemophilia B toward Functional Restoration of Factor IX. ( 29719266 )
2018
34
Can the plasmaderived factor VIII still play a role in the treatment of acquired hemophilia A at the time of new drugs? ( 29608457 )
2018
35
Application of the ISTH bleeding score in hemophilia. ( 29921547 )
2018
36
Desmopressin in moderate hemophilia A patients: a treatment worth considering. ( 29305412 )
2018
37
Pharmacokinetic Studies of Factor VIII in Chinese Boys with Severe Hemophilia A: A Single-Center Study. ( 29848837 )
2018
38
Homeopathic Medicine Reduces Pain and Hemarthrosis in Moderate and Severe Hemophilia: A Multicentric Study. ( 29807367 )
2018
39
An Evaluation of Hemostatic Abnormalities in Patients With Hemophilia According to the Activated Partial Thromboplastin Time Waveform. ( 29439640 )
2018
40
WhatA's new in Gene Therapy of Hemophilia ( 29446741 )
2018
41
Bypassing Agents for Bleeding Prophylaxis in Hemophilia B: A Clinical Conundrum? ( 29746288 )
2018
42
Shifting Landscape of Hemophilia Therapy: Implications for Current Clinical Laboratory Coagulation Assays. ( 29884997 )
2018
43
Prophylactic versus on-demand treatments for hemophilia: advantages and drawbacks. ( 29886751 )
2018
44
The evolving understanding of factor VIII binding sites and implications for the treatment of hemophilia A. ( 29866493 )
2018
45
Successful management of concurrent acquired hemophilia A and a lupus anticoagulant in a pediatric hematopoietic stem cell transplant patient. ( 29330401 )
2018
46
Hemlibra's Remarkable Efficacy A Beacon For Hemophilia Patients. ( 29451467 )
2018
47
Inhibitor Risk Stratification and Individualized Treatment in Patients With Nonsevere Hemophilia A: A Single-Institution Practice Audit. ( 29108420 )
2018
48
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. ( 29357978 )
2018
49
Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature. ( 29780157 )
2018
50
Recombinant factor VIII: past, present and future of treatment of hemophilia A. ( 29869648 )
2018
Sources

Variations for Hemophilia

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Expression for Hemophilia

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Search GEO for disease gene expression data for Hemophilia.
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Pathways for Hemophilia

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Pathways related to Hemophilia according to KEGG:

37
# 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 66
Show member pathways
 13.34 F2 F7 F8 F9 LMAN1 MCFD2
2
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 12.88 F2 F3 F7 F8 F9 TFPI
3
Collagen chain trimerization 66
Show member pathways
 12.35 F2 F3 F7 F8 F9 TFPI
4
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.7 F2 F3 F7 F8 F9 TFPI
5
Gamma carboxylation, hypusine formation and arylsulfatase activation 66
Show member pathways
 11.58 F2 F7 F9
6
Complement and coagulation cascades 1 37
11.37 F2 F3 F7 F8 F9 LMAN1
7
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 61
11.16 F2 VWF
8
Syndecan-4-mediated signaling events 1
10.9 F2 TFPI
9
Warfarin Pathway, Pharmacodynamics 61
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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