Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Hemophilia

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


External Ids:

KEGG 37 H00219
UMLS 73 C0684275

Summaries for Hemophilia

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 mild hemophilia a and acquired hemophilia, and has symptoms including angina pectoris, chest pain and edema. An important gene associated with Hemophilia is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Complement and coagulation cascades and ECM-receptor interaction. The drugs Miconazole and Tranexamic Acid 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 Hemophilia is 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 : 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, also spelled hemophilia, is a mostly inherited genetic disorder that impairs the body\'s... more...

Related Diseases for Hemophilia

Diseases in the Hemophilia family:

Hemophilia a Hemophilia B
Acquired Hemophilia Acquired Hemophilia a
Severe Hemophilia a

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

(show top 50) (show all 299)
# Related Disease Score Top Affiliating Genes
1 mild hemophilia a 34.0 F8 VWF
2 acquired hemophilia 34.0 F3 F8 F9
3 acquired hemophilia a 33.9 F3 F8 F9
4 severe hemophilia a 33.0 F2 F3 F8
5 hemophilia a 32.6 F3 F7 F8 F9 VWF
6 von willebrand disease, type 3 32.6 F8 VWF
7 hemophilia b 32.4 F2 F3 F7 F8 F9
8 factor xi deficiency 32.2 F2 F3 F9
9 von willebrand disease, type 2 31.7 F7 F8 VWF
10 von willebrand's disease 31.3 F2 F3 F8 F9 VWF
11 hemarthrosis 31.2 F7 F8 F9 VWF
12 factor v and factor viii, combined deficiency of, 2 30.8 F8 LMAN1 MCFD2
13 von willebrand disease, type 1 30.4 F2 F3 F8 VWF
14 factor viii deficiency 30.3 F2 F8 LMAN1 MCFD2 VWF
15 thrombosis 30.2 F2 F3 F9 TFPI VWF
16 compartment syndrome 30.0 F2 F8
17 x-linked disease 29.8 F8 F9
18 femoral neuropathy 29.7 F2 F3
19 cardiac tamponade 29.6 F2 F8 F9
20 thrombotic thrombocytopenic purpura 29.5 F3 VWF
21 factor xii deficiency 29.4 F3 F9 VWF
22 thrombasthenia 29.4 F2 F3
23 thrombophilia 29.4 F2 F3 F7 F8 F9 VWF
24 purpura 29.4 F2 F3 VWF
25 pulmonary embolism 29.4 F2 F3 F9
26 ischemic heart disease 29.4 F2 F7
27 arteries, anomalies of 29.3 F2 F3 VWF
28 portal vein thrombosis 29.3 F2 F7
29 coronary artery anomaly 29.0 F3 F7 VWF
30 essential thrombocythemia 28.9 F2 F3 VWF
31 thrombophilia due to thrombin defect 28.8 F2 F3 F8 VWF
32 factor vii deficiency 28.5 F2 F3 F7 F8 F9
33 disseminated intravascular coagulation 28.5 F2 F3 F7 F9
34 afibrinogenemia, congenital 28.4 F2 F3 F8 VWF
35 afibrinogenemia 28.4 F2 F3 F8 VWF
36 stroke, ischemic 28.0 F2 F3 F7 VWF
37 heart disease 27.9 F2 F3 F7 VWF
38 myocardial infarction 27.9 F2 F3 F7 F8 VWF
39 glanzmann thrombasthenia 27.8 F2 F3 F8 F9 VWF
40 hemorrhagic disease 27.3 F2 F3 F7 F8 F9 VWF
41 factor x deficiency 26.7 F2 F3 F7 F9 TFPI VWF
42 factor v deficiency 24.0 F2 F3 F7 F8 F9 LMAN1
43 moderately severe hemophilia a 12.0
44 hemophilia a with vascular abnormality 11.9
45 symptomatic form of hemophilia a in female carriers 11.8
46 factor v and factor viii, combined deficiency of, 1 11.0
47 multicentric castleman disease 10.6 F3 F8
48 factor xiii deficiency 10.6 F3 F8
49 fainting 10.6 F8 VWF
50 cerebral arteritis 10.6 F8 VWF

Graphical network of the top 20 diseases related to Hemophilia:

Diseases related to Hemophilia

Symptoms & Phenotypes for Hemophilia

UMLS symptoms related to Hemophilia:

angina pectoris, chest pain, edema

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 TFPI F2 F9
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:

# 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 9.56 F2 F3 F7 F8 F9 LMAN1
3 mortality/aging MP:0010768 9.23 VWF F2 F3 F7 F8 F9

Drugs & Therapeutics for Hemophilia

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 209)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3 22916-47-8 4189
Tranexamic Acid Approved Phase 4,Not Applicable 1197-18-8 5526
Bevacizumab Approved, Investigational Phase 4 216974-75-3
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 30516-87-1 35370
Indinavir Approved Phase 4,Phase 3,Phase 2,Not Applicable 150378-17-9 5362440
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
Zalcitabine Approved, Investigational Phase 4,Phase 3,Phase 2 7481-89-2 24066
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
18 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
19 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Angiogenesis Inhibitors Phase 4
23 Angiogenesis Modulating Agents Phase 4
24 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
25 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Antifungal Agents Phase 4,Phase 3
27 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
32 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
33 Antibodies, Bispecific Phase 4,Phase 3,Phase 1
34 triamcinolone acetonide Phase 4
35 interferons Phase 4,Phase 3,Phase 2
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Adjuvants, Immunologic Phase 4,Not Applicable
38 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Natriuretic Agents Phase 4,Phase 2,Phase 1,Not Applicable
40 Steroid Synthesis Inhibitors Phase 4
41 Complement Factor I Phase 4
42 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 2
43 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
45 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1,Not Applicable
46 Hormone Antagonists Phase 4,Phase 3,Phase 2
47 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Triamcinolone diacetate Phase 4
49 Triamcinolone hexacetonide Phase 4
50 Hormones Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 603)
# 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 Intra-articular Bevacizumab for Recurrent Hemarthroses at Target Joints With Chronic Hemophilic Synovitis Unknown status NCT02060305 Phase 4 Bevacizumab intra-articular injection
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 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
14 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
15 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
16 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4 ReFacto;Advante
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 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Recruiting NCT03103542 Phase 4
47 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
48 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Recruiting NCT02999308 Phase 4
49 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
50 Research Study to Look at Side Effects During Regular Injection With Factor VIII Medicine Named Turoctocog Alfa for a 8 Weeks Period Recruiting NCT03449342 Phase 4 turoctocog alfa

Search NIH Clinical Center for Hemophilia

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

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:

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

Publications for Hemophilia

Articles related to Hemophilia:

(show top 50) (show all 2115)
# Title Authors Year
Pharmacokinetic-based prediction of real-life dosing of extended half-life clotting factor concentrates on hemophilia. ( 29899890 )
Gene therapies for hemophilia hit the mark in clinical trials. ( 29414930 )
Arruda VR, Doshi BS, Samelson-Jones BJ. Novel approaches to hemophilia therapy: successes and challenges. <i>Blood</i>. 2017;130(21):2251-2256. ( 29954823 )
Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the<i>F8</i>gene. ( 29386375 )
Hemophilia Burden of Disease: A Systematic Review of the Cost-Utility Literature for Hemophilia. ( 29952709 )
Complete correction of hemophilia B phenotype by FIX-Padua skeletal muscle gene therapy in an inhibitor-prone dog model. ( 29500218 )
Treatment Regimens with Bypassing Agents in Patients with Hemophilia A and Inhibitors: A Survey from the Italian Association of Hemophilia Centers (AICE). ( 29723892 )
Modified Primary Prophylaxis in Previously Untreated Patients With Severe Hemophilia A in Iran. ( 29356759 )
Successful endoscopic sphincterotomy for choledocholithiasis in a patient with severe hemophilia A and inhibitors. ( 29396835 )
Replacement therapy for coronary artery bypass surgery in patients with hemophilia A and B. ( 29439283 )
Novel therapies and current clinical progress in hemophilia A. ( 29387330 )
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 )
Current characteristics of hemophilia patients co-infected with HIV/HCV in Japan. ( 29434818 )
Hemophilia Gene Therapies Show Promise. ( 29450507 )
Inhibitor Formation in Congenital Hemophilia A: an Immunological Perspective. ( 29864775 )
Assessment of Relative Bioavailability of Moroctocog Alfa and Moroctocog Alfa (AF-CC) in Subjects With Severe Hemophilia A. ( 29575770 )
Dexamethasone promotes durable factor VIII -specific tolerance in hemophilia A mice via thymic mechanisms. ( 29674503 )
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. ( 29388273 )
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 )
A Case of Acquired Hemophilia A: Usefulness of Various Methods for Judging Mixing Test Results for Monitoring the Effect of Immunosuppressive Therapy. ( 29739073 )
Genetic Risk Factors and Inhibitor Development in Hemophilia: What Is Known and Searching for the Unknown. ( 29940657 )
Successful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A. ( 29589344 )
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 )
The rare coexistence of high titer inhibitor development and gastrointestinal stromal tumor in a patient with severe hemophilia: A case report. ( 29724628 )
Risk of major comorbidities among workers with hemophilia: A 14-year population-based study. ( 29419677 )
The Development of Acute Systemic Multiple Thrombosis after Achieving Remission during Systemic Glucocorticoid Therapy for Acquired Hemophilia A. ( 29526954 )
Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report. ( 29383626 )
Designer nuclease-mediated gene correction via homology-directed repair in an in vitro model of canine hemophilia B. ( 29608237 )
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 )
Practical Implications of Factor IX Gene Transfer for Individuals with Hemophilia B: A Clinical Perspective. ( 29624465 )
Autologous and Heterologous Cell Therapy for Hemophilia B toward Functional Restoration of Factor IX. ( 29719266 )
Can the plasmaderived factor VIII still play a role in the treatment of acquired hemophilia A at the time of new drugs? ( 29608457 )
Application of the ISTH bleeding score in hemophilia. ( 29921547 )
Desmopressin in moderate hemophilia A patients: a treatment worth considering. ( 29305412 )
Pharmacokinetic Studies of Factor VIII in Chinese Boys with Severe Hemophilia A: A Single-Center Study. ( 29848837 )
Homeopathic Medicine Reduces Pain and Hemarthrosis in Moderate and Severe Hemophilia: A Multicentric Study. ( 29807367 )
An Evaluation of Hemostatic Abnormalities in Patients With Hemophilia According to the Activated Partial Thromboplastin Time Waveform. ( 29439640 )
WhatA's new in Gene Therapy of Hemophilia ( 29446741 )
Bypassing Agents for Bleeding Prophylaxis in Hemophilia B: A Clinical Conundrum? ( 29746288 )
Shifting Landscape of Hemophilia Therapy: Implications for Current Clinical Laboratory Coagulation Assays. ( 29884997 )
Prophylactic versus on-demand treatments for hemophilia: advantages and drawbacks. ( 29886751 )
The evolving understanding of factor VIII binding sites and implications for the treatment of hemophilia A. ( 29866493 )
Successful management of concurrent acquired hemophilia A and a lupus anticoagulant in a pediatric hematopoietic stem cell transplant patient. ( 29330401 )
Hemlibra's Remarkable Efficacy A Beacon For Hemophilia Patients. ( 29451467 )
Inhibitor Risk Stratification and Individualized Treatment in Patients With Nonsevere Hemophilia A: A Single-Institution Practice Audit. ( 29108420 )
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. ( 29357978 )
Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature. ( 29780157 )
Recombinant factor VIII: past, present and future of treatment of hemophilia A. ( 29869648 )
Correction: Optimization of prophylaxis for hemophilia A. ( 29709032 )
Risk factors for inhibitor development in severe hemophilia a. ( 29879570 )

Variations for Hemophilia

Expression for Hemophilia

Search GEO for disease gene expression data for Hemophilia.

Pathways for Hemophilia

Pathways related to Hemophilia according to KEGG:

# 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
Show member pathways
13.34 F2 F7 F8 F9 LMAN1 MCFD2
Show member pathways
12.94 F2 F3 F7 F8 F9 TFPI
Show member pathways
12.35 F2 F3 F7 F8 F9 TFPI
Show member pathways
11.7 F2 F3 F7 F8 F9 TFPI
Show member pathways
11.58 F2 F7 F9
6 11.37 F2 F3 F7 F8 F9 LMAN1
7 11.16 F2 VWF
8 10.9 F2 TFPI
9 10.61 F2 F7 F9

GO Terms for Hemophilia

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 9.8 F2 F3 F7 F8 F9 TFPI
3 Golgi lumen GO:0005796 9.5 F2 F7 F9
4 endoplasmic reticulum lumen GO:0005788 9.46 F2 F7 F8 F9
5 ER to Golgi transport vesicle membrane GO:0012507 9.43 LMAN1 MCFD2
6 COPII-coated ER to Golgi transport vesicle GO:0030134 9.4 F8 LMAN1
7 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.13 F8 LMAN1 MCFD2
8 serine-type peptidase complex GO:1905286 8.62 F3 F7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.73 F2 F7 F8 F9 LMAN1 MCFD2
2 platelet activation GO:0030168 9.67 F2 F8 VWF
3 COPII vesicle coating GO:0048208 9.63 F8 LMAN1 MCFD2
4 blood coagulation, intrinsic pathway GO:0007597 9.62 F2 F8 F9 VWF
5 signal peptide processing GO:0006465 9.58 F2 F7 F9
6 blood coagulation GO:0007596 9.56 F2 F3 F7 F8 F9 LMAN1
7 protein N-linked glycosylation via asparagine GO:0018279 9.54 LMAN1 MCFD2
8 peptidyl-glutamic acid carboxylation GO:0017187 9.54 F2 F7 F9
9 acute-phase response GO:0006953 9.52 F2 F8
10 positive regulation of blood coagulation GO:0030194 9.51 F2 F7
11 positive regulation of positive chemotaxis GO:0050927 9.48 F3 F7
12 blood coagulation, extrinsic pathway GO:0007598 9.46 F3 F7 F9 TFPI
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F3 F7
14 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 for Hemophilia

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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