Categories: Rare diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Hemophilia

MalaCards integrated aliases for Hemophilia:

Name: Hemophilia 72 49 24 36 28 40 3 59 59
Hemophilia, Hereditary 24
Hemophilia, Familial 24
Hemophilia, Nos 69
Hemophilia a 69


External Ids:

KEGG 36 H00219
UMLS 69 C0684275

Summaries for Hemophilia

NIH Rare Diseases : 49 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. Last updated: 1/10/2012

MalaCards based summary : Hemophilia, also known as hemophilia, hereditary, is related to acquired hemophilia and acquired hemophilia a, and has symptoms including edema, chest pain and angina pectoris. An important gene associated with Hemophilia is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Complement and coagulation cascades and ECM-receptor interaction. The drugs 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 : 24 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.

MedlinePlus : 40 Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. Without it, you may bleed for a long time after an injury or accident. You also may bleed into your knees, ankles, and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream. You may need it on a regular basis, or just when bleeding occurs. NIH: National Heart, Lung, and Blood Institute

CDC : 3 Hemophilia is 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 : 59
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.

Related Diseases for Hemophilia

Diseases in the Hemophilia family:

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

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

(show top 50) (show all 312)
# Related Disease Score Top Affiliating Genes
1 acquired hemophilia 33.7 F3 F8 F9
2 acquired hemophilia a 33.7 F3 F8 F9
3 severe hemophilia b 33.6 F8 F9
4 mild hemophilia a 33.5 F8 VWF
5 hemophilia a 33.0 F3 F7 F8 F9 VWF
6 severe hemophilia a 33.0 F2 F3 F8
7 hemophilia b 32.9 F2 F3 F7 F8 F9
8 factor xi deficiency 31.8 F2 F3 F8 F9
9 von willebrand disease, type 3 31.8 F8 VWF
10 von willebrand's disease 31.8 F2 F3 F8 F9 VWF
11 von willebrand disease, type 2 31.7 F7 F8 VWF
12 hemarthrosis 31.4 F7 F8 F9 VWF
13 factor viii deficiency 31.2 F2 F8 LMAN1 MCFD2 VWF
14 factor v and factor viii, combined deficiency of, 2 31.1 F8 LMAN1 MCFD2
15 thrombosis 30.8 F2 F3 F9 TFPI VWF
16 von willebrand disease, type 1 30.7 F2 F3 F8 VWF
17 thrombophilia 30.3 F2 F3 F7 F8 F9 VWF
18 compartment syndrome 29.8 F2 F8
19 factor xii deficiency 29.8 F3 F9
20 cardiac tamponade 29.6 F2 F8 F9
21 femoral neuropathy 29.5 F2 F3
22 x-linked disease 29.4 F8 F9
23 disseminated intravascular coagulation 29.4 F2 F3 F9
24 pulmonary embolism 29.4 F2 F3 F9
25 arteries, anomalies of 29.4 F2 F3 VWF
26 thrombasthenia 29.3 F2 F3
27 purpura 29.3 F2 F3 VWF
28 portal vein thrombosis 29.2 F2 F7
29 factor vii deficiency 29.1 F2 F3 F7 F8 F9
30 thrombophilia due to thrombin defect 29.1 F2 F3 F8 VWF
31 essential thrombocythemia 29.0 F2 F3 VWF
32 afibrinogenemia 28.7 F2 F3 F8 VWF
33 afibrinogenemia, congenital 28.7 F2 F3 F8 VWF
34 myocardial infarction 28.6 F2 F3 F7 F8 VWF
35 factor v deficiency 28.5 F2 F3 F7 F8 F9
36 stroke, ischemic 28.5 F2 F3 F7 VWF
37 heart disease 28.4 F2 F3 F7 VWF
38 glanzmann thrombasthenia 28.3 F2 F3 F8 F9 VWF
39 hemorrhagic disease 28.1 F2 F3 F7 F8 F9 VWF
40 factor x deficiency 27.7 F2 F3 F7 F9 TFPI VWF
41 mild hemophilia b 11.9
42 moderately severe hemophilia a 11.9
43 moderately severe hemophilia b 11.9
44 hemophilia a with vascular abnormality 11.9
45 symptomatic form of hemophilia a in female carriers 11.8
46 symptomatic form of hemophilia b in female carriers 11.8
47 factor v and factor viii, combined deficiency of, 1 11.0
48 multicentric castleman disease 10.4 F3 F8
49 factor xiii deficiency 10.4 F3 F8
50 fainting 10.4 F8 VWF

Comorbidity relations with Hemophilia via Phenotypic Disease Network (PDN):

Deficiency Anemia

Graphical network of the top 20 diseases related to Hemophilia:

Diseases related to Hemophilia

Symptoms & Phenotypes for Hemophilia

UMLS symptoms related to Hemophilia:

edema, chest pain, angina pectoris

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

25 (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: 59

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 207)
# 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 1197-18-8 5526
Bevacizumab Approved, Investigational Phase 4 216974-75-3
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3
Indinavir Approved Phase 4,Phase 3,Phase 2 150378-17-9 5362440
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1 30516-87-1 35370
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
Menthol Approved Phase 4,Early Phase 1 2216-51-5 16666
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
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
20 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
21 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
23 Angiogenesis Inhibitors Phase 4
24 Angiogenesis Modulating Agents Phase 4
25 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
26 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
27 Antifungal Agents Phase 4,Phase 3
28 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
30 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
32 triamcinolone acetonide Phase 4
Histamine Phosphate Phase 4 51-74-1 65513
34 interferons Phase 4,Phase 3,Phase 2
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
36 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
37 Adjuvants, Immunologic Phase 4
38 Steroid Synthesis Inhibitors Phase 4
39 Natriuretic Agents Phase 4,Phase 2,Phase 1
40 Complement Factor I Phase 4
41 Triamcinolone diacetate Phase 4
42 Triamcinolone hexacetonide Phase 4
43 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 2
44 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
45 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2
46 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
47 Vasopressins Phase 4,Phase 2,Phase 1
48 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1
49 Hormone Antagonists Phase 4,Phase 3,Phase 2
50 Viscosupplements Phase 4

Interventional clinical trials:

(show top 50) (show all 584)

# 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 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
4 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
5 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
6 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
7 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
8 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
9 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
10 Prospective Registry of European Hemophilia B Patients Receiving BeneFIX® for Usual Use Completed NCT00167973 Phase 4
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 Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B Completed NCT00195221 Phase 4
14 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 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 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
17 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
18 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4 ReFacto;Advante
19 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
20 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)
21 Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients Completed NCT00244114 Phase 4 blood draw
22 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
23 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
24 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
25 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
26 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
27 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)
28 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
29 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
30 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
31 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
32 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
33 China ADVATE PTP Study Completed NCT02170402 Phase 4
34 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
35 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
36 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
37 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
38 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
39 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)
40 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
41 The Assessment of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4 tranexamic acid
42 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
43 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
44 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
45 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
46 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
47 Study of Emicizumab Prophylaxis in Participants With Hemophilia A and Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
48 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
49 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Recruiting NCT03103542 Phase 4
50 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT

Search NIH Clinical Center for Hemophilia

Inferred drug relations via UMLS 69 / NDF-RT 47 :

Genetic Tests for Hemophilia

Genetic tests related to Hemophilia:

# Genetic test Affiliating Genes
1 Hemophilia 28

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 1946)
# Title Authors Year
WhatA's new in Gene Therapy of Hemophilia ( 29446741 )
Intracranial Bleeding In A Female Hemophilia Patient: Molecular Analysis of Factor 8 Gene And Determination of A Novel Mutation. ( 29391337 )
Modified Primary Prophylaxis in Previously Untreated Patients With Severe Hemophilia A in Iran. ( 29356759 )
Setting the stage for individualized therapy in hemophilia: What role can pharmacokinetics play? ( 29426727 )
Manual therapy in the treatment of patients with hemophilia B and inhibitor. ( 29357868 )
Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the<i>F8</i>gene. ( 29386375 )
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 )
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 )
Replacement therapy for coronary artery bypass surgery in patients with hemophilia A and B. ( 29439283 )
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. ( 29357978 )
Gene therapies for hemophilia hit the mark in clinical trials. ( 29414930 )
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B. ( 29388273 )
Current characteristics of hemophilia patients co-infected with HIV/HCV in Japan. ( 29434818 )
Inhibitors in Nonsevere Hemophilia A: What Is Known and Searching for the Unknown. ( 29439277 )
Desmopressin in moderate hemophilia A patients: a treatment worth considering. ( 29305412 )
Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report. ( 29383626 )
Risk of major comorbidities among workers with hemophilia: A 14-year population-based study. ( 29419677 )
The impact of extended half-life versus conventional factor product on hemophilia caregiver burden. ( 29392598 )
Trenonacog alfa for prophylaxis, on-demand and perioperative management of hemophilia B. ( 29172774 )
Oxidation of factor VIII increases its immunogenicity in mice with severe hemophilia A. ( 29395036 )
An Evaluation of Hemostatic Abnormalities in Patients With Hemophilia According to the Activated Partial Thromboplastin Time Waveform. ( 29439640 )
Optimization of prophylaxis for hemophilia A. ( 29447219 )
Successful endoscopic sphincterotomy for choledocholithiasis in a patient with severe hemophilia A and inhibitors. ( 29396835 )
Novel therapies and current clinical progress in hemophilia A. ( 29387330 )
Hemophilia Gene Therapies Show Promise. ( 29450507 )
Successful management of concurrent acquired hemophilia A and a lupus anticoagulant in a pediatric hematopoietic stem cell transplant patient. ( 29330401 )
Infrared Thermography as a Non-Invasive Tool to Explore Differences in the Musculoskeletal System of Children with Hemophilia Compared to an Age-Matched Healthy Group. ( 29419797 )
Acquired hemophilia with thrombosis in a cancer patient: an unusual presentation. ( 29095762 )
Hemlibra's Remarkable Efficacy A Beacon For Hemophilia Patients. ( 29451467 )
Targeting activated protein C to treat hemophilia. ( 28632502 )
Status and trend analysis of prophylactic usage of recombinant Factor VIII in chinese pediatric patients with hemophilia A: ReCare- A Retrospective, Phase IV, Non-Interventional Study. ( 28532239 )
Bypassing agent prophylaxis in people with hemophilia A or B with inhibitors. ( 28944952 )
Hemophilia Management via Data Collection and Reporting: Initial Findings from the Comprehensive Care Sustainability Collaborative. ( 28025929 )
Acquired Hemophilia A in an advanced age patient of hispanic origin: a case report. ( 28870236 )
Establishing a comprehensive genetic diagnosis strategy for hemophilia B and its application in Chinese population. ( 29274203 )
Evaluating the psychosocial impact of hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319335 )
Acquired hemophilia A: a review of recent data and new therapeutic options. ( 28441921 )
Frequency and epitope specificity of anti-factor VIII C1 domain antibodies in acquired and congenital hemophilia A. ( 28507083 )
Diagnosis and treatment of acquired hemophilia: aA single -center experience. ( 29112188 )
Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant. ( 29211678 )
Acquired hemophilia A resolution in a hepatitis C virus/human immunodeficiency virus-coinfected patient with cure of hepatitis C by direct-acting antiviral agents. ( 28960371 )
Recent advances in hemophilia B therapy. ( 28243977 )
Coronary angiography with or without percutaneous coronary intervention in patients with hemophilia-Systematic review. ( 28895303 )
Screening of Intron 1 Inversion of the Factor VIII Gene in 130 Patients with Severe Hemophilia A from a Pakistani Cohort. ( 28294101 )
Identification of people with acquired hemophilia in a large electronic health record database. ( 28769599 )
Long-term correction of hemophilia A mice following lentiviral mediated delivery of an optimized canine factor VIII gene. ( 28905885 )
Emerging Therapeutic Strategies in the Treatment of Hemophilia A. ( 28750425 )
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice. ( 28508290 )
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
Acute Compartment Syndrome after an Olecranon Fracture in a Patient with Mild Hemophilia B. ( 28819614 )

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
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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