MCID: HMP007
MIFTS: 57

Hemophilia malady

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Hemophilia

Aliases & Descriptions for Hemophilia:

Name: Hemophilia 71 50 25 29 41 3
Hemophilia, Hereditary 25
Hemophilia, Familial 25
Hemophilia, Nos 69
Hemophilia a 69

Classifications:



Summaries for Hemophilia

NIH Rare Diseases : 50 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 hemarthrosis and von willibrand disease, type 3, 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 Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. 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 cardiovascular system and homeostasis/metabolism

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.

MedlinePlus : 41 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.

Related Diseases for Hemophilia

Diseases in the Hemophilia family:

Hemophilia B Hemophilia a
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 299)
id Related Disease Score Top Affiliating Genes
1 hemarthrosis 32.0 F2 F3
2 von willibrand disease, type 3 31.3 F7 VWF
3 lupus erythematosus 30.0 F3 VWF
4 artery disease 29.7 F2 F3
5 hemolytic-uremic syndrome 29.2 F2 F3
6 pericarditis 29.0 F3 F5 VWF
7 myeloproliferative neoplasm 28.8 F10 F2 F3 F8 VWF
8 essential thrombocythemia 28.6 F2 F3 F7 F8 F9 VWF
9 myocardial infarction 28.4 F10 F2 F3 F5 F7 F8
10 hemophilia b 12.5
11 hemophilia a 12.4
12 acquired hemophilia 12.2
13 acquired hemophilia a 12.2
14 severe hemophilia a 11.9
15 severe hemophilia b 11.9
16 mild hemophilia a 11.9
17 mild hemophilia b 11.8
18 moderately severe hemophilia a 11.8
19 moderately severe hemophilia b 11.8
20 symptomatic form of hemophilia a in female carriers 11.7
21 symptomatic form of hemophilia b in female carriers 11.7
22 von willebrand's disease 11.1
23 factor vii deficiency 11.1
24 thrombosis 11.1
25 thrombophilia 11.1
26 factor xi deficiency, autosomal recessive 11.0
27 combined factor v and viii deficiency 10.9
28 factor v and factor viii, combined deficiency of 10.9
29 von willebrand disease, types 2a, 2b, 2m, and 2n 10.7
30 von willebrand disease, type 1 10.7
31 primary peritoneal carcinoma 10.3 F8 F9
32 vcl-related familial hypertrophic cardiomyopathy 10.2 F8 VWF
33 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.2 F8 VWF
34 social phobia 10.2 F2 F8
35 headache 10.2 F8 VWF
36 vcl-related dilated cardiomyopathy 10.2 F8 VWF
37 noma 10.2 F3 F9
38 influenza 10.2 F2 F3
39 mixed hepatoblastoma 10.2 F2 F3
40 multiple mitochondrial dysfunctions syndrome 10.2 F3 F8
41 dmd-related dilated cardiomyopathy 10.2 F2 F3
42 spinal cord lipoma 10.2 F2 F3
43 sporotrichosis 10.2 F2 F3
44 midline cystocele 10.2 F2 F3
45 chronic inflammatory demyelinating polyneuritis 10.2 F2 F3
46 brain stem cancer 10.2 F2 F3
47 ductal carcinoma in situ 10.2 F2 F3
48 small intestinal l-cell glucagon-like peptide producing tumor 10.2 F2 VWF
49 secretory diarrhea myopathy and deafness 10.2 F3 VWF
50 renal adenoma 10.2 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:


angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Hemophilia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 F10 F2 F3 F5 F7 F9
2 homeostasis/metabolism MP:0005376 9.61 F10 F2 F3 F5 F7 F8
3 mortality/aging MP:0010768 9.28 F10 F2 F3 F5 F7 F8

Drugs & Therapeutics for Hemophilia

Drugs for Hemophilia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 183)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3 22916-47-8 4189
2
Tranexamic Acid Approved Phase 4 1197-18-8 5526
3
Bevacizumab Approved, Investigational Phase 4 216974-75-3
4
Indinavir Approved Phase 4,Phase 3,Phase 2 150378-17-9 5362440
5
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1 30516-87-1 35370
6
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2 134678-17-4 60825
7
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
8
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
9
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
10
Fluconazole Approved Phase 4 86386-73-4 3365
11
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
12
Stavudine Approved, Investigational Phase 4,Phase 3,Phase 2 3056-17-5 18283
13
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
14
Benzocaine Approved Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
15
Menthol Approved Phase 4 2216-51-5 16666
16
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
17
Zalcitabine Approved Phase 4,Phase 3,Phase 2 7481-89-2 24066
18
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
19 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
20 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1
21 Thrombin Phase 4,Phase 2,Phase 3
22 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
23 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
24 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1
25 Angiogenesis Inhibitors Phase 4
26 Angiogenesis Modulating Agents Phase 4
27 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Antifungal Agents Phase 4,Phase 3
30 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
31 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
32 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
33 triamcinolone acetonide Phase 4
34
Histamine Phosphate Phase 4 51-74-1 65513
35 interferons Phase 4,Phase 3,Phase 2
36
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
37 Adjuvants, Immunologic Phase 4
38 Natriuretic Agents Phase 4,Phase 2,Phase 1
39 Steroid Synthesis Inhibitors Phase 4
40 Complement Factor I Phase 4
41 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
42 Cytochrome P-450 CYP2C9 Inhibitors Phase 4,Phase 2
43 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3,Phase 2
44 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
45 Hormone Antagonists Phase 4,Phase 2,Phase 3
46 Triamcinolone diacetate Phase 4
47 Triamcinolone hexacetonide Phase 4
48 Hormones Phase 4,Phase 2,Phase 3,Phase 1
49 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3
50 Vasopressins Phase 4,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 531)
id Name Status NCT ID Phase
1 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4
2 Intra-articular Bevacizumab for Recurrent Hemarthroses at Target Joints With Chronic Hemophilic Synovitis Unknown status NCT02060305 Phase 4
3 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4
4 Combination Therapy of Low Doses of rFVIIa and FEIBA for Severe Hemophilia A Patients With an Inhibitor to Factor VIII Completed NCT00284193 Phase 4
5 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
6 Prospective Registry of European Hemophilia B Patients Receiving BeneFIX® for Usual Use Completed NCT00167973 Phase 4
7 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
8 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4
9 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4
10 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4
11 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
12 Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B Completed NCT00195221 Phase 4
13 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4
14 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
15 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4
16 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
17 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4
18 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4
19 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A Completed NCT00666406 Phase 4
20 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
21 Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients Completed NCT00244114 Phase 4
22 Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00243386 Phase 4
23 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4
24 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4
25 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
26 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4
27 Russian Kogenate Pediatric Study Completed NCT00632814 Phase 4
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
31 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4
32 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4
33 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
34 China ADVATE PTP Study Completed NCT02170402 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
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
39 Pegasys® Plus Ribavirin in Hemophilic Patients With Hepatitis C Virus Infection Completed NCT00707772 Phase 4
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
41 The Assessment of Tranexamic Acid in Women With Menorrhagia Who Have Bleeding Disorders Completed NCT00904709 Phase 4
42 Study to Reveal if Fibrinogen Treatment Effects Blood Clotting Better Than a Platelet Transfusion Completed NCT01955811 Phase 4
43 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4
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
45 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4
46 Multicentre, Non-controlled, Prospective, Post-Marketing Safety Study Following Long-Term Prophylactic OptivateTreatment in Subjects With Severe Haemophilia A Recruiting NCT01811875 Phase 4
47 Safety/Efficacy Study to Assess Whether FVIII/VWF Concentrate Can Induce Immune Tolerance in Haemophilia A Patients Recruiting NCT02479087 Phase 4
48 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Recruiting NCT02999308 Phase 4
49 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Not yet recruiting NCT03103542 Phase 4
50 A Study to Evaluate Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Participants With Inhibitors Undergoing the First ITI Treatment Not yet recruiting NCT03093480 Phase 4

Search NIH Clinical Center for Hemophilia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Hemophilia

Genetic tests related to Hemophilia:

id Genetic test Affiliating Genes
1 Hemophilia 29

Anatomical Context for Hemophilia

MalaCards organs/tissues related to Hemophilia:

39
Brain, Testes, Liver, Lung, Heart, T Cells, B Cells

Publications for Hemophilia

Articles related to Hemophilia:

(show top 50) (show all 1833)
id Title Authors Year
1
Mortality caused by intracranial bleeding in non-severe hemophilia A patients. ( 28374963 )
2017
2
CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice. ( 28508290 )
2017
3
Clinical characteristics and outcomes of acquired hemophilia A: experience at a single center in Japan. ( 28299631 )
2017
4
Iranian Low-dose Escalating Prophylaxis Regimen in Children with Severe Hemophilia A and B. ( 28049359 )
2017
5
Evaluating the psychosocial impact of hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319335 )
2017
6
The State of Skewed X Chromosome Inactivation is Retained in the Induced Pluripotent Stem Cells from a Female with Hemophilia B. ( 28401797 )
2017
7
Understanding adherence to treatment and physical activity in children with hemophilia: The role of psychosocial factors. ( 28067581 )
2017
8
Successful total hip replacement with sequential administration of bypassing agents in an adolescent boy with hemophilia A and high inhibitor titers. ( 28079537 )
2017
9
Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female. ( 28452855 )
2017
10
Prediction of Intraoperative Blood Loss during Total Knee Arthroplasty in HCV+ and HCV- Patients with Hemophilia A. ( 28361432 )
2017
11
A Case of Hemophilia A Presenting in a Neonate and a Review of the Literature. ( 28321438 )
2017
12
Management of US men, women, and children with hemophilia and methods and demographics of the Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319338 )
2017
13
Disappearance of acquired hemophilia A after complete remission in a Multiple Myeloma patient. ( 28077343 )
2017
14
Acquired Hemophilia A in a Patient with Non-Small Cell Lung Carcinoma: A Rare Paraneoplastic Phenomenon. ( 28457068 )
2017
15
Recent advances in hemophilia B therapy. ( 28243977 )
2017
16
The first case report of a patient with coexisting hemophilia B and Down syndrome. ( 28401110 )
2017
17
Modulating immunogenicity of factor IX by fusion to an immunoglobulin Fc domain: a study using a hemophilia B mouse model. ( 28166609 )
2017
18
Driving the hemophilia tolerance CAR. ( 28082293 )
2017
19
Perioperative Considerations in a Patient with Hemophilia A: A Case Report and Review of Literature. ( 28298793 )
2017
20
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 )
2017
21
Frequency and epitope specificity of anti-factor VIII C1 domain antibodies in acquired and congenital hemophilia A. ( 28507083 )
2017
22
Immune Modulatory Cell Therapy for Hemophilia B Based on CD20-Targeted Lentiviral Gene Transfer to Primary B Cells. ( 28480307 )
2017
23
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B. ( 27865967 )
2017
24
Acquired hemophilia A: a review of recent data and new therapeutic options. ( 28441921 )
2017
25
Repeated Diffuse Alveolar Hemorrhage in a Patient with Hemophilia B. ( 28202865 )
2017
26
Single-tube tetradecaplex panel of highly polymorphic microsatellite markers < 1 Mb from F8 for simplified preimplantation genetic diagnosis of hemophilia A. ( 28345288 )
2017
27
Successful Management of Acquired Hemophilia A Associated with Bullous Pemphigoid: A Case Report and Review of the Literature. ( 28458935 )
2017
28
Monitoring once-weekly recombinant factor IX prophylaxis in hemophilia B with thrombin generation assay and factor IX activity. ( 28406575 )
2017
29
Autoimmune bullous disease and Hashimoto's disease complicated by acquired hemophilia A. ( 28381691 )
2017
30
Acquired hemophilia A: Updated review of evidence and treatment guidance. ( 28470674 )
2017
31
Characterization of AAV-mediated human factor VIII gene therapy in hemophilia A mice. ( 28056565 )
2017
32
Impact of mild to severe hemophilia on engagement in recreational activities by US men, women, and children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319336 )
2017
33
First case report of hemophilia B Leyden in Japan. ( 28168417 )
2017
34
Perioperative Coagulation Management of a Hemophilia A Patient During Cardiac Surgery. ( 28388863 )
2017
35
Impact of mild to severe hemophilia on education and work by US men, women, and caregivers of children with hemophilia B: The Bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S) study. ( 28319337 )
2017
36
Oral Tolerance Induction in Hemophilia B Dogs Fed with Transplastomic Lettuce. ( 28153098 )
2017
37
Acquired hemophilia as initial presentation in a patient with Systemic Lupus Erythematosus. ( 28523993 )
2017
38
Elucidation of Factor VIII Activity Pharmacokinetics: a Pooled Population Analysis in Hemophilia A Patients Treated with Moroctocog Alfa. ( 28437834 )
2017
39
Long-term efficacy and safety of prophylaxis with recombinant factor VIII in Chinese pediatric patients with hemophilia A: a multi-center, retrospective, non-interventional, phase IV (ReCARE) study. ( 28326849 )
2017
40
Hemophilia Management via Data Collection and Reporting: Initial Findings from the Comprehensive Care Sustainability Collaborative. ( 28025929 )
2017
41
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A. ( 28056528 )
2017
42
Intensity of factor VIII treatment and the development of inhibitors in nonsevere hemophilia A patients: results of the INSIGHT case-control study. ( 28440011 )
2017
43
The prevalence of factor VIII and IX inhibitors among Saudi patients with hemophilia: Results from the Saudi national hemophilia screening program. ( 28079788 )
2017
44
Regulatory B Cells Are Functionally Impaired in Patients Having Hemophilia A With Inhibitors. ( 28393618 )
2017
45
Point-of-care ultrasonography (POCUS) in hemophilia A: a commentary on current status and its potential role for improving prophylaxis management in severe hemophilia A. ( 28491266 )
2017
46
Articular Bleeding in Hemophilia. ( 28049407 )
2016
47
What is the role of an extended half-life product in immune tolerance induction in a patient with severe hemophilia A and high-titer inhibitors? ( 27913541 )
2016
48
Massive adrenal vein aneurysm mimicking an adrenal tumor in a patient with hemophilia A: a case report and review of the literature. ( 27906086 )
2016
49
Influence of factor VIII level and its inhibitor titer on the therapeutic response to corticosteroids alone in the management of acquired hemophilia: A retrospective single-center study. ( 27902587 )
2016
50
Genetic diagnosis in hemophilia and von Willebrand disease. ( 27596108 )
2016

Variations for Hemophilia

Expression for Hemophilia

Search GEO for disease gene expression data for Hemophilia.

Pathways for Hemophilia

Pathways related to Hemophilia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 F10 F2 F5 F7 F8 F9
2
Show member pathways
12.99 F10 F2 F3 F5 F7 F8
3
Show member pathways
12.48 F10 F2 F3 F5 F7 F8
4 11.75 F10 F2 F3 F5 F7 F8
5
Show member pathways
11.7 F10 F2 F7 F9
6
Show member pathways
11.48 F10 F2 F3 F5 F7 F8
7 11.16 F2 VWF
8 10.9 F2 TFPI
9 10.8 F10 F2 F7 F9

GO Terms for Hemophilia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 F2 F3 F5 F7 F8 F9
2 extracellular region GO:0005576 9.61 F10 F2 F3 F5 F7 F8
3 platelet alpha granule lumen GO:0031093 9.58 F5 F8 VWF
4 ER to Golgi transport vesicle GO:0030134 9.48 F5 F8
5 Golgi lumen GO:0005796 9.46 F10 F2 F7 F9
6 platelet alpha granule GO:0031091 9.43 F5 VWF
7 intrinsic component of external side of plasma membrane GO:0031233 9.37 F10 F3
8 serine-type peptidase complex GO:1905286 9.32 F3 F7
9 endoplasmic reticulum lumen GO:0005788 9.1 F10 F2 F5 F7 F8 F9
10 plasma membrane GO:0005886 10.06 F10 F2 F3 F5 F7 F8

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 F10 F2 F5 F7 F8 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.85 F10 F2 F5 F7 F8 F9
3 platelet activation GO:0030168 9.76 F2 F5 F8 VWF
4 positive regulation of cell migration GO:0030335 9.73 F10 F3 F7
5 platelet degranulation GO:0002576 9.72 F5 F8 VWF
6 signal peptide processing GO:0006465 9.71 F10 F2 F7 F9
7 positive regulation of protein kinase B signaling GO:0051897 9.69 F10 F3 F7
8 blood coagulation, intrinsic pathway GO:0007597 9.65 F10 F2 F8 F9 VWF
9 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
10 blood coagulation GO:0007596 9.61 F10 F2 F3 F5 F7 F8
11 acute-phase response GO:0006953 9.57 F2 F8
12 blood coagulation, extrinsic pathway GO:0007598 9.55 F10 F3 F7 F9 TFPI
13 positive regulation of blood coagulation GO:0030194 9.54 F2 F7
14 positive regulation of positive chemotaxis GO:0050927 9.52 F3 F7
15 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F3 F7
16 response to vitamin K GO:0032571 9.48 F5 F7
17 hemostasis GO:0007599 9.28 F10 F2 F3 F5 F7 F8

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

id Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.56 F10 F2 F7 F9
2 peptidase activity GO:0008233 9.46 F10 F2 F7 F9
3 copper ion binding GO:0005507 9.32 F5 F8
4 serine-type peptidase activity GO:0008236 9.26 F10 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.17 F10 F2 F3 F5 F7 F8

Sources for Hemophilia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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