HEMA
MCID: HMP029
MIFTS: 63

Hemophilia a (HEMA) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemophilia a

Aliases & Descriptions for Hemophilia a:

Name: Hemophilia a 54 12 23 50 24 56 66 13 52 42 69
Factor Viii Deficiency 12 23 50 24 56 66 14 69
Classic Hemophilia 50 24 66
Factor 8 Deficiency 50 66
Congenital Factor Viii Disorder 12
Hemophilia a, Congenital 50
Classical Hemophilia 50
Hemophilia, Classic 50
Subhemophilia 12
Haemophilia a 50
Hem a 50
Hema 66

Characteristics:

Orphanet epidemiological data:

56
hemophilia a
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (France),1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

GeneReviews:

23

GeneReviews:

23
Penetrance All males with an f8 pathogenic variant will be affected and will have approximately the same severity of disease as other affected males in the family. however, other genetic and environmental effects may modify the clinical severity to some extent...

Classifications:



External Ids:

OMIM 54 306700
Disease Ontology 12 DOID:12134
ICD10 33 D66
ICD9CM 35 286.0
MeSH 42 D006467
NCIt 47 C27146
SNOMED-CT 64 28293008
Orphanet 56 ORPHA98878
ICD10 via Orphanet 34 D66
MESH via Orphanet 43 D006467
UMLS via Orphanet 70 C0019069
UMLS 69 C0019069

Summaries for Hemophilia a

OMIM : 54 Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor... (306700) more...

MalaCards based summary : Hemophilia a, also known as factor viii deficiency, is related to von willibrand disease, type 3 and hemarthrosis, and has symptoms including osteoarthritis, abnormal bleeding and bruising susceptibility. An important gene associated with Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. The drugs Benzocaine and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and t cells, and related phenotypes are cardiovascular system and homeostasis/metabolism

NIH Rare Diseases : 50 hemophilia a is a bleeding disorder in which the blood does not clot normally. people with this disorder have prolonged bleeding or oozing after an injury, surgery, or tooth extraction. in severe cases, heavy bleeding occurs after minor injury or even when there is no injury (spontaneous bleeding). serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. in milder forms there is no spontaneous bleeding, and the disorder may not become apparent until after a surgery or serious injury. hemophilia a is inherited in an x-linked recessive manner and is caused by changes (mutations) in the f8 gene. the main treatment is called replacement therapy, during which clotting factor viii is dripped or injected into a vein. last updated: 3/18/2015

UniProtKB/Swiss-Prot : 66 Hemophilia A: A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.

Disease Ontology : 12 An X-linked disease that has material basis in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

GeneReviews: NBK1404

Related Diseases for Hemophilia a

Diseases in the Hemophilia family:

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

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

(show top 50) (show all 230)
id Related Disease Score Top Affiliating Genes
1 von willibrand disease, type 3 31.2 F7 VWF
2 hemarthrosis 29.9 F2 F3
3 lupus erythematosus 29.6 F3 VWF
4 hemolytic-uremic syndrome 29.2 F2 F3
5 pericarditis 29.0 F3 F5 VWF
6 essential thrombocythemia 28.6 F2 F3 F7 F8 F9 VWF
7 myocardial infarction 27.6 F10 F11 F2 F3 F5 F7
8 acquired hemophilia a 12.3
9 severe hemophilia a 12.1
10 mild hemophilia a 12.1
11 moderately severe hemophilia a 12.0
12 multiple sclerosis-ichthyosis-factor viii deficiency syndrome 12.0
13 symptomatic form of hemophilia a in female carriers 11.9
14 hemophilia 11.8
15 hemophilia b 11.2
16 von willebrand disease, types 2a, 2b, 2m, and 2n 10.6
17 von willebrand disease, type 1 10.6
18 acquired hemophilia 10.5
19 primary peritoneal carcinoma 10.3 F8 F9
20 vcl-related familial hypertrophic cardiomyopathy 10.2 F8 VWF
21 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.2 F8 VWF
22 social phobia 10.2 F2 F8
23 headache 10.2 F8 VWF
24 vcl-related dilated cardiomyopathy 10.2 F8 VWF
25 noma 10.2 F3 F9
26 influenza 10.2 F2 F3
27 mixed hepatoblastoma 10.2 F2 F3
28 multiple mitochondrial dysfunctions syndrome 10.2 F3 F8
29 dmd-related dilated cardiomyopathy 10.2 F2 F3
30 spinal cord lipoma 10.2 F2 F3
31 sporotrichosis 10.2 F2 F3
32 midline cystocele 10.2 F2 F3
33 chronic inflammatory demyelinating polyneuritis 10.2 F2 F3
34 brain stem cancer 10.2 F2 F3
35 ductal carcinoma in situ 10.2 F2 F3
36 small intestinal l-cell glucagon-like peptide producing tumor 10.2 F2 VWF
37 secretory diarrhea myopathy and deafness 10.2 F3 VWF
38 renal adenoma 10.2 F8 VWF
39 monocular exotropia 10.2 F3 VWF
40 mobitz type ii atrioventricular block 10.2 F2 F3
41 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.2 F2 F3
42 porphyria 10.2 F2 F7
43 erythrocytosis, familial, 4 10.2 F5 F8
44 zika virus congenital syndrome 10.2 F3 F8
45 artery disease 10.2 F2 F3
46 pulpitis 10.2 F2 VWF
47 red color blindness 10.2 F2 F3
48 arcus senilis 10.2 F11 F3
49 septic myocarditis 10.2 F3 VWF
50 hereditary alpha tryptasemia syndrome 10.1 F2 F3

Graphical network of the top 20 diseases related to Hemophilia a:



Diseases related to Hemophilia a

Symptoms & Phenotypes for Hemophilia a

Symptoms by clinical synopsis from OMIM:

306700

Clinical features from OMIM:

306700

Human phenotypes related to Hemophilia a:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 osteoarthritis 32 HP:0002758
2 abnormal bleeding 32 HP:0001892
3 bruising susceptibility 32 HP:0000978
4 prolonged partial thromboplastin time 32 HP:0003645
5 reduced factor viii activity 32 HP:0003125
6 joint hemorrhage 32 HP:0005261
7 persistent bleeding after trauma 32 HP:0001934

MGI Mouse Phenotypes related to Hemophilia a:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 F10 F11 F2 F3 F5 F7
2 homeostasis/metabolism MP:0005376 9.61 F8 F9 VWF F10 F11 F2
3 mortality/aging MP:0010768 9.28 F10 F11 F2 F3 F5 F7

Drugs & Therapeutics for Hemophilia a

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

(show top 50) (show all 188)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
2
Tranexamic Acid Approved Phase 4 1197-18-8 5526
3
Didanosine Approved Phase 4 69655-05-6 50599
4
Indinavir Approved Phase 4 150378-17-9 5362440
5
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
6
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
7
Zalcitabine Approved Phase 4 7481-89-2 24066
8
Zidovudine Approved Phase 4,Phase 3,Phase 1 30516-87-1 35370
9
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
10
Ribavirin Approved Phase 4,Phase 1 36791-04-5 37542
11
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
12
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
13
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
14
Drospirenone Approved Phase 4,Phase 1,Phase 2 67392-87-4 68873
15
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
16
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1 57-63-6 5991
17
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 797-63-7, 17489-40-6 13109
18
Norgestrel Approved Phase 4 6533-00-2 13109
19
Histamine Approved, Investigational Phase 4 75614-87-8, 51-45-6 774
20
Menthol Approved Phase 4 2216-51-5 16666
21
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
22 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
23 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
24 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1
25 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1
26 Thrombin Phase 4,Phase 2,Phase 3
27 Anti-HIV Agents Phase 4,Phase 3,Phase 1
28 Anti-Infective Agents Phase 4,Phase 3,Phase 1
29 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
30 Anti-Retroviral Agents Phase 4,Phase 3,Phase 1
31 Antiviral Agents Phase 4,Phase 3,Phase 1
32 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
33 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1
34 Antibodies Phase 4,Phase 3,Phase 2,Phase 1
35 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1
36 Antifibrinolytic Agents Phase 4
37 HIV Protease Inhibitors Phase 4,Phase 1
38 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 1
39
protease inhibitors Phase 4,Phase 1
40 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 1
41 Interferon-alpha Phase 4
42 interferons Phase 4
43 Adjuvants, Immunologic Phase 4
44 Hylan Phase 4
45 Protective Agents Phase 4
46 triamcinolone acetonide Phase 4
47 Triamcinolone diacetate Phase 4
48 Triamcinolone hexacetonide Phase 4
49 Viscosupplements Phase 4
50 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 503)
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 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4
3 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
4 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4
5 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4
6 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 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 Pharmacokinetic Comparison of Advate rAHF-PFM With Recombinate rAHF in Patients With Severe Hemophilia A Completed NCT00666406 Phase 4
9 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
10 Combination Therapy of Low Doses of rFVIIa and FEIBA for Severe Hemophilia A Patients With an Inhibitor to Factor VIII Completed NCT00284193 Phase 4
11 Prophylaxis Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00243386 Phase 4
12 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4
13 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4
14 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
15 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
16 Russian Kogenate Pediatric Study Completed NCT00632814 Phase 4
17 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
18 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
19 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4
20 A Comparison Study of Bypassing Agent Therapy With and Without Tranexamic Acid in Haemophilia A Patients With Inhibitor Completed NCT01800435 Phase 4
21 China ADVATE PTP Study Completed NCT02170402 Phase 4
22 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4
23 Study of Safety and Efficacy of Antihemophilic Factor/Von Willebrand Factor Complex in Surgical Subjects With Von Willebrand Disease (vWD) Completed NCT00168090 Phase 4
24 Effect of Indinavir Plus Two Other Anti-HIV Drugs on Blood Clotting in HIV-Positive Males With Hemophilia Completed NCT00002386 Phase 4
25 Safety and Efficacy of Activated Recombinant Human Factor VII in Haemophilia Patients With Inhibitors During and After Major Surgery Completed NCT01561391 Phase 4
26 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
27 A Study of PEGASYS (Peginterferon Alfa-2a (40KD)) Plus Ribavirin in Hemophiliac Patients With Chronic Hepatitis C. Completed NCT00475072 Phase 4
28 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
29 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4
30 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4
31 Investigate Impact of Yasmin vs Microgynon on Hemostasis Parameters in Healthy Women Completed NCT00651846 Phase 4
32 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4
33 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
34 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
35 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4
36 Prospective Registry of European Hemophilia B Patients Receiving BeneFIX® for Usual Use Completed NCT00167973 Phase 4
37 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4
38 Study Evaluating Allergic Reactions To Benefix In Hemophilia B Patients Completed NCT00244114 Phase 4
39 Study to Describe the Allergic Reactions to Factor IX in Patients With Hemophilia B Completed NCT00195221 Phase 4
40 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4
41 Pegasys® Plus Ribavirin in Hemophilic Patients With Hepatitis C Virus Infection Completed NCT00707772 Phase 4
42 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4
43 Safety/Efficacy Study to Assess Whether FVIII/VWF Concentrate Can Induce Immune Tolerance in Haemophilia A Patients Recruiting NCT02479087 Phase 4
44 Multicentre, Non-controlled, Prospective, Post-Marketing Safety Study Following Long-Term Prophylactic OptivateTreatment in Subjects With Severe Haemophilia A Recruiting NCT01811875 Phase 4
45 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Recruiting NCT00555555 Phase 4
46 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Recruiting NCT02999308 Phase 4
47 Efficacy and Safety of Fanhdi®, a High-purity Von Willebrand Containing FVIII Concentrate, in Pediatric Patients With Von Willebrand Disease Recruiting NCT02472665 Phase 4
48 Study of Voncento® in Subjects With Von Willebrand Disease Recruiting NCT02552576 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 a

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


Cochrane evidence based reviews: hemophilia a

Genetic Tests for Hemophilia a

Genetic tests related to Hemophilia a:

id Genetic test Affiliating Genes
1 Hemophilia a 24 F8

Anatomical Context for Hemophilia a

MalaCards organs/tissues related to Hemophilia a:

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

Publications for Hemophilia a

Articles related to Hemophilia a:

(show top 50) (show all 764)
id Title Authors Year
1
Mortality caused by intracranial bleeding in non-severe hemophilia A patients. ( 28374963 )
2017
2
Clinical characteristics and outcomes of acquired hemophilia A: experience at a single center in Japan. ( 28299631 )
2017
3
Iranian Low-dose Escalating Prophylaxis Regimen in Children with Severe Hemophilia A and B. ( 28049359 )
2017
4
Successful total hip replacement with sequential administration of bypassing agents in an adolescent boy with hemophilia A and high inhibitor titers. ( 28079537 )
2017
5
Novel Mutations Resulting in a Moderate to Severe Phenotypic Manifestation of Hemophilia A in a Female. ( 28452855 )
2017
6
Prediction of Intraoperative Blood Loss during Total Knee Arthroplasty in HCV+ and HCV- Patients with Hemophilia A. ( 28361432 )
2017
7
A Case of Hemophilia A Presenting in a Neonate and a Review of the Literature. ( 28321438 )
2017
8
Disappearance of acquired hemophilia A after complete remission in a Multiple Myeloma patient. ( 28077343 )
2017
9
Acquired Hemophilia A in a Patient with Non-Small Cell Lung Carcinoma: A Rare Paraneoplastic Phenomenon. ( 28457068 )
2017
10
Perioperative Considerations in a Patient with Hemophilia A: A Case Report and Review of Literature. ( 28298793 )
2017
11
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
12
Frequency and epitope specificity of anti-factor VIII C1 domain antibodies in acquired and congenital hemophilia A. ( 28507083 )
2017
13
Acquired hemophilia A: a review of recent data and new therapeutic options. ( 28441921 )
2017
14
Single-tube tetradecaplex panel of highly polymorphic microsatellite markers < 1 Mb from F8 for simplified preimplantation genetic diagnosis of hemophilia A. ( 28345288 )
2017
15
Successful Management of Acquired Hemophilia A Associated with Bullous Pemphigoid: A Case Report and Review of the Literature. ( 28458935 )
2017
16
Autoimmune bullous disease and Hashimoto's disease complicated by acquired hemophilia A. ( 28381691 )
2017
17
Acquired hemophilia A: Updated review of evidence and treatment guidance. ( 28470674 )
2017
18
Characterization of AAV-mediated human factor VIII gene therapy in hemophilia A mice. ( 28056565 )
2017
19
Perioperative Coagulation Management of a Hemophilia A Patient During Cardiac Surgery. ( 28388863 )
2017
20
Elucidation of Factor VIII Activity Pharmacokinetics: a Pooled Population Analysis in Hemophilia A Patients Treated with Moroctocog Alfa. ( 28437834 )
2017
21
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
22
Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A. ( 28056528 )
2017
23
Intensity of factor VIII treatment and the development of inhibitors in nonsevere hemophilia A patients: results of the INSIGHT case-control study. ( 28440011 )
2017
24
Regulatory B Cells Are Functionally Impaired in Patients Having Hemophilia A With Inhibitors. ( 28393618 )
2017
25
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
26
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
27
Massive adrenal vein aneurysm mimicking an adrenal tumor in a patient with hemophilia A: a case report and review of the literature. ( 27906086 )
2016
28
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
29
[Detection and genetic counseling of F8 gene inversions for patients with severe hemophilia A]. ( 27455009 )
2016
30
Cost-Effectiveness Analysis of Biogeneric Recombinant Activated Factor VII (AryoSevena8c) and Activated Prothrombin Complex Concentrates (FEIBAa8c) to Treat Hemophilia A Patients with Inhibitors in Iran. ( 27642341 )
2016
31
ACTH therapy for West syndrome with severe hemophilia A. ( 27896066 )
2016
32
Emerging drugs for the treatment of hemophilia A and B. ( 27547884 )
2016
33
Acquired hemophilia A that developed during the induction of hemodialysis: the use of double-filtration plasmapheresisa8c. ( 27545905 )
2016
34
A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect. ( 27066508 )
2016
35
Facial and Scalp Swelling in the Pediatric Population With Hemophilia: A Diagnosis Pitfall. ( 27213025 )
2016
36
Probable Moyamoya Syndrome in Association with Hemophilia A in an Infant. ( 27638653 )
2016
37
Life-threatening hemorrhage from acquired hemophilia A as a presenting manifestation of prostate cancer. ( 27609734 )
2016
38
Severe Hemophilia A in a Male Old English Sheep Dog with a Ca89T Transition that Created a Premature Stop Codon in Factor VIII. ( 27780008 )
2016
39
Anti-factor VIII IgA as a potential marker of poor prognosis in acquired hemophilia A: results from the GTH-AH 01/2010 study. ( 26912467 )
2016
40
Bleeding due to acquired hemophilia A in acute pancreatitis: a case report. ( 26743559 )
2016
41
Targeting Factor VIII expression to platelets for hemophilia A gene therapy does not induce an apparent thrombotic risk in mice. ( 27496751 )
2016
42
Thromboelastography during coronary artery bypass grafting surgery of severe hemophilia A patient - the effect of heparin and protamine on factor VIII activity. ( 27273141 )
2016
43
Non-neutralizing antibodies against factor VIII and risk of inhibitor development in patients with severe hemophilia A. ( 28034891 )
2016
44
Long-term course of anti-factor VIII antibody in patients with hemophilia A at a single center. ( 27104190 )
2016
45
F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association. ( 26897466 )
2016
46
Coexistence of acquired hemophilia A and epidermolysis bullosa acquisita: Two case reports and published work review. ( 27511892 )
2016
47
Successful medical management of a neonate with spontaneous splenic rupture and severe hemophilia A. ( 27178624 )
2016
48
Treatment of bleeding in acquired hemophilia A with the proper administration of recombinant activated factor VII: single-center study of 7 cases. ( 27843336 )
2016
49
Antibody response to recombinant human coagulation factor VIII in a new rat model of severe hemophilia A. ( 26784374 )
2016
50
Two elderly patients with difficult-to-treat acquired hemophilia A. ( 27885231 )
2016

Variations for Hemophilia a

UniProtKB/Swiss-Prot genetic disease variations for Hemophilia a:

66 (show top 50) (show all 472)
id Symbol AA change Variation ID SNP ID
1 F8 p.Leu26Arg VAR_001045 rs137852377
2 F8 p.Glu30Val VAR_001046 rs137852378
3 F8 p.Gly41Cys VAR_001047 rs137852379
4 F8 p.Arg48Cys VAR_001048
5 F8 p.Gly89Asp VAR_001050 rs137852380
6 F8 p.Gly89Val VAR_001051
7 F8 p.Val99Asp VAR_001052 rs28935205
8 F8 p.Val104Asp VAR_001053 rs28935206
9 F8 p.Lys108Thr VAR_001054 rs28935207
10 F8 p.Met110Val VAR_001055 rs28936083
11 F8 p.Leu117Arg VAR_001056 rs28935208
12 F8 p.Glu129Val VAR_001057
13 F8 p.Gly130Arg VAR_001058 rs137852387
14 F8 p.Glu132Asp VAR_001059 rs28935209
15 F8 p.Tyr133Cys VAR_001060 rs28935210
16 F8 p.Asp135Gly VAR_001061 rs28935211
17 F8 p.Thr137Ile VAR_001062 rs137852391
18 F8 p.Gly164Val VAR_001063 rs28935212
19 F8 p.Pro165Ser VAR_001064 rs28935213
20 F8 p.Val181Met VAR_001065 rs137852394
21 F8 p.Lys185Thr VAR_001066 rs137852395
22 F8 p.Ser189Leu VAR_001067 rs137852367
23 F8 p.Asp222Val VAR_001068 rs137852396
24 F8 p.Gly224Trp VAR_001069 rs137852397
25 F8 p.Val253Phe VAR_001070
26 F8 p.Gly266Glu VAR_001071 rs137852398
27 F8 p.Gly278Arg VAR_001072 rs137852399
28 F8 p.Val285Gly VAR_001073 rs137852400
29 F8 p.Glu291Gly VAR_001074 rs137852359
30 F8 p.Thr294Ile VAR_001075 rs137852401
31 F8 p.Asn299Ile VAR_001076 rs28935215
32 F8 p.Arg301His VAR_001077 rs28935216
33 F8 p.Arg301Leu VAR_001078 rs137852403
34 F8 p.Ser308Leu VAR_001079 rs28937268
35 F8 p.Phe312Ser VAR_001080 rs137852405
36 F8 p.Thr314Ala VAR_001081 rs28937269
37 F8 p.Thr314Ile VAR_001082
38 F8 p.Leu327Pro VAR_001083 rs28937270
39 F8 p.Ile331Val VAR_001084
40 F8 p.Val345Leu VAR_001085 rs137852371
41 F8 p.Cys348Arg VAR_001086 rs137852370
42 F8 p.Cys348Ser VAR_001087 rs137852410
43 F8 p.Cys348Tyr VAR_001088
44 F8 p.Arg391Cys VAR_001089 rs137852364
45 F8 p.Arg391His VAR_001090 rs28935499
46 F8 p.Arg391Pro VAR_001091
47 F8 p.Ser392Leu VAR_001092 rs28933668
48 F8 p.Ser392Pro VAR_001093 rs28933669
49 F8 p.Ile405Ser VAR_001094 rs28933670
50 F8 p.Glu409Gly VAR_001095 rs28933671

ClinVar genetic disease variations for Hemophilia a:

6 (show top 50) (show all 268)
id Gene Variation Type Significance SNP ID Assembly Location
1 F8 NM_000132.3(F8): c.6976C> T (p.Arg2326Ter) single nucleotide variant Pathogenic rs137852354 GRCh37 Chromosome X, 154065952: 154065952
2 F8 NM_000132.3(F8): c.6682C> T (p.Arg2228Ter) single nucleotide variant Pathogenic rs137852355 GRCh37 Chromosome X, 154090034: 154090034
3 F8 F8, EX26DEL deletion Pathogenic
4 F8 NM_000132.3(F8): c.6403C> T (p.Arg2135Ter) single nucleotide variant Pathogenic rs137852356 GRCh37 Chromosome X, 154124378: 154124378
5 F8 F8, EX6DEL deletion Pathogenic
6 F8 F8, EX14DEL deletion Pathogenic
7 F8 F8, EX24-25DEL deletion Pathogenic
8 F8 F8, EX23-25DEL deletion Pathogenic
9 F8 F8, EX22DEL deletion Pathogenic
10 F8 F8, EX26DEL deletion Pathogenic
11 F8 F8, EX1DEL deletion Pathogenic
12 F8 NM_000132.3(F8): c.6496C> T (p.Arg2166Ter) single nucleotide variant Pathogenic rs137852357 GRCh37 Chromosome X, 154091436: 154091436
13 F8 NM_000132.3(F8): c.601+1632G> A single nucleotide variant Pathogenic rs387906429 GRCh37 Chromosome X, 154219579: 154219579
14 F8 NM_000132.3(F8): c.6683G> A (p.Arg2228Gln) single nucleotide variant Pathogenic rs137852358 GRCh37 Chromosome X, 154090033: 154090033
15 F8 NM_000132.3(F8): c.872A> G (p.Glu291Gly) single nucleotide variant Pathogenic rs137852359 GRCh37 Chromosome X, 154197743: 154197743
16 F8 F8, EX2-3DEL deletion Pathogenic
17 F8 F8, EX3-13DEL deletion Pathogenic
18 F8 F8, EX4-25DEL deletion Pathogenic
19 F8 F8, EX7-14DEL deletion Pathogenic
20 F8 F8, EX26DEL deletion Pathogenic
21 F8 F8, LINE INS, EX14 insertion Pathogenic
22 F8 F8, EX15DEL deletion Pathogenic
23 F8 F8, 2-BP DEL, EX8 deletion Pathogenic
24 F8 NM_000132.3(F8): c.6977G> T (p.Arg2326Leu) single nucleotide variant Pathogenic rs137852360 GRCh37 Chromosome X, 154065951: 154065951
25 F8 NM_000132.3(F8): c.5879G> A (p.Arg1960Gln) single nucleotide variant Pathogenic rs28937294 GRCh37 Chromosome X, 154132300: 154132300
26 F8 NM_000132.3(F8): c.5113C> T (p.Gln1705Ter) single nucleotide variant Pathogenic rs137852361 GRCh37 Chromosome X, 154156952: 154156952
27 F8 F8, EX14DEL deletion Pathogenic
28 F8 NM_000132.3(F8): c.5122C> T (p.Arg1708Cys) single nucleotide variant Pathogenic rs111033613 GRCh37 Chromosome X, 154156943: 154156943
29 F8 NM_000132.3(F8): c.5096A> T (p.Tyr1699Phe) single nucleotide variant Pathogenic rs28935203 GRCh37 Chromosome X, 154156969: 154156969
30 F8 NM_000132.3(F8): c.5183A> G (p.Tyr1728Cys) single nucleotide variant Pathogenic rs137852362 GRCh37 Chromosome X, 154156882: 154156882
31 F8 F8, EX11-18DEL deletion Pathogenic
32 F8 NM_000132.3(F8): c.5878C> T (p.Arg1960Ter) single nucleotide variant Pathogenic rs137852363 GRCh37 Chromosome X, 154132301: 154132301
33 F8 F8, EX3DEL deletion Pathogenic
34 F8 F8, EX1-5DEL deletion Pathogenic
35 F8 F8, EX1-22DEL deletion Pathogenic
36 F8 F8, EX26DEL deletion Pathogenic
37 F8 F8, EX1-26DEL deletion Pathogenic
38 F8 NM_000132.3(F8): c.1171C> T (p.Arg391Cys) single nucleotide variant Pathogenic rs137852364 GRCh37 Chromosome X, 154194801: 154194801
39 F8 NM_000132.3(F8): c.6977G> A (p.Arg2326Gln) single nucleotide variant Pathogenic rs137852360 GRCh37 Chromosome X, 154065951: 154065951
40 F8 NM_000132.3(F8): c.6554T> C (p.Leu2185Ser) single nucleotide variant Pathogenic rs137852365 GRCh37 Chromosome X, 154091378: 154091378
41 F8 NM_000132.3(F8): c.6404G> C (p.Arg2135Pro) single nucleotide variant Pathogenic rs137852366 GRCh37 Chromosome X, 154124377: 154124377
42 F8 NM_000132.3(F8): c.566C> T (p.Ser189Leu) single nucleotide variant Pathogenic rs137852367 GRCh37 Chromosome X, 154221246: 154221246
43 F8 F8, EX15-18DEL deletion Pathogenic
44 F8 NM_000132.3(F8): c.2114-?_5219+?del (p.?) deletion Pathogenic GRCh37 Chromosome X, 154134848: 154175973
45 F8 F8, EX23-25DEL deletion Pathogenic
46 F8 F8, EX14DEL deletion Pathogenic
47 F8 F8, EX7-9DEL deletion Pathogenic
48 F8 F8, EX5DEL deletion Pathogenic
49 F8 F8, EX5DEL deletion Pathogenic
50 F8 F8, EX5DEL deletion Pathogenic

Copy number variations for Hemophilia a from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 260219 X 146900000 154913754 Deletion F8 Hemophilia A
2 260222 X 146900000 154913754 Deletion MPP1 Hemophilia A
3 260242 X 146900000 154913754 Inversion F8 Hemophilia A

Expression for Hemophilia a

Search GEO for disease gene expression data for Hemophilia a.

Pathways for Hemophilia a

Pathways related to Hemophilia a according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.31 F10 F2 F5 F7 F8 F9
2
Show member pathways
12.99 F10 F11 F2 F3 F5 F7
3
Show member pathways
12.48 F10 F11 F2 F3 F5 F7
4 11.75 F10 F11 F2 F3 F5 F7
5
Show member pathways
11.7 F10 F2 F7 F9
6
Show member pathways
11.48 F10 F11 F2 F3 F5 F7
7 11.14 F2 VWF
8 10.8 F10 F2 F7 F9

GO Terms for Hemophilia a

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.8 F11 F2 F3 F5 F7 F8
2 extracellular region GO:0005576 9.61 F10 F11 F2 F3 F5 F7
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 F11 F2 F3 F5 F7

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.98 F10 F11 F2 F5 F7 F8
2 ER to Golgi vesicle-mediated transport GO:0006888 9.85 F10 F2 F5 F7 F8 F9
3 blood coagulation GO:0007596 9.81 F10 F11 F2 F3 F5 F7
4 platelet activation GO:0030168 9.76 F2 F5 F8 VWF
5 positive regulation of cell migration GO:0030335 9.74 F10 F3 F7
6 platelet degranulation GO:0002576 9.72 F5 F8 VWF
7 signal peptide processing GO:0006465 9.71 F10 F2 F7 F9
8 positive regulation of protein kinase B signaling GO:0051897 9.69 F10 F3 F7
9 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
10 hemostasis GO:0007599 9.61 F10 F11 F2 F3 F5 F7
11 acute-phase response GO:0006953 9.58 F2 F8
12 regulation of blood coagulation GO:0030193 9.56 F11 F2
13 blood coagulation, extrinsic pathway GO:0007598 9.56 F10 F3 F7 F9
14 positive regulation of blood coagulation GO:0030194 9.54 F2 F7
15 positive regulation of positive chemotaxis GO:0050927 9.52 F3 F7
16 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F3 F7
17 response to vitamin K GO:0032571 9.48 F5 F7
18 blood coagulation, intrinsic pathway GO:0007597 9.1 F10 F11 F2 F8 F9 VWF

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.72 F10 F11 F2 F7 F9
2 calcium ion binding GO:0005509 9.56 F10 F2 F7 F9
3 peptidase activity GO:0008233 9.55 F10 F11 F2 F7 F9
4 copper ion binding GO:0005507 9.37 F5 F8
5 serine-type peptidase activity GO:0008236 9.35 F10 F11 F2 F7 F9
6 serine-type endopeptidase activity GO:0004252 9.23 F10 F11 F2 F3 F5 F7

Sources for Hemophilia a

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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