MCID: HMP029
MIFTS: 68

Hemophilia a

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Hemophilia a

MalaCards integrated aliases for Hemophilia a:

Name: Hemophilia a 57 76 24 53 59 75 13 55 40 73
Factor Viii Deficiency 24 53 59 75 73
Hemophilia, Classic 57 53
Factor 8 Deficiency 53 75
Classic Hemophilia 53 75
Hema 57 75
Hemophilia a, Congenital 53
Classical Hemophilia 53
Haemophilia a 53
Factor Viii 6
Hem a 53

Characteristics:

Orphanet epidemiological data:

59
hemophilia a
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (France),1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
persistent bleeding after trauma
partial factor viii deficiency in heterozygous carriers

Inheritance:
x-linked recessive


HPO:

32
hemophilia a:
Inheritance x-linked recessive inheritance


GeneReviews:

24
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 57 306700
Orphanet 59 ORPHA98878
ICD10 via Orphanet 34 D66
MESH via Orphanet 45 D006467
UMLS via Orphanet 74 C0019069 C3494187
MeSH 44 D006467
UMLS 73 C3494187

Summaries for Hemophilia a

OMIM : 57 Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (193400), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001). (306700)

MalaCards based summary : Hemophilia a, also known as factor viii deficiency, is related to severe hemophilia a and mild hemophilia a. An important gene associated with Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Copper and Drospirenone have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain, and related phenotypes are joint swelling and arthralgia

NIH Rare Diseases : 53 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.

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased... more...

GeneReviews: NBK1404

Related Diseases for Hemophilia a

Diseases in the Hemophilia family:

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

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

(show top 50) (show all 211)
# Related Disease Score Top Affiliating Genes
1 severe hemophilia a 33.1 F3 F5 F8
2 mild hemophilia a 32.8 F10 F8 VWF
3 von willebrand disease, type 3 32.4 F8 VWF
4 acquired hemophilia a 31.8 F11 F3 F5 F8 F9
5 factor viii deficiency 31.8 F11 F5 F8 VWF
6 hemophilia 31.4 F3 F7 F8 F9 VWF
7 von willebrand disease, type 1 31.2 F3 F8 VWF
8 von willebrand disease, type 2 31.0 F7 F8 VWF
9 cardiac tamponade 30.3 F8 F9
10 thrombotic thrombocytopenic purpura 29.4 F3 VWF
11 purpura 29.4 F3 VWF
12 portal vein thrombosis 29.2 F5 F7
13 factor xi deficiency 29.1 F11 F3 F9
14 hemophilia b 28.9 F10 F11 F3 F7 F8 F9
15 factor xii deficiency 28.2 F3 F5 F9 VWF
16 stroke, ischemic 27.9 F3 F5 F7 VWF
17 von willebrand's disease 27.7 F11 F3 F5 F8 F9 VWF
18 factor vii deficiency 27.7 F10 F3 F7 F8 F9
19 acquired hemophilia 27.7 F10 F11 F3 F5 F8 F9
20 hemarthrosis 27.6 F10 F7 F8 F9 VWF
21 pulmonary embolism 27.5 F10 F3 F5 F9
22 thrombosis 27.2 F10 F3 F5 F9 VWF
23 thrombophilia due to thrombin defect 27.0 F10 F3 F5 F8 VWF
24 myocardial infarction 25.1 F10 F11 F3 F5 F7 F8
25 factor x deficiency 24.9 F10 F11 F3 F5 F7 F9
26 hemorrhagic disease 24.5 F10 F11 F3 F5 F7 F8
27 thrombophilia 24.5 F10 F11 F3 F5 F7 F8
28 moderately severe hemophilia a 12.2
29 hemophilia a with vascular abnormality 12.1
30 symptomatic form of hemophilia a in female carriers 12.0
31 immunodeficiency 32a 11.2
32 fournier gangrene 10.6 F3 F8
33 fainting 10.5 F8 VWF
34 multicentric castleman disease 10.5 F3 F8
35 cerebral arteritis 10.5 F8 VWF
36 qualitative platelet defect 10.4 F3 VWF
37 lymphangiosarcoma 10.4 F8 VWF
38 angina pectoris 10.4 F3 VWF
39 korean hemorrhagic fever 10.4 F3 VWF
40 hepatic veno-occlusive disease 10.4 F3 F8
41 anterior cranial fossa meningioma 10.3 F3 F7
42 coronary thrombosis 10.3 F3 VWF
43 factor v and factor viii, combined deficiency of, 2 10.3 F5 F8
44 x-linked disease 10.3 F8 F9
45 lemierre's syndrome 10.3 F11 F3
46 malignant skin fibrous histiocytoma 10.3 F7 F9
47 retinal artery occlusion 10.3 F5 F8
48 thrombophlebitis 10.3 F5 F8
49 malignant dermis tumor 10.2 F7 F9
50 carotid artery occlusion 10.2 F5 F8

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



Diseases related to Hemophilia a

Symptoms & Phenotypes for Hemophilia a

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
degenerative joint disease
hemarthroses

Skin Nails Hair Skin:
ecchymoses common
petechiae and purpura do not occur

Laboratory Abnormalities:
factor viii deficiency
platelet count normal
ptt prolonged
pt normal
bleeding time normal
more

Clinical features from OMIM:

306700

Human phenotypes related to Hemophilia a:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 59 32 hallmark (90%) Very frequent (99-80%) HP:0001386
2 arthralgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002829
3 reduced factor viii activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0003125
4 joint hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0005261
5 bleeding with minor or no trauma 59 32 hallmark (90%) Very frequent (99-80%) HP:0011889
6 thromboembolism 59 32 frequent (33%) Frequent (79-30%) HP:0001907
7 spontaneous hematomas 59 32 frequent (33%) Frequent (79-30%) HP:0007420
8 oral cavity bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0030140
9 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
10 abnormality of the elbow 59 32 occasional (7.5%) Occasional (29-5%) HP:0009811
11 intramuscular hematoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012233
12 intraventricular hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0030746
13 splenic rupture 59 32 very rare (1%) Very rare (<4-1%) HP:0012223
14 intracranial hemorrhage 59 Very rare (<4-1%)
15 bruising susceptibility 32 HP:0000978
16 persistent bleeding after trauma 32 HP:0001934
17 osteoarthritis 32 HP:0002758
18 prolonged partial thromboplastin time 32 HP:0003645

MGI Mouse Phenotypes related to Hemophilia a:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 F10 F11 F3 F5 F7 F9
2 homeostasis/metabolism MP:0005376 9.56 F9 VWF F10 F11 F3 F5
3 mortality/aging MP:0010768 9.23 F10 F11 F3 F5 F7 F8

Drugs & Therapeutics for Hemophilia a

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

(show top 50) (show all 235)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved, Investigational Phase 4 7440-50-8 27099
2
Drospirenone Approved Phase 4,Phase 1,Phase 2 67392-87-4 68873
3
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
4 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 979-32-8
5
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 57-63-6 5991
6
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 797-63-7, 17489-40-6 13109
7
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
8
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
9
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
10
Tranexamic Acid Approved Phase 4,Not Applicable 1197-18-8 5526
11
Didanosine Approved Phase 4 69655-05-6 50599
12
Indinavir Approved Phase 4 150378-17-9 5362440
13
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
14
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
15
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
16
Zidovudine Approved Phase 4,Phase 3,Phase 1,Not Applicable 30516-87-1 35370
17
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
18
Ribavirin Approved Phase 4,Phase 1 36791-04-5 37542
19
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
20
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
21
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
22
Norgestrel Approved Phase 4 6533-00-2 13109
23
Aminocaproic Acid Approved, Investigational Phase 4 60-32-2 564
24
Dalteparin Approved Phase 4,Phase 1,Not Applicable 9005-49-6
25
Heparin Approved, Investigational Phase 4,Phase 1,Not Applicable 9005-49-6 772 46507594
26 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
27 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
28 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
29 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Contraceptives, Oral, Combined Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
32 diuretics Phase 4,Phase 1,Phase 2
33 Diuretics, Potassium Sparing Phase 4,Phase 1,Phase 2
34 Drospirenone and ethinyl estradiol combination Phase 4
35 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Micronutrients Phase 4,Phase 2,Not Applicable
42 Mineralocorticoid Receptor Antagonists Phase 4,Phase 1,Phase 2
43 Mineralocorticoids Phase 4,Phase 1,Phase 2
44 Natriuretic Agents Phase 4,Phase 2,Phase 1
45 Trace Elements Phase 4,Phase 2,Not Applicable
46 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Anti-HIV Agents Phase 4,Phase 3,Phase 1,Not Applicable
48 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Not Applicable
49 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Anti-Retroviral Agents Phase 4,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 581)
# 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 Comparison of Levonorgestrel Intrauterine System, Copper T Intrauterine Device and Oral Contraceptives on Life Quality Unknown status NCT01805817 Phase 4 YASMIN® (Drospirenone/Ethinyl Estradiol)
3 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
4 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
5 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
6 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 Phase 4
7 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
8 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)
9 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)
10 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
11 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4 ReFacto;Advante
12 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
13 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
14 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 Phase 4
15 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
16 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
17 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)
18 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
19 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
20 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
21 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
22 China ADVATE PTP Study Completed NCT02170402 Phase 4
23 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
24 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
25 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
26 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
27 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
28 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
29 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
30 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
31 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
32 Investigate Impact of Yasmin vs Microgynon on Hemostasis Parameters in Healthy Women Completed NCT00651846 Phase 4 Yasmin (DRSP 3mg/EE 0.03 mg);Microgynon (LNG 0.15 mg/EE 0.03 mg)
33 Study of Voncento® in Subjects With Von Willebrand Disease Completed NCT02552576 Phase 4
34 Platelet Function And Aggregometry In Patients With Aortic Valve Stenosis Completed NCT00156520 Phase 4 aprotonin; epsilon aminocaproic acid
35 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
36 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
37 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
38 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
39 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
40 A Comparison of Dermal Autograft to AlloDerm in Breast Reconstruction Completed NCT01561287 Phase 4
41 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)
42 Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer Completed NCT01741506 Phase 4 Dalteparin (Fragmin®)
43 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
44 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
45 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
46 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Recruiting NCT03103542 Phase 4
47 Study of Emicizumab Prophylaxis in Participants With Hemophilia A and Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
48 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
49 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
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 (verITI-8 Study) Recruiting NCT03093480 Phase 4

Search NIH Clinical Center for Hemophilia a

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


Genetic Tests for Hemophilia a

Anatomical Context for Hemophilia a

MalaCards organs/tissues related to Hemophilia a:

41
Liver, Testes, Brain, Bone, Breast, Lung, T Cells

Publications for Hemophilia a

Articles related to Hemophilia a:

(show top 50) (show all 945)
# Title Authors Year
1
Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the<i>F8</i>gene. ( 29386375 )
2018
2
Treatment Regimens with Bypassing Agents in Patients with Hemophilia A and Inhibitors: A Survey from the Italian Association of Hemophilia Centers (AICE). ( 29723892 )
2018
3
Modified Primary Prophylaxis in Previously Untreated Patients With Severe Hemophilia A in Iran. ( 29356759 )
2018
4
Successful endoscopic sphincterotomy for choledocholithiasis in a patient with severe hemophilia A and inhibitors. ( 29396835 )
2018
5
Replacement therapy for coronary artery bypass surgery in patients with hemophilia A and B. ( 29439283 )
2018
6
Novel therapies and current clinical progress in hemophilia A. ( 29387330 )
2018
7
Cost analysis of plasma-derived factor VIII/von Willebrand factor versus recombinant factor VIII for treatment of previously untreated patients with severe hemophilia A in the United States. ( 29681200 )
2018
8
Inhibitor Formation in Congenital Hemophilia A: an Immunological Perspective. ( 29864775 )
2018
9
Assessment of Relative Bioavailability of Moroctocog Alfa and Moroctocog Alfa (AF-CC) in Subjects With Severe Hemophilia A. ( 29575770 )
2018
10
Dexamethasone promotes durable factor VIII -specific tolerance in hemophilia A mice via thymic mechanisms. ( 29674503 )
2018
11
Analyses of the FranceCoag cohort support differences in immunogenicity among one plasma-derived and two recombinant factor VIII brands in boys with severe hemophilia A. ( 29025913 )
2018
12
A Case of Acquired Hemophilia A: Usefulness of Various Methods for Judging Mixing Test Results for Monitoring the Effect of Immunosuppressive Therapy. ( 29739073 )
2018
13
Successful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A. ( 29589344 )
2018
14
The rare coexistence of high titer inhibitor development and gastrointestinal stromal tumor in a patient with severe hemophilia: A case report. ( 29724628 )
2018
15
Risk of major comorbidities among workers with hemophilia: A 14-year population-based study. ( 29419677 )
2018
16
The Development of Acute Systemic Multiple Thrombosis after Achieving Remission during Systemic Glucocorticoid Therapy for Acquired Hemophilia A. ( 29526954 )
2018
17
Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report. ( 29383626 )
2018
18
Can the plasmaderived factor VIII still play a role in the treatment of acquired hemophilia A at the time of new drugs? ( 29608457 )
2018
19
Desmopressin in moderate hemophilia A patients: a treatment worth considering. ( 29305412 )
2018
20
Pharmacokinetic Studies of Factor VIII in Chinese Boys with Severe Hemophilia A: A Single-Center Study. ( 29848837 )
2018
21
Homeopathic Medicine Reduces Pain and Hemarthrosis in Moderate and Severe Hemophilia: A Multicentric Study. ( 29807367 )
2018
22
The evolving understanding of factor VIII binding sites and implications for the treatment of hemophilia A. ( 29866493 )
2018
23
Successful management of concurrent acquired hemophilia A and a lupus anticoagulant in a pediatric hematopoietic stem cell transplant patient. ( 29330401 )
2018
24
Inhibitor Risk Stratification and Individualized Treatment in Patients With Nonsevere Hemophilia A: A Single-Institution Practice Audit. ( 29108420 )
2018
25
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. ( 29357978 )
2018
26
Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature. ( 29780157 )
2018
27
Recombinant factor VIII: past, present and future of treatment of hemophilia A. ( 29869648 )
2018
28
Correction: Optimization of prophylaxis for hemophilia A. ( 29709032 )
2018
29
Risk factors for inhibitor development in severe hemophilia a. ( 29879570 )
2018
30
Subcutaneous Administration of Lyso-Phosphatidylserine Nanoparticles Induces Immunological Tolerance Towards Factor VIII in a Hemophilia A Mouse Model. ( 29981412 )
2018
31
Acquired hemophilia A associated with autoimmune pancreatitis with serum IgG4 elevation. ( 29582334 )
2018
32
Ethnicity-specific impact of HLA I/II genotypes on the risk of inhibitor development: data from Korean patients with severe hemophilia A. ( 29766236 )
2018
33
F8 inversions of introns 22 and 1 confer a moderate risk of inhibitors in Mexican patients with severe hemophilia A. Concordance analysis and literature review. ( 29544691 )
2018
34
Optimization of prophylaxis for hemophilia A. ( 29447219 )
2018
35
Newly Diagnosed Acquired Hemophilia A Manifesting as Massive Intracranial Hemorrhage Following a Neurosurgical Procedure. ( 29253693 )
2018
36
Liver transplantation in hemophilia A and von Willebrand disease type 3: perioperative management and post-transplant outcome. ( 29931985 )
2018
37
Anti-C1 Domain Antibodies That Accelerate Factor VIII Clearance Contribute to Antibody Pathogenicity in a Murine Hemophilia A Model. ( 29981270 )
2018
38
Pulpotomy management using laser diode in pediatric patient with severe hemophilia A under general anesthesia-A case report. ( 29537665 )
2018
39
Inhibitors in Nonsevere Hemophilia A: What Is Known and Searching for the Unknown. ( 29439277 )
2018
40
Oxidation of factor VIII increases its immunogenicity in mice with severe hemophilia A. ( 29395036 )
2018
41
FVIII p.Arg1800His mutation is associated with mild/moderate hemophilia A in Chinese population. ( 29756390 )
2018
42
Minimally Invasive Aortic Valve Replacement in a Patient With Severe Hemophilia A. ( 28153454 )
2017
43
Acquired Hemophilia A After Hepatic Yttrium-90 Radioembolization: A Case Report. ( 28767473 )
2017
44
Autoimmune bullous disease and Hashimoto's disease complicated by acquired hemophilia A. ( 28381691 )
2017
45
Safety, efficacy and pharmacokinetics of rVIII-SingleChain in children with severe hemophilia A: results of a multicenter clinical trial. ( 28166608 )
2017
46
Single-tube tetradecaplex panel of highly polymorphic microsatellite markers &amp;lt; 1 Mb from F8 for simplified preimplantation genetic diagnosis of hemophilia A. ( 28345288 )
2017
47
AAV5-Factor VIII Gene Transfer in Severe Hemophilia A. ( 29224506 )
2017
48
Acquired Hemophilia A in an advanced age patient of hispanic origin: a case report. ( 28870236 )
2017
49
Bleeding risk assessment in hemophilia A carriers from Dakar, Senegal. ( 28731872 )
2017
50
Frequency and epitope specificity of anti-factor VIII C1 domain antibodies in acquired and congenital hemophilia A. ( 28507083 )
2017

Variations for Hemophilia a

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

75 (show top 50) (show all 472)
# 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 rs137852382
8 F8 p.Val104Asp VAR_001053 rs137852383
9 F8 p.Lys108Thr VAR_001054 rs137852384
10 F8 p.Met110Val VAR_001055 rs137852385
11 F8 p.Leu117Arg VAR_001056 rs137852386
12 F8 p.Glu129Val VAR_001057
13 F8 p.Gly130Arg VAR_001058 rs137852387
14 F8 p.Glu132Asp VAR_001059 rs137852388
15 F8 p.Tyr133Cys VAR_001060 rs137852389
16 F8 p.Asp135Gly VAR_001061 rs137852390
17 F8 p.Thr137Ile VAR_001062 rs137852391
18 F8 p.Gly164Val VAR_001063 rs137852392
19 F8 p.Pro165Ser VAR_001064 rs137852393
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 rs137852402
32 F8 p.Arg301His VAR_001077 rs137852403
33 F8 p.Arg301Leu VAR_001078 rs137852403
34 F8 p.Ser308Leu VAR_001079 rs137852404
35 F8 p.Phe312Ser VAR_001080 rs137852405
36 F8 p.Thr314Ala VAR_001081 rs137852406
37 F8 p.Thr314Ile VAR_001082
38 F8 p.Leu327Pro VAR_001083 rs137852407
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 474)
# 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.6976C> T (p.Arg2326Ter) single nucleotide variant Pathogenic rs137852354 GRCh38 Chromosome X, 154837677: 154837677
3 F8 NM_000132.3(F8): c.6682C> T (p.Arg2228Ter) single nucleotide variant Pathogenic rs137852355 GRCh37 Chromosome X, 154090034: 154090034
4 F8 NM_000132.3(F8): c.6682C> T (p.Arg2228Ter) single nucleotide variant Pathogenic rs137852355 GRCh38 Chromosome X, 154861759: 154861759
5 F8 F8, EX26DEL deletion Pathogenic
6 F8 NM_000132.3(F8): c.6403C> T (p.Arg2135Ter) single nucleotide variant Pathogenic rs137852356 GRCh37 Chromosome X, 154124378: 154124378
7 F8 NM_000132.3(F8): c.6403C> T (p.Arg2135Ter) single nucleotide variant Pathogenic rs137852356 GRCh38 Chromosome X, 154896103: 154896103
8 F8 F8, EX6DEL deletion Pathogenic
9 F8 F8, EX14DEL deletion Pathogenic
10 F8 F8, EX24-25DEL deletion Pathogenic
11 F8 F8, EX23-25DEL deletion Pathogenic
12 F8 F8, EX22DEL deletion Pathogenic
13 F8 F8, EX26DEL deletion Pathogenic
14 F8 F8, EX1DEL deletion Pathogenic
15 F8 NM_000132.3(F8): c.6496C> T (p.Arg2166Ter) single nucleotide variant Pathogenic rs137852357 GRCh37 Chromosome X, 154091436: 154091436
16 F8 NM_000132.3(F8): c.6496C> T (p.Arg2166Ter) single nucleotide variant Pathogenic rs137852357 GRCh38 Chromosome X, 154863161: 154863161
17 F8 NM_000132.3(F8): c.601+1632G> A single nucleotide variant Pathogenic rs387906429 GRCh37 Chromosome X, 154219579: 154219579
18 F8 NM_000132.3(F8): c.601+1632G> A single nucleotide variant Pathogenic rs387906429 GRCh38 Chromosome X, 154991304: 154991304
19 F8 NM_000132.3(F8): c.6683G> A (p.Arg2228Gln) single nucleotide variant Pathogenic rs137852358 GRCh37 Chromosome X, 154090033: 154090033
20 F8 NM_000132.3(F8): c.6683G> A (p.Arg2228Gln) single nucleotide variant Pathogenic rs137852358 GRCh38 Chromosome X, 154861758: 154861758
21 F8 NM_000132.3(F8): c.872A> G (p.Glu291Gly) single nucleotide variant Pathogenic rs137852359 GRCh37 Chromosome X, 154197743: 154197743
22 F8 NM_000132.3(F8): c.872A> G (p.Glu291Gly) single nucleotide variant Pathogenic rs137852359 GRCh38 Chromosome X, 154969468: 154969468
23 F8 F8, EX2-3DEL deletion Pathogenic
24 F8 F8, EX3-13DEL deletion Pathogenic
25 F8 F8, EX4-25DEL deletion Pathogenic
26 F8 F8, EX7-14DEL deletion Pathogenic
27 F8 F8, EX26DEL deletion Pathogenic
28 F8 F8, LINE INS, EX14 insertion Pathogenic
29 F8 F8, EX15DEL deletion Pathogenic
30 F8 F8, 2-BP DEL, EX8 deletion Pathogenic
31 F8 NM_000132.3(F8): c.6977G> T (p.Arg2326Leu) single nucleotide variant Pathogenic rs137852360 GRCh37 Chromosome X, 154065951: 154065951
32 F8 NM_000132.3(F8): c.6977G> T (p.Arg2326Leu) single nucleotide variant Pathogenic rs137852360 GRCh38 Chromosome X, 154837676: 154837676
33 F8 NM_000132.3(F8): c.5879G> A (p.Arg1960Gln) single nucleotide variant Pathogenic rs28937294 GRCh37 Chromosome X, 154132300: 154132300
34 F8 NM_000132.3(F8): c.5879G> A (p.Arg1960Gln) single nucleotide variant Pathogenic rs28937294 GRCh38 Chromosome X, 154904025: 154904025
35 F8 NM_000132.3(F8): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic rs28935499 GRCh37 Chromosome X, 154194800: 154194800
36 F8 NM_000132.3(F8): c.1172G> A (p.Arg391His) single nucleotide variant Pathogenic rs28935499 GRCh38 Chromosome X, 154966525: 154966525
37 F8 NM_000132.3(F8): c.5113C> T (p.Gln1705Ter) single nucleotide variant Pathogenic rs137852361 GRCh37 Chromosome X, 154156952: 154156952
38 F8 NM_000132.3(F8): c.5113C> T (p.Gln1705Ter) single nucleotide variant Pathogenic rs137852361 GRCh38 Chromosome X, 154928677: 154928677
39 F8 F8, EX14DEL deletion Pathogenic
40 F8 NM_000132.3(F8): c.5122C> T (p.Arg1708Cys) single nucleotide variant Pathogenic rs111033613 GRCh37 Chromosome X, 154156943: 154156943
41 F8 NM_000132.3(F8): c.5122C> T (p.Arg1708Cys) single nucleotide variant Pathogenic rs111033613 GRCh38 Chromosome X, 154928668: 154928668
42 F8 NM_000132.3(F8): c.5096A> T (p.Tyr1699Phe) single nucleotide variant Pathogenic rs28935203 GRCh37 Chromosome X, 154156969: 154156969
43 F8 NM_000132.3(F8): c.5096A> T (p.Tyr1699Phe) single nucleotide variant Pathogenic rs28935203 GRCh38 Chromosome X, 154928694: 154928694
44 F8 NM_000132.3(F8): c.5183A> G (p.Tyr1728Cys) single nucleotide variant Pathogenic rs137852362 GRCh37 Chromosome X, 154156882: 154156882
45 F8 NM_000132.3(F8): c.5183A> G (p.Tyr1728Cys) single nucleotide variant Pathogenic rs137852362 GRCh38 Chromosome X, 154928607: 154928607
46 F8 F8, EX11-18DEL deletion Pathogenic
47 F8 NM_000132.3(F8): c.5878C> T (p.Arg1960Ter) single nucleotide variant Pathogenic rs137852363 GRCh37 Chromosome X, 154132301: 154132301
48 F8 NM_000132.3(F8): c.5878C> T (p.Arg1960Ter) single nucleotide variant Pathogenic rs137852363 GRCh38 Chromosome X, 154904026: 154904026
49 F8 F8, EX3DEL deletion Pathogenic
50 F8 F8, EX1-5DEL deletion Pathogenic

Copy number variations for Hemophilia a from CNVD:

7
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 F10 F11 F3 F5 F7 F8
2
Show member pathways
12.42 F10 F11 F3 F5 F7 F8
3 11.7 F10 F11 F3 F5 F7 F8
4
Show member pathways
11.58 F10 F7 F9
5
Show member pathways
11.43 F10 F11 F3 F5 F7 F8
6 10.67 F10 F7 F9

GO Terms for Hemophilia a

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.85 F11 F3 F5 F7 F8 F9
2 Golgi lumen GO:0005796 9.58 F10 F7 F9
3 platelet alpha granule lumen GO:0031093 9.5 F5 F8 VWF
4 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 9.49 F5 F8
5 COPII-coated ER to Golgi transport vesicle GO:0030134 9.46 F5 F8
6 platelet alpha granule GO:0031091 9.43 F5 VWF
7 endoplasmic reticulum lumen GO:0005788 9.35 F10 F5 F7 F8 F9
8 intrinsic component of external side of plasma membrane GO:0031233 9.26 F10 F3
9 extracellular region GO:0005576 9.23 F10 F11 F3 F5 F7 F8
10 serine-type peptidase complex GO:1905286 9.16 F3 F7
11 plasma membrane GO:0005886 10.02 F10 F11 F3 F5 F7 F8

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.83 F10 F11 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.72 F10 F5 F7 F8 F9
3 positive regulation of cell migration GO:0030335 9.69 F10 F3 F7
4 positive regulation of protein kinase B signaling GO:0051897 9.67 F10 F3 F7
5 platelet degranulation GO:0002576 9.65 F5 F8 VWF
6 signal peptide processing GO:0006465 9.58 F10 F7 F9
7 blood coagulation, extrinsic pathway GO:0007598 9.56 F10 F3 F7 F9
8 blood coagulation GO:0007596 9.56 F10 F11 F3 F5 F7 F8
9 protein processing GO:0016485 9.55 F3 F7
10 blood coagulation, intrinsic pathway GO:0007597 9.55 F10 F11 F8 F9 VWF
11 COPII vesicle coating GO:0048208 9.54 F5 F8
12 peptidyl-glutamic acid carboxylation GO:0017187 9.54 F10 F7 F9
13 positive regulation of positive chemotaxis GO:0050927 9.46 F3 F7
14 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.43 F3 F7
15 hemostasis GO:0007599 9.23 F10 F11 F3 F5 F7 F8

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.46 F10 F11 F7 F9
2 copper ion binding GO:0005507 9.26 F5 F8
3 serine-type peptidase activity GO:0008236 9.26 F10 F11 F7 F9
4 serine-type endopeptidase activity GO:0004252 9.02 F10 F11 F3 F7 F9

Sources for Hemophilia a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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