Aliases & Classifications for Factor Viii Deficiency

MalaCards integrated aliases for Factor Viii Deficiency:

Name: Factor Viii Deficiency 57 12 76 29 15 73
Hemophilia a 12 44 73
Autosomal Hemophilia a 57 73
Congenital Factor Viii Disorder 12
Subhemophilia 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? von willebrand disease variant


HPO:

32
factor viii deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 134500
Disease Ontology 12 DOID:12134
ICD10 33 D66
ICD9CM 35 286.0
MeSH 44 D006467
NCIt 50 C27146
SNOMED-CT 68 28293008
MedGen 42 C3494187

Summaries for Factor Viii Deficiency

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.

MalaCards based summary : Factor Viii Deficiency, also known as hemophilia a, is related to mild hemophilia a and severe hemophilia a. An important gene associated with Factor Viii Deficiency is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. The drugs Thrombin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and liver, and related phenotypes are abnormal bleeding and reduced factor viii activity

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

Description from OMIM: 134500

Related Diseases for Factor Viii Deficiency

Diseases related to Factor Viii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 123)
# Related Disease Score Top Affiliating Genes
1 mild hemophilia a 33.2 F8 VWF
2 severe hemophilia a 32.0 F2 F5 F8
3 hemophilia a 31.8 F11 F5 F8 VWF
4 acquired hemophilia a 31.6 F11 F5 F8
5 hemophilia b 30.8 F11 F2 F8
6 compartment syndrome 29.5 F2 F8
7 factor vii deficiency 29.4 F2 F8
8 factor xi deficiency 29.2 F11 F2
9 thrombosis 28.4 F2 F5 VWF
10 hemophilia 27.9 F2 F8 LMAN1 MCFD2 VWF
11 thrombophilia due to thrombin defect 27.8 F2 F5 F8 VWF
12 von willebrand's disease 27.2 F11 F2 F5 F8 VWF
13 myocardial infarction 26.8 F11 F2 F5 F8 VWF
14 multiple sclerosis-ichthyosis-factor viii deficiency syndrome 12.1
15 moderately severe hemophilia a 11.5
16 factor xiii deficiency 10.5 F5 F8
17 carotid artery occlusion 10.5 F5 F8
18 fainting 10.3 F8 VWF
19 von willebrand disease, type 2 10.3 F8 VWF
20 von willebrand disease, type 3 10.3 F8 VWF
21 cerebral arteritis 10.3 F8 VWF
22 symptomatic form of hemophilia a in female carriers 10.3
23 hemarthrosis 10.3 F8 VWF
24 lymphangiosarcoma 10.3 F8 VWF
25 factor xii deficiency 10.1 F5 VWF
26 fournier gangrene 10.1 F2 F8
27 vitamin k deficiency hemorrhagic disease 10.1 F2 F8
28 cardiac tamponade 10.0 F2 F8
29 paracetamol poisoning 10.0 F2 F5
30 spinal cord infarction 10.0 F2 F5
31 livedoid vasculopathy 10.0 F2 F5
32 sudden sensorineural hearing loss 10.0 F2 F5
33 cerebral sinovenous thrombosis 10.0 F2 F5
34 hemoglobin e disease 10.0 F2 F5
35 prothrombin deficiency, congenital 10.0 F2 F5
36 sagittal sinus thrombosis 10.0 F2 F5
37 ischemic colitis 10.0 F2 F5
38 cryptogenic cirrhosis 10.0 F2 F5
39 sneddon syndrome 9.9 F2 F5
40 porencephaly 9.9 F2 F5
41 acquired hemophilia 9.9 F11 F5 F8
42 retinal vascular occlusion 9.9 F2 F5
43 antithrombin iii deficiency 9.9 F2 F5
44 peripheral vertigo 9.9 F2 F5
45 central retinal vein occlusion 9.9 F2 F5
46 scott syndrome 9.9 F2 F5
47 portal vein thrombosis 9.9 F2 F5
48 patent foramen ovale 9.9 F2 F5
49 arteritic anterior ischemic optic neuropathy 9.9 F2 F5
50 dysfibrinogenemia 9.9 F2 F5

Graphical network of the top 20 diseases related to Factor Viii Deficiency:



Diseases related to Factor Viii Deficiency

Symptoms & Phenotypes for Factor Viii Deficiency

Symptoms via clinical synopsis from OMIM:

57
Heme:
bleeding diathesis
hemophilia

Lab:
factor viii deficiency
normal bleeding time
no factor viii elevation after hemophilic plasma infusion


Clinical features from OMIM:

134500

Human phenotypes related to Factor Viii Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 reduced factor viii activity 32 HP:0003125

MGI Mouse Phenotypes related to Factor Viii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 F11 F2 F5 F8 LMAN1 VWF

Drugs & Therapeutics for Factor Viii Deficiency

Drugs for Factor Viii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 131)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable
2
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
3
Tranexamic Acid Approved Phase 4,Not Applicable 1197-18-8 5526
4
Didanosine Approved Phase 4 69655-05-6 50599
5
Indinavir Approved Phase 4 150378-17-9 5362440
6
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
7
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
8
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
9
Zidovudine Approved Phase 4,Phase 3,Phase 1,Not Applicable 30516-87-1 35370
10
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
11
Ribavirin Approved Phase 4,Phase 1 36791-04-5 37542
12
Hyaluronic acid Approved, Vet_approved Phase 4,Not Applicable 9004-61-9 53477741
13
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
14
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
15 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
16 Coagulants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
17 Factor VIII Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
18 Hemostatics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Anti-HIV Agents Phase 4,Phase 3,Phase 1,Not Applicable
20 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Not Applicable
21 Antimetabolites Phase 4,Phase 3,Phase 1,Not Applicable
22 Anti-Retroviral Agents Phase 4,Phase 3,Phase 1,Not Applicable
23 Antiviral Agents Phase 4,Phase 3,Phase 1,Not Applicable
24 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
25 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
26 Antibodies, Bispecific Phase 4,Phase 3,Phase 1
27 Antifibrinolytic Agents Phase 4,Not Applicable
28 HIV Protease Inhibitors Phase 4,Phase 1
29 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 1,Not Applicable
30
protease inhibitors Phase 4,Phase 1
31 Reverse Transcriptase Inhibitors Phase 4,Phase 3,Phase 1,Not Applicable
32 Interferon-alpha Phase 4
33 interferons Phase 4
34 Adjuvants, Immunologic Phase 4,Not Applicable
35 Hylan Phase 4
36 Protective Agents Phase 4,Phase 3,Not Applicable
37 triamcinolone acetonide Phase 4
38 Triamcinolone diacetate Phase 4
39 Triamcinolone hexacetonide Phase 4
40 Viscosupplements Phase 4,Not Applicable
41 Pharmaceutical Solutions Phase 4,Phase 1,Early Phase 1
42 Arginine Vasopressin Phase 4,Phase 2,Phase 1
43 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1
44 Natriuretic Agents Phase 4,Phase 2,Phase 1
45 Vasopressins Phase 4,Phase 2,Phase 1
46 arginine Nutraceutical Phase 4,Phase 2,Phase 1
47
rituximab Approved Phase 3,Phase 2 174722-31-7 10201696
48
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
49
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
50
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 506)
# 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 Study Evaluating ReFacto® in Hemophilia A Undergoing Major Surgery Completed NCT00092976 Phase 4 ReFacto
3 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
4 Efficacy and Cost Effectiveness of Pharmacokinetic Dosing in Haemophilia A Completed NCT02697370 Phase 4 Pharmacokinetic based dosage change
5 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
6 Comparison of Different Prophylaxis Regimens for Moderate to Severe Hemophilia A Pediatric Patients Completed NCT02727647 Phase 4 FVIII;FVIII
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 Recombinant Protein-Free Factor VIII (rAHF-PFM);Recombinant Protein-Free Factor VIII (rAHF-PFM)
8 Joint Status in Subjects With Severe Hemophilia A in Relation to Different Treatment Regimens Completed NCT00927667 Phase 4
9 PF-05208756, Moroctocog Alfa (AF-CC), Xyntha For Hemophilia A Completed NCT02492984 Phase 4 Intravenous infusions of Xyntha
10 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
11 Prophylaxis Versus on Demand Treatment for Children With Hemophilia A Completed NCT01810666 Phase 4
12 Study Comparing Blood Levels of ReFacto and Advante in Hemophilia A Completed NCT00168051 Phase 4 ReFacto;Advante
13 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)
14 Pharmacokinetic Study of ADVATE 3000 IU in Previously Treated Patients With Severe Hemophilia A Completed NCT00916032 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 Dose-Response Study of Recombinant Factor VIII Manufactured Protein-Free (rAHF-PFM) in Patients With Hemophilia A Completed NCT00289536 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 Study of Safety And Efficacy Of ReFacto AF In Previously Untreated Hemophilia A Patients In The Usual Care Setting Completed NCT00950170 Phase 4
19 BAY14-2222 Prophylaxis and Joint Function Improvement (Adults) Completed NCT00586521 Phase 4 Kogenate (BAY14-2222)
20 China ADVATE PTP Study Completed NCT02170402 Phase 4
21 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
22 Survey of Inhibitors in Plasma-Product Exposed Toddlers Completed NCT01064284 Phase 4 PLASMA DERIVED Factor VIII;Recombinant FVIII
23 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
24 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
25 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
26 Canadian Hemophilia Prophylaxis Study Completed NCT01085344 Phase 4
27 Viscosupplementation in Patients With Hemophilic Arthropathy Completed NCT01748201 Phase 4
28 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
29 Trial of NovoSeven® in Haemophilia - Joint Bleeds Completed NCT00108797 Phase 4 eptacog alfa (activated);Feiba VH
30 Safety and Efficacy of Benefix in Patients With Hemophilia B in Usual Care Settings in China Completed NCT02336178 Phase 4 Benefix
31 IMMUNINE Pre-Treatment Study Completed NCT01128881 Phase 4
32 Study Evaluating BeneFIX in Patients With Haemophilia B, Previously Treated With Plasma Derived Factor IX Completed NCT00749476 Phase 4
33 Study Evaluating BENEFIX in Previously Treated Patients With Hemophilia B Completed NCT00581126 Phase 4 Recombinant Factor IX Coagulation
34 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4 human coagulation Factor IX
35 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)
36 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
37 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
38 Study of Emicizumab Prophylaxis in Participants With Hemophilia A and Inhibitors Undergoing Minor Surgical Procedures Recruiting NCT03361137 Phase 4 Emicizumab
39 Study of rFVIIIFc for ITI in Haemophilia A Patients With Inhibitors Who Have Failed Previous ITI Therapies Recruiting NCT03103542 Phase 4
40 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
41 Safety Study of Alphanate in Previously Treated Patients With Severe Hemophilia A Recruiting NCT00323856 Phase 4 Alphanate SD/HT
42 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
43 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
44 Research Study to Look at Side Effects During Regular Injection With Factor VIII Medicine Named Turoctocog Alfa for a 8 Weeks Period Recruiting NCT03449342 Phase 4 turoctocog alfa
45 INdividualized ITI Based on Fviii(ATE) Protection by VWF Recruiting NCT03204539 Phase 4 Wilate
46 A Clinical Phenotype Based Individualized Prophylaxis in Chinese Hemophilia A Children Recruiting NCT02999308 Phase 4
47 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Active, not recruiting NCT00555555 Phase 4
48 RIXUBIS INDIA PMC Study Not yet recruiting NCT03565237 Phase 4
49 Multicentre, Non-controlled, Prospective, Post-Marketing Safety Study Following Long-Term Prophylactic OptivateTreatment in Subjects With Severe Haemophilia A Terminated NCT01811875 Phase 4
50 Assessment of the Risk of Inhibitor Formation in Previously Treated Patients With Severe Hemophilia A Terminated NCT00621673 Phase 4 Kogenate (BAY 14-2222)

Search NIH Clinical Center for Factor Viii Deficiency

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


Cochrane evidence based reviews: hemophilia a

Genetic Tests for Factor Viii Deficiency

Genetic tests related to Factor Viii Deficiency:

# Genetic test Affiliating Genes
1 Factor Viii Deficiency 29

Anatomical Context for Factor Viii Deficiency

MalaCards organs/tissues related to Factor Viii Deficiency:

41
Bone, Testes, Liver, Skin, Heart

Publications for Factor Viii Deficiency

Articles related to Factor Viii Deficiency:

(show top 50) (show all 128)
# Title Authors Year
1
Treatment of choroidal neovascularization in a case of factor VIII deficiency: Ten-year follow-up. ( 29977729 )
2018
2
Management of combined factor V and factor VIII deficiency in pregnancy. ( 29667457 )
2018
3
Hemorrhagic pleural effusion related to acquired coagulation factor VIII deficiency: A case report. ( 29285161 )
2017
4
Acquired factor VIII deficiency: two case reports and a review of literature. ( 28352491 )
2017
5
Unexpected pharmacokinetics of recombinant porcine factor VIII in a patient with acquired factor VIII deficiency and spontaneous epidural haematoma. ( 28664642 )
2017
6
A Hematological Menace: Multiple Venous Thrombosis Complicated by Acquired Factor VIII Deficiency. ( 27040655 )
2016
7
Altered collagen turnover in factor VIII-deficient rats with hemophilic arthropathy identifies potential novel serological biomarkers in hemophilia. ( 27681457 )
2016
8
Acquired coagulant factor VIII deficiency induced by Bacillus anthracis lethal toxin in mice. ( 25906166 )
2015
9
Factor VIII inhibitory antibody in a patient with combined factor V/factor VIII deficiency. ( 25472918 )
2015
10
A comparison of the treatment of patients with factor IX deficiency to that of those with factor VIII deficiency: results of an International Survey conducted as part of the International FIX Treatment Network. ( 25156443 )
2014
11
Frequency of combined factor V and factor VIII deficiency in southern Iran. ( 24370584 )
2014
12
piggyBac-mediated phenotypic correction of factor VIII deficiency. ( 26015980 )
2014
13
The bone disease associated with factor VIII deficiency in mice is secondary to increased bone resorption. ( 23731369 )
2013
14
Acquired factor VIII deficiency presenting with compartment syndrome. ( 24176587 )
2013
15
Frequency of combined factor V and factor VIII deficiency in southern Iran. ( 23632381 )
2013
16
Therapeutic challenges in acquired factor VIII deficiency. ( 23233606 )
2012
17
Factor VIII deficiency does not protect against atherosclerosis. ( 21972848 )
2012
18
Decreased bone density and bone strength in a mouse model of severe factor VIII deficiency. ( 22469061 )
2012
19
Combined factor V and factor VIII deficiency. ( 22895292 )
2012
20
Combined factor V and factor VIII deficiency: a report of a case, genetic analysis, and response to desmopressin acetate. ( 22895291 )
2012
21
Coronary artery calcification in hemophilia A: no evidence for a protective effect of factor VIII deficiency on atherosclerosis. ( 22173226 )
2012
22
Acquired factor VIII deficiency presenting as a floor of the mouth swelling. ( 22687672 )
2011
23
Recombinant factor VIIa and factor VIII treatment for acquired factor VIII deficiency: a case of repeated thrombotic endotracheal occlusion in a mechanically ventilated patient. ( 21418550 )
2011
24
Elevated factor VIII enhances thrombin generation in the presence of factor VIII-deficiency, factor XI-deficiency or fondaparinux. ( 21144556 )
2011
25
Durable responses to rituximab in acquired factor VIII deficiency. ( 21544323 )
2011
26
Self-reported barriers to hemophilia care in people with factor VIII deficiency. ( 22099357 )
2011
27
Acquired factor VIII deficiency after consuming the dried gallbladder of a cobra, Naja naja. ( 21120211 )
2010
28
Peri-interventional control of haemostasis in a patient with combined coagulation factor V- and factor VIII-deficiency and anaphylaxis to fresh frozen plasma - a rare indication for recombinant factor VIIa. ( 20398074 )
2010
29
Structural basis for the cooperative interplay between the two causative gene products of combined factor V and factor VIII deficiency. ( 20142513 )
2010
30
Molecular analysis in two Tunisian families with combined factor V and factor VIII deficiency. ( 20491958 )
2010
31
Induction of heme oxygenase-1 in factor VIII-deficient mice reduces the immune response to therapeutic factor VIII. ( 19890094 )
2010
32
Mild and moderate factor VIII deficiency: inhibitor risks. ( 19548903 )
2009
33
Haemophilia A (factor VIII deficiency) in a litter of Weimaraners. ( 19508492 )
2009
34
Life threatening and occult mediastinal haemorrhage secondary to acquired factor VIII deficiency. ( 19347087 )
2009
35
Combined Factor V and Factor VIII Deficiency. ( 19598067 )
2009
36
Intracranial haemophilic pseudotumor associated with factor VIII deficiency. ( 19637022 )
2009
37
Liver-restricted expression of the canine factor VIII gene facilitates prevention of inhibitor formation in factor VIII-deficient mice. ( 19757487 )
2009
38
Identification of de novo deletion in the factor VIII gene by MLPA technique in two girls with isolated factor VIII deficiency. ( 19432928 )
2009
39
The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. ( 18685427 )
2008
40
Antithrombin affects hemostatic response to recombinant activated factor VII in factor VIII deficient plasma. ( 18292408 )
2008
41
Diagnosis of factor VIII deficiency. ( 18510526 )
2008
42
Deletion of 3 residues from the C-terminus of MCFD2 affects binding to ERGIC-53 and causes combined factor V and factor VIII deficiency. ( 17971482 )
2008
43
Type IV Ehlers-Danlos syndrome associated with factor VIII deficiency. ( 19172005 )
2008
44
Activated protein C resistance test using factor VIII-deficient plasma: a new approach to the venous thrombotic risk? ( 17849066 )
2007
45
A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients. ( 17287640 )
2007
46
Acquired factor VIII deficiency associated with a novel primary immunodeficiency suggestive of autosomal recessive hyper IgE syndrome. ( 17483712 )
2007
47
Factor-VIII deficiency in a newborn alpaca. ( 17063727 )
2006
48
Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient. ( 16676083 )
2006
49
Deciphering the mystery of combined factor V and factor VIII deficiency. ( 16689736 )
2006
50
Combined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics. ( 15876275 )
2005

Variations for Factor Viii Deficiency

Expression for Factor Viii Deficiency

Search GEO for disease gene expression data for Factor Viii Deficiency.

Pathways for Factor Viii Deficiency

Pathways related to Factor Viii Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 F2 F5 F8 LMAN1 MCFD2
2
Show member pathways
12.81 F5 F8 LMAN1 MCFD2
3
Show member pathways
12.63 F11 F2 F5 F8 VWF
4
Show member pathways
12.51 F5 F8 LMAN1 MCFD2
5
Show member pathways
12.28 F11 F2 F5 F8
6
Show member pathways
11.56 F11 F2 F5 F8 VWF
7 11.24 F11 F2 F5 F8 LMAN1 VWF
8 11.08 F2 VWF

GO Terms for Factor Viii Deficiency

Cellular components related to Factor Viii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.83 F11 F2 F5 F8 VWF
2 Golgi membrane GO:0000139 9.62 F5 F8 LMAN1 MCFD2
3 endoplasmic reticulum lumen GO:0005788 9.54 F2 F5 F8
4 endoplasmic reticulum-Golgi intermediate compartment GO:0005793 9.46 LMAN1 MCFD2
5 ER to Golgi transport vesicle membrane GO:0012507 9.4 LMAN1 MCFD2
6 platelet alpha granule lumen GO:0031093 9.33 F5 F8 VWF
7 platelet alpha granule GO:0031091 9.26 F5 VWF
8 COPII-coated ER to Golgi transport vesicle GO:0030134 9.13 F5 F8 LMAN1
9 endoplasmic reticulum-Golgi intermediate compartment membrane GO:0033116 8.92 F5 F8 LMAN1 MCFD2

Biological processes related to Factor Viii Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.65 F2 F5 F8 LMAN1 MCFD2
2 COPII vesicle coating GO:0048208 9.62 F5 F8 LMAN1 MCFD2
3 platelet degranulation GO:0002576 9.58 F5 F8 VWF
4 platelet activation GO:0030168 9.54 F2 F8 VWF
5 response to wounding GO:0009611 9.49 F2 VWF
6 protein N-linked glycosylation via asparagine GO:0018279 9.48 LMAN1 MCFD2
7 acute-phase response GO:0006953 9.46 F2 F8
8 blood coagulation, intrinsic pathway GO:0007597 9.46 F11 F2 F8 VWF
9 regulation of blood coagulation GO:0030193 9.43 F11 F2
10 blood coagulation GO:0007596 9.43 F11 F2 F5 F8 LMAN1 VWF
11 hemostasis GO:0007599 9.02 F11 F2 F5 F8 VWF

Molecular functions related to Factor Viii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.62 F5 F8

Sources for Factor Viii Deficiency

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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