MCID: MDR007
MIFTS: 16

Moderately Severe Hemophilia a

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Moderately Severe Hemophilia a

MalaCards integrated aliases for Moderately Severe Hemophilia a:

Name: Moderately Severe Hemophilia a 59
Moderately Severe Factor Viii Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
moderately severe hemophilia a
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA169805
ICD10 via Orphanet 34 D66

Summaries for Moderately Severe Hemophilia a

MalaCards based summary : Moderately Severe Hemophilia a, also known as moderately severe factor viii deficiency, is related to hemophilia a and hemophilia. An important gene associated with Moderately Severe Hemophilia a is F8 (Coagulation Factor VIII). The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include testes.

Related Diseases for Moderately Severe Hemophilia a

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

# Related Disease Score Top Affiliating Genes
1 hemophilia a 10.1
2 hemophilia 10.1
3 severe hemophilia a 10.1
4 osteoarthritis 9.8

Symptoms & Phenotypes for Moderately Severe Hemophilia a

Drugs & Therapeutics for Moderately Severe Hemophilia a

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
2 tannic acid Approved, Nutraceutical Phase 4
3 Factor VIII Phase 4,Phase 3,Phase 2,Not Applicable
4 Coagulants Phase 4,Phase 3,Phase 2,Not Applicable
5 Hemostatics Phase 4
6
Thrombin Approved, Investigational

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 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)
2 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
3 Pharmacokinetics, Efficacy and Safety Study of IMMUNATE SD (Human Plasma-Derived Coagulation Factor VIII Concentrate) in Hemophilia A Patients Completed NCT00162019 Phase 3 Human Plasma-Derived Coagulation Factor VIII Concentrate (Virus Inactivated by Polysorbate 80 Treatment and Vapor Heat Treatment)
4 Efficacy and Safety Study of a Recombinant and Protein-Free Factor VIII (rAHF-PFM) in Pediatric Patients in Canada With Hemophilia A - A Continuation of Baxter Study 060101 Completed NCT00189982 Phase 2, Phase 3 Antihemophilic Factor Manufactured and Formulated without Added Human or Animal Proteins (rAHF-PFM)
5 Study Evaluating Prophylaxis Treatment & Characterizing Efficacy, Safety, & PK Of B-Domain Deleted Recombinant FVIII Completed NCT00543439 Phase 3
6 Study Evaluating B-Domain Deleted Recombinant Factor VIII (BDDrFVIII, ReFacto AF) in Patients With Hemophilia A Undergoing Elective Major Surgery Completed NCT00243659 Phase 3
7 Evaluate Efficacy and Safety of Recombinant Factor VIII (rFVIII)Treatment of Severe or Moderately Severe Hemophilia A Recruiting NCT02930317 Phase 3 Recombinant Factor VIII (50 IU/kg);Recombinant Factor VIII (On-demand treatment)
8 Early Prophylaxis Immunologic Challenge (EPIC) Study Terminated NCT01376700 Phase 3
9 Evaluate Efficacy and Safety of ADVATE in the Standard Prophylaxis Treatment of Severe or Moderately Severe Hemophilia A Unknown status NCT02282410 Not Applicable ADVATE
10 Efficacy and Safety of ADVATE Standard Prophylaxis to Hemophilia A Unknown status NCT02280265 Not Applicable Recombinant Human Coagulation Factor VIII for injection
11 Thrombin Generation Assay (TGA) as Predictive Test for Haemostatic. Effectiveness of FVIII Concentrates in Haemophiliac A With Inhibitors Unknown status NCT01505946
12 Safety and Efficacy of Turoctocog Alfa During Long-Term Treatment of Severe and Moderately Severe Haemophilia A Enrolling by invitation NCT02035384 turoctocog alfa

Search NIH Clinical Center for Moderately Severe Hemophilia a

Genetic Tests for Moderately Severe Hemophilia a

Anatomical Context for Moderately Severe Hemophilia a

MalaCards organs/tissues related to Moderately Severe Hemophilia a:

41
Testes

Publications for Moderately Severe Hemophilia a

Articles related to Moderately Severe Hemophilia a:

# Title Authors Year
1
Three missense mutations in Arg codons of the factor VIII genes of mild to moderately severe hemophilia A patients. ( 1412186 )
1992
2
Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. ( 1301932 )
1992
3
Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A. ( 2109644 )
1990
4
A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A. ( 2510835 )
1989
5
Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene. ( 2835904 )
1988
6
Severe degenerative joint disease. Mild and moderately severe hemophilia A. ( 578865 )
1977

Variations for Moderately Severe Hemophilia a

Expression for Moderately Severe Hemophilia a

Search GEO for disease gene expression data for Moderately Severe Hemophilia a.

Pathways for Moderately Severe Hemophilia a

GO Terms for Moderately Severe Hemophilia a

Sources for Moderately Severe 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
Content
Loading form....