MCID: MLD013
MIFTS: 29

Mild Hemophilia a malady

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Mild Hemophilia a

Aliases & Descriptions for Mild Hemophilia a:

Name: Mild Hemophilia a 56
Mild Hereditary Factor Viii Deficiency Disease 69
Mild Factor Viii Deficiency 56

Characteristics:

Orphanet epidemiological data:

56
mild hemophilia a
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 56 ORPHA169808
UMLS via Orphanet 70 C0272324
ICD10 via Orphanet 34 D66

Summaries for Mild Hemophilia a

MalaCards based summary : Mild Hemophilia a, also known as mild hereditary factor viii deficiency disease, is related to hemophilia a and hemophilia. An important gene associated with Mild Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). The drugs Factor VIII and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include testes.

Related Diseases for Mild Hemophilia a

Diseases in the Mild Hemophilia a family:

Mild Hemophilia B

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

(show all 36)
id Related Disease Score Top Affiliating Genes
1 hemophilia a 10.4
2 hemophilia 10.4
3 acrodysplasia scoliosis 10.0 F10 F8
4 scapuloperoneal myopathy, x-linked dominant 10.0 F10 F8
5 pregnancy loss, recurrent 2 10.0 F10 F8
6 vcl-related familial hypertrophic cardiomyopathy 9.9 F8 VWF
7 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 9.9 F8 VWF
8 headache 9.9 F8 VWF
9 vcl-related dilated cardiomyopathy 9.9 F8 VWF
10 acromegaloid hypertrichosis syndrome 9.9 F8 VWF
11 alpha-2-macroglobulin deficiency 9.9 F8 VWF
12 hypertrichosis 9.9 F8 VWF
13 fletcher factor deficiency 9.9 F8 VWF
14 essential thrombocythemia 9.9 F8 VWF
15 renal adenoma 9.9 F8 VWF
16 oguchi disease-2 9.9 F10 VWF
17 thyroid cancer, anaplastic 9.9 F8 VWF
18 atrophic nonflaccid tympanic membrane 9.9 F8 VWF
19 ocular hyperemia 9.8 F8 VWF
20 pyridoxamine 5'-phosphate oxidase deficiency 9.8 F8 VWF
21 bone development disease 9.8 F10 VWF
22 membranoproliferative glomerulonephritis 9.8 F8 VWF
23 high anorectal malformation 9.7 F10 F8 VWF
24 pineal region meningioma 9.7 F10 F8 VWF
25 myotonic dystrophy 9.7 F10 F8 VWF
26 otopalatodigital syndrome, type i 9.7 F10 F8 VWF
27 pregnancy loss, recurrent 1 9.7 F10 F8 VWF
28 aids dementia complex 9.7 F10 F8 VWF
29 immunodeficiency, common variable, 6 9.7 F10 F8 VWF
30 myeloproliferative neoplasm 9.7 F10 F8 VWF
31 perichondritis of auricle 9.7 F10 F8 VWF
32 giant papillary conjunctivitis 9.7 F8 VWF
33 myocardial infarction 9.6 F10 F8 VWF
34 type 2n von willebrand disease 9.6
35 von willebrand's disease 9.6
36 fibromatosis 9.6

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



Diseases related to Mild Hemophilia a

Symptoms & Phenotypes for Mild Hemophilia a

Drugs & Therapeutics for Mild Hemophilia a

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

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Factor VIII Phase 4,Phase 2,Phase 1
2 Natriuretic Agents Phase 4,Phase 2,Phase 1
3 Coagulants Phase 4,Phase 2,Phase 1
4 Hemostatics Phase 4,Phase 2,Phase 1
5 Deamino Arginine Vasopressin Phase 4,Phase 2,Phase 1
6 Vasopressins Phase 4,Phase 2,Phase 1
7 Pharmaceutical Solutions Phase 4
8 Arginine Vasopressin Phase 4,Phase 2,Phase 1
9 arginine Nutraceutical Phase 4,Phase 2,Phase 1
10 Immunoglobulin Fc Fragments Phase 3
11 Immunoglobulins Phase 3
12 Antibodies Phase 3
13
Oprelvekin Approved, Investigational Phase 2 145941-26-0
14 Thrombin
15
protease inhibitors
16 Serine Proteinase Inhibitors
17 HIV Protease Inhibitors
18 Thromboplastin
19 Factor Xa Inhibitors
20 Fibrinolytic Agents
21 Anticoagulants
22 Lipoprotein-associated coagulation inhibitor
23 Antithrombin III
24 Antithrombins
25 serine Nutraceutical

Interventional clinical trials:

(show all 21)
id Name Status NCT ID Phase
1 Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX) Completed NCT00139828 Phase 4
2 High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With Inhibitors Completed NCT00571584 Phase 4
3 Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle Arthropathy Completed NCT00638001 Phase 4
4 DDAVP vs. Exercise Not yet recruiting NCT03136003 Phase 4
5 Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia B Completed NCT01027364 Phase 3
6 Efficacy and Safety of IL-11 in DDAVP Unresponsive Completed NCT00994929 Phase 2
7 Allogenic Bone Marrow Derived Mesenchymal Stem Cell Therapy in Cases of Hemophilia Unknown status NCT02108132 Phase 1
8 Characterization of Laboratory Response to DDAVP in Adult Hemophilia A Carriers Enrolling by invitation NCT02506023 Phase 1
9 Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B Patients Completed NCT02540187
10 Inhibitor Development in Patients With Hemophilia A Undergoing Surgery Completed NCT01571934
11 Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With Inhibitors Completed NCT00703911
12 Project to Update the Study of Congenital Haemophilia in Spain Completed NCT01959555
13 Females With Severe or Moderate Hemophilia A or B: an International Multi-center Study Completed NCT00936312
14 Gait Evaluation in Haemophiliac Patients Completed NCT00824798
15 The Hemophilia Ultrasound Project Recruiting NCT02807753
16 The European Paediatric Network for Haemophilia Management ( PedNet Registry) Recruiting NCT02979119
17 Treatment Patterns And Outcomes In Patients Treated With Benefix Or Refacto/Refacto AF - A Swedish Cohort Study Active, not recruiting NCT02740413
18 Outcomes of Prophylaxis and On-demand Treatment for Severe Hemophiliacs and Collection of Baseline Data in Hemophiliacs in Taiwan Enrolling by invitation NCT02908243
19 Platelet Function in Patients With Hemophilia A Enrolling by invitation NCT02093065
20 Bleeding Risk Evaluation in Haemophilia Patients Under Antiplatelet Therapies Not yet recruiting NCT03157154
21 Non Neutralizing Antibodies: Prevalence and Characterization Withdrawn NCT01541527

Search NIH Clinical Center for Mild Hemophilia a

Genetic Tests for Mild Hemophilia a

Anatomical Context for Mild Hemophilia a

MalaCards organs/tissues related to Mild Hemophilia a:

39
Testes

Publications for Mild Hemophilia a

Articles related to Mild Hemophilia a:

(show all 37)
id Title Authors Year
1
Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A. ( 27148839 )
2016
2
Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies. ( 26182242 )
2015
3
Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity. ( 26278069 )
2015
4
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? ( 25824987 )
2015
5
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. ( 25212677 )
2014
6
Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. ( 24911459 )
2014
7
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A. ( 25139352 )
2014
8
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. ( 24706524 )
2014
9
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. ( 23812942 )
2013
10
Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. ( 24030345 )
2013
11
Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. ( 23460037 )
2013
12
Deep intronic variations may cause mild hemophilia A. ( 21689372 )
2011
13
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. ( 21166991 )
2011
14
The use of desmopressin in mild hemophilia A. ( 20829683 )
2010
15
Mild hemophilia A. ( 19995408 )
2010
16
Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. ( 19422439 )
2009
17
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. ( 19719828 )
2009
18
Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions. ( 19506355 )
2009
19
Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. ( 18799938 )
2008
20
Health-related quality of life in a cohort of adult patients with mild hemophilia A. ( 18284605 )
2008
21
Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. ( 18047548 )
2008
22
Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. ( 18419741 )
2008
23
Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in southern Italy. ( 18388498 )
2008
24
Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. ( 17261494 )
2007
25
Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. ( 15996947 )
2005
26
Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development. ( 12969981 )
2004
27
Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. ( 12640572 )
2003
28
Evaluation of high concentration intranasal and intravenous desmopressin in pediatric patients with mild hemophilia A or mild-to-moderate type 1 von Willebrand disease. ( 12032528 )
2002
29
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. ( 12351418 )
2002
30
A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. ( 11848452 )
2002
31
Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. ( 11754400 )
2001
32
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. ( 10090936 )
1999
33
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. ( 9864159 )
1999
34
Factor VIII Ise (R2159C) in a patient with mild hemophilia A, an abnormal factor VIII with retention of function but modification of C2 epitopes. ( 9184393 )
1997
35
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. ( 1301960 )
1992
36
Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. ( 2107887 )
1990
37
Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. ( 2495245 )
1989

Variations for Mild Hemophilia a

Expression for Mild Hemophilia a

Search GEO for disease gene expression data for Mild Hemophilia a.

Pathways for Mild Hemophilia a

GO Terms for Mild Hemophilia a

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.96 F10 F8
2 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

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

id Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.37 F10 F8
2 blood coagulation GO:0007596 9.33 F10 F8 VWF
3 platelet degranulation GO:0002576 9.32 F8 VWF
4 platelet activation GO:0030168 9.26 F8 VWF
5 hemostasis GO:0007599 9.13 F10 F8 VWF
6 blood coagulation, intrinsic pathway GO:0007597 8.8 F10 F8 VWF

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

id Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 8.62 F10 F8

Sources for Mild 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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