MCID: MLD013
MIFTS: 30

Mild Hemophilia a

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Mild Hemophilia a

MalaCards integrated aliases for Mild Hemophilia a:

Name: Mild Hemophilia a 55
Mild Hereditary Factor Viii Deficiency Disease 69
Mild Factor Viii Deficiency 55

Characteristics:

Orphanet epidemiological data:

55
mild hemophilia a
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA169808
UMLS via Orphanet 70 C0272324
ICD10 via Orphanet 33 D66
UMLS 69 C0272324

Summaries for Mild Hemophilia a

MalaCards based summary : Mild Hemophilia a, also known as mild hereditary factor viii deficiency disease, is related to hemophilia and hemophilia a. 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 Natriuretic Agents and Coagulants 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)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.3 F8 VWF
2 hemophilia a 29.8 F10 F8 VWF
3 factor viii deficiency 29.5 F8 VWF
4 von willebrand's disease 29.5 F8 VWF
5 acquired hemophilia 10.0 F10 F8
6 factor vii deficiency 9.9 F10 F8
7 hemophilia b 9.9 F10 F8
8 fainting 9.8 F8 VWF
9 von willebrand disease, type 2 9.8 F8 VWF
10 acquired von willebrand syndrome 9.8 F8 VWF
11 von willebrand disease, type 3 9.8 F8 VWF
12 factor x deficiency 9.8 F10 VWF
13 cerebral arteritis 9.8 F8 VWF
14 von willebrand disease, type 1 9.8 F8 VWF
15 inherited blood coagulation disease 9.7 F8 VWF
16 intracranial thrombosis 9.7 F8 VWF
17 lymphangiosarcoma 9.7 F8 VWF
18 blood coagulation disease 9.7 F8 VWF
19 cataract 32, multiple types 9.7
20 allergic rhinitis 9.7
21 rhinitis 9.7
22 fibromatosis 9.7
23 afibrinogenemia, congenital 9.6 F8 VWF
24 glanzmann thrombasthenia 9.6 F8 VWF
25 bernard-soulier syndrome 9.6 F8 VWF
26 immune system disease 9.5 F8 VWF
27 thrombosis 9.5 F10 VWF
28 hemarthrosis 9.4 F10 F8 VWF
29 thrombophilia due to activated protein c resistance 9.4 F10 F8 VWF
30 afibrinogenemia 9.4 F10 F8 VWF
31 thrombophilia due to thrombin defect 9.4 F10 F8 VWF
32 blood platelet disease 9.4 F10 F8 VWF
33 hemorrhagic disease 9.4 F10 F8 VWF
34 thrombophilia 9.4 F10 F8 VWF
35 atrial fibrillation 9.4 F10 VWF
36 myocardial infarction 9.3 F10 F8 VWF

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 DDAVP vs. Exercise in Patients With Mild Hemophilia A Recruiting NCT03136003 Phase 4 DDAVP
2 Exercise Versus DDAVP in Patients With Mild Hemophilia A Recruiting NCT03379974 Phase 4 DDAVP Inhalant Product
3 Efficacy and Safety of IL-11 in DDAVP Unresponsive Completed NCT00994929 Phase 2
4 Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B Patients Completed NCT02540187
5 Treatment Patterns And Outcomes In Patients Treated With Benefix Or Refacto/Refacto AF - A Swedish Cohort Study Active, not recruiting NCT02740413

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:

38
Testes

Publications for Mild Hemophilia a

Articles related to Mild Hemophilia a:

(show all 40)
# Title Authors Year
1
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. ( 29357978 )
2018
2
Mild hemophilia A presaged by recurrent postoperative hemorrhagic complications in an elderly patient. ( 28966812 )
2017
3
Nasal hemophilic pseudotumor in a patient with mild hemophilia A and allergic rhinitis. ( 28211222 )
2017
4
Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A. ( 27148839 )
2016
5
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? ( 25824987 )
2015
6
Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies. ( 26182242 )
2015
7
Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity. ( 26278069 )
2015
8
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. ( 24706524 )
2014
9
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A. ( 25139352 )
2014
10
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. ( 25212677 )
2014
11
Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. ( 24911459 )
2014
12
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. ( 23812942 )
2013
13
Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. ( 23460037 )
2013
14
Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. ( 24030345 )
2013
15
Deep intronic variations may cause mild hemophilia A. ( 21689372 )
2011
16
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. ( 21166991 )
2011
17
Mild hemophilia A. ( 19995408 )
2010
18
The use of desmopressin in mild hemophilia A. ( 20829683 )
2010
19
Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. ( 19422439 )
2009
20
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
21
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. ( 19719828 )
2009
22
Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. ( 18047548 )
2008
23
Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. ( 18799938 )
2008
24
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
25
Health-related quality of life in a cohort of adult patients with mild hemophilia A. ( 18284605 )
2008
26
Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. ( 18419741 )
2008
27
Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. ( 17261494 )
2007
28
Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. ( 15996947 )
2005
29
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
30
Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. ( 12640572 )
2003
31
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. ( 12351418 )
2002
32
A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. ( 11848452 )
2002
33
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
34
Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. ( 11754400 )
2001
35
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. ( 9864159 )
1999
36
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. ( 10090936 )
1999
37
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
38
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. ( 1301960 )
1992
39
Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. ( 2107887 )
1990
40
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:

# 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:

# 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

Sources for Mild Hemophilia a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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