MCID: MLD013
MIFTS: 31

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 59
Mild Hereditary Factor Viii Deficiency Disease 73
Mild Factor Viii Deficiency 59
Hemophilia a, Mild 6
Hemophilia a 73

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA169808
UMLS via Orphanet 74 C0272324
ICD10 via Orphanet 34 D66
UMLS 73 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 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 related to Mild Hemophilia a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.1 F8 VWF
2 hemophilia a 29.3 F10 F8 VWF
3 factor viii deficiency 29.3 F8 VWF
4 von willebrand's disease 29.2 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 9.7 F8 VWF
9 allergic rhinitis 9.7
10 purpura 9.7
11 rhinitis 9.7
12 type i 9.7
13 fibromatosis 9.7
14 acquired von willebrand syndrome 9.7 F8 VWF
15 von willebrand disease, type 2 9.6 F8 VWF
16 von willebrand disease, type 3 9.6 F8 VWF
17 cerebral arteritis 9.6 F8 VWF
18 von willebrand disease, type 1 9.6 F8 VWF
19 inherited blood coagulation disease 9.6 F8 VWF
20 intracranial thrombosis 9.6 F8 VWF
21 factor x deficiency 9.6 F10 VWF
22 lymphangiosarcoma 9.6 F8 VWF
23 afibrinogenemia, congenital 9.5 F8 VWF
24 blood coagulation disease 9.5 F8 VWF
25 glanzmann thrombasthenia 9.4 F8 VWF
26 bernard-soulier syndrome 9.3 F8 VWF
27 immune system disease 9.2 F8 VWF
28 thrombosis 9.2 F10 VWF
29 hemarthrosis 9.1 F10 F8 VWF
30 thrombophilia due to activated protein c resistance 9.1 F10 F8 VWF
31 afibrinogenemia 9.1 F10 F8 VWF
32 factor v deficiency 9.1 F10 F8 VWF
33 thrombophilia due to thrombin defect 9.1 F10 F8 VWF
34 hemorrhagic disease 9.1 F10 F8 VWF
35 blood platelet disease 9.1 F10 F8 VWF
36 thrombophilia 9.0 F10 F8 VWF
37 atrial fibrillation 9.0 F10 VWF
38 myocardial infarction 8.8 F10 F8 VWF

Comorbidity relations with Mild Hemophilia a via Phenotypic Disease Network (PDN):


Deficiency Anemia

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 Factor VIII Phase 4,Phase 2
2 Natriuretic Agents Phase 4,Phase 2
3 Coagulants Phase 4,Phase 2
4 Hemostatics Phase 4,Phase 2
5 Deamino Arginine Vasopressin Phase 4,Phase 2
6 Vasopressins 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
Serine Approved, Nutraceutical 56-45-1 5951
12
protease inhibitors
13 Fibrinolytic Agents
14 Serine Proteinase Inhibitors
15 Thromboplastin
16 HIV Protease Inhibitors
17 Anticoagulants
18 Factor Xa Inhibitors
19 Lipoprotein-associated coagulation inhibitor
20 Antithrombin III
21 Antithrombins

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 Completed NCT02740413

Search NIH Clinical Center for Mild Hemophilia a

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


Genetic Tests for Mild Hemophilia a

Anatomical Context for Mild Hemophilia a

MalaCards organs/tissues related to Mild Hemophilia a:

41
Testes

Publications for Mild Hemophilia a

Articles related to Mild Hemophilia a:

(show all 46)
# Title Authors Year
1
Successful Surgical Removal of A Massive Iliopsoas Pseudotumor in a Boy With Mild Hemophilia A. ( 29589344 )
2018
2
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization. ( 29357978 )
2018
3
Nasal hemophilic pseudotumor in a patient with mild hemophilia A and allergic rhinitis. ( 28211222 )
2017
4
Mild hemophilia A presaged by recurrent postoperative hemorrhagic complications in an elderly patient. ( 28966812 )
2017
5
Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A. ( 27148839 )
2016
6
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? ( 25824987 )
2015
7
[Mild hemophilia A fortuitously discovered during Henoch-SchAPnlein purpura]. ( 26412326 )
2015
8
Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies. ( 26182242 )
2015
9
Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity. ( 26278069 )
2015
10
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. ( 25212677 )
2014
11
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A. ( 25139352 )
2014
12
Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. ( 24911459 )
2014
13
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. ( 24706524 )
2014
14
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. ( 23812942 )
2013
15
Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. ( 24030345 )
2013
16
Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. ( 23460037 )
2013
17
[Diagnosis of mild hemophilia A made by massive intraabdominal bleeding in a 13-year-old boy]. ( 22975817 )
2012
18
Deep intronic variations may cause mild hemophilia A. ( 21689372 )
2011
19
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. ( 21166991 )
2011
20
The use of desmopressin in mild hemophilia A. ( 20829683 )
2010
21
Mild hemophilia A. ( 19995408 )
2010
22
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. ( 19719828 )
2009
23
Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. ( 19422439 )
2009
24
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
25
Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. ( 18419741 )
2008
26
Health-related quality of life in a cohort of adult patients with mild hemophilia A. ( 18284605 )
2008
27
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
28
Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. ( 18047548 )
2008
29
Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. ( 18799938 )
2008
30
Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. ( 17261494 )
2007
31
Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. ( 15996947 )
2005
32
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
33
Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. ( 12640572 )
2003
34
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. ( 12351418 )
2002
35
A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. ( 11848452 )
2002
36
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
37
Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. ( 11754400 )
2001
38
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. ( 9864159 )
1999
39
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. ( 10090936 )
1999
40
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
41
Loss of tolerance to exogenous and endogenous factor VIII in a mild hemophilia A patient with an Arg593 to Cys mutation. ( 9292523 )
1997
42
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. ( 1301960 )
1992
43
Intranasal DDAVP: biological and clinical evaluation in mild factor VIII deficiency. ( 1806455 )
1991
44
Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. ( 2107887 )
1990
45
Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. ( 2495245 )
1989
46
Detection of mild factor VIII Deficiency by thrombokinetics. ( 1155379 )
1975

Variations for Mild Hemophilia a

ClinVar genetic disease variations for Mild Hemophilia a:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F8 NM_000132.3(F8): c.2113+461_2113+473del deletion Pathogenic

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
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....