MCID: MLD013
MIFTS: 28

Mild Hemophilia a malady

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Mild Hemophilia a

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Sources:
52Orphanet, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mild Hemophilia a:

Name: Mild Hemophilia a 52
Mild Hereditary Factor Viii Deficiency Disease 66
 
Mild Factor Viii Deficiency 52

Characteristics:

Orphanet epidemiological data:

52
mild factor viii deficiency:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet52 ORPHA169808
ICD10 via Orphanet29 D66
UMLS via Orphanet67 C0272324

Summaries for Mild Hemophilia a

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MalaCards based summary: Mild Hemophilia a, also known as mild hereditary factor viii deficiency disease, is related to type 2n von willebrand disease and hemophilia a. An important gene associated with Mild Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways are Collagen biosynthesis and modifying enzymes and Platelet activation, signaling and aggregation. Affiliated tissues include bone and testes.

Related Diseases for Mild Hemophilia a

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



Diseases related to mild hemophilia a

Symptoms for Mild Hemophilia a

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Drugs & Therapeutics for Mild Hemophilia a

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1FACTOR VIIIPhase 4, Phase 2, Phase 1282
2
OprelvekinPhase 216145941-26-0
Synonyms:
145941-26-0
AGIF
Adipogenesis inhibitory factor
D05266
IL-11
 
Interleukin-11 precursor
Neumega
Neumega (TN)
Oprelvekin
Oprelvekin (USAN/INN)
Oprelvekin (genetical recombination)
Oprelvekin (genetical recombination) (JAN)
3arginineNutraceuticalPhase 2, Phase 1393
4THROMBIN284
5
protease inhibitors5157
Synonyms:
 
protease inhibitors
6serineNutraceutical883

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Post Marketing Study in Haemophilia B Patients Using Nonafact® (Human Coagulation Factor IX)CompletedNCT00139828Phase 4
2High Dose of Activated Recombinant Human Factor VII for Treatment of Mild/Moderate Joint Bleeds in Haemophilia Patients With InhibitorsCompletedNCT00571584Phase 4
3Impact of Conservative Treatment by Custom-made Orthoses in Patients With Haemophilic Ankle ArthropathyCompletedNCT00638001Phase 4
4Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia BCompletedNCT01027364Phase 3
5Efficacy and Safety of IL-11 in DDAVP UnresponsiveCompletedNCT00994929Phase 2
6Characterization of Laboratory Response to DDAVP in Adult Hemophilia A CarriersEnrolling by invitationNCT02506023Phase 1
7Allogenic Bone Marrow Derived Mesenchymal Stem Cell Therapy in Cases of HemophiliaNot yet recruitingNCT02108132Phase 1
8Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B PatientsCompletedNCT02540187
9Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With InhibitorsCompletedNCT00703911
10Project to Update the Study of Congenital Haemophilia in SpainCompletedNCT01959555
11Females With Severe or Moderate Hemophilia A or B: an International Multi-center StudyCompletedNCT00936312
12Gait Evaluation in Haemophiliac PatientsCompletedNCT00824798
13The Hemophilia Ultrasound ProjectRecruitingNCT02807753
14Treatment Patterns And Outcomes In Patients Treated With Benefix Or Refacto/Refacto AF - A Swedish Cohort StudyActive, not recruitingNCT02740413
15Inhibitor Development in Patients With Hemophilia A Undergoing SurgeryActive, not recruitingNCT01571934
16Outcomes of Prophylaxis and On-demand Treatment for Severe Hemophiliacs and Collection of Baseline Data in Hemophiliacs in TaiwanEnrolling by invitationNCT02908243
17Platelet Function in Patients With Hemophilia AEnrolling by invitationNCT02093065
18Non Neutralizing Antibodies: Prevalence and CharacterizationWithdrawnNCT01541527

Search NIH Clinical Center for Mild Hemophilia a

Genetic Tests for Mild Hemophilia a

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Anatomical Context for Mild Hemophilia a

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MalaCards organs/tissues related to Mild Hemophilia a:

34
Bone, Testes

Animal Models for Mild Hemophilia a or affiliated genes

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Publications for Mild Hemophilia a

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Articles related to Mild Hemophilia a:

(show all 37)
idTitleAuthorsYear
1
Emerging Issues in Diagnosis, Biology, and Inhibitor Risk in Mild Hemophilia A. (27148839)
2016
2
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? (25824987)
2015
3
Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies. (26182242)
2015
4
Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity. (26278069)
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
Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. (23460037)
2013
10
Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. (24030345)
2013
11
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. (23812942)
2013
12
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. (21166991)
2011
13
Deep intronic variations may cause mild hemophilia A. (21689372)
2011
14
Mild hemophilia A. (19995408)
2010
15
The use of desmopressin in mild hemophilia A. (20829683)
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
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
20
Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. (18799938)
2008
21
Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. (18419741)
2008
22
Health-related quality of life in a cohort of adult patients with mild hemophilia A. (18284605)
2008
23
Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. (18047548)
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
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)
2002
29
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
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
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. (9864159)
1999
33
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)
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

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Expression for genes affiliated with Mild Hemophilia a

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

Pathways for genes affiliated with Mild Hemophilia a

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GO Terms for genes affiliated with Mild Hemophilia a

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.6F8, VWF
2endoplasmic reticulum lumenGO:00057889.4F10, F8
3extracellular regionGO:00055768.5F10, F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi vesicle-mediated transportGO:00068889.6F10, F8
2platelet degranulationGO:00025769.4F8, VWF
3platelet activationGO:00301689.1F8, VWF
4blood coagulation, intrinsic pathwayGO:00075979.0F10, F8, VWF
5blood coagulationGO:00075968.5F10, F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.3F10, F8

Sources for Mild Hemophilia a

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet