MCID: MLD013
MIFTS: 29

Mild Hemophilia a malady

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Mild Hemophilia a

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Sources:
31ICD10 via Orphanet, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Mild Hemophilia a:

Name: Mild Hemophilia a 54
Mild Hereditary Factor Viii Deficiency Disease 68
 
Mild Factor Viii Deficiency 54

Characteristics:

Orphanet epidemiological data:

54
mild factor viii deficiency:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet54 ORPHA169808
UMLS via Orphanet69 C0272324
ICD10 via Orphanet31 D66

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 hemophilia a and hemophilia. An important gene associated with Mild Hemophilia a is F8 (Coagulation Factor VIII), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include testes.

Related Diseases for Mild Hemophilia a

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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)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia a10.4
2hemophilia10.4
3acrodysplasia scoliosis10.0F10, F8
4scapuloperoneal myopathy, x-linked dominant10.0F10, F8
5pregnancy loss, recurrent 210.0F10, F8
6vcl-related familial hypertrophic cardiomyopathy9.9F8, VWF
7vcp-related amyotrophic lateral sclerosis/frontotemporal dementia9.9F8, VWF
8headache9.9F8, VWF
9vcl-related dilated cardiomyopathy9.9F8, VWF
10acromegaloid hypertrichosis syndrome9.9F8, VWF
11alpha-2-macroglobulin deficiency9.9F8, VWF
12hypertrichosis9.9F8, VWF
13fletcher factor deficiency9.9F8, VWF
14essential thrombocythemia9.9F8, VWF
15renal adenoma9.9F8, VWF
16oguchi disease-29.9F10, VWF
17thyroid cancer, anaplastic9.9F8, VWF
18atrophic nonflaccid tympanic membrane9.9F8, VWF
19ocular hyperemia9.8F8, VWF
20pyridoxamine 5'-phosphate oxidase deficiency9.8F8, VWF
21bone development disease9.8F10, VWF
22membranoproliferative glomerulonephritis9.8F8, VWF
23high anorectal malformation9.7F10, F8, VWF
24pineal region meningioma9.7F10, F8, VWF
25myotonic dystrophy9.7F10, F8, VWF
26otopalatodigital syndrome, type i9.7F10, F8, VWF
27pregnancy loss, recurrent 19.7F10, F8, VWF
28aids dementia complex9.7F10, F8, VWF
29immunodeficiency, common variable, 69.7F10, F8, VWF
30myeloproliferative neoplasm9.7F10, F8, VWF
31perichondritis of auricle9.7F10, F8, VWF
32giant papillary conjunctivitis9.7F8, VWF
33myocardial infarction9.6F10, F8, VWF
34von willebrand's disease9.6
35fibromatosis9.6
36type 2n von willebrand disease9.6

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



Diseases related to mild hemophilia a

Symptoms & Phenotypes for Mild Hemophilia a

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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 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HemostaticsPhase 4, Phase 2, Phase 11443
2Natriuretic AgentsPhase 4, Phase 2, Phase 11697
3VasopressinsPhase 4, Phase 2, Phase 1294
4Pharmaceutical SolutionsPhase 48192
5Deamino Arginine VasopressinPhase 4, Phase 2, Phase 177
6CoagulantsPhase 4, Phase 2, Phase 11500
7Factor VIIIPhase 4, Phase 2, Phase 1316
8Arginine VasopressinPhase 4, Phase 2, Phase 1299
9arginineNutraceuticalPhase 4, Phase 2, Phase 1425
10ImmunoglobulinsPhase 36394
11AntibodiesPhase 36394
12Immunoglobulin Fc FragmentsPhase 343
13
Oprelvekinapproved, investigationalPhase 217145941-26-0
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)
14
protease inhibitors5471
Synonyms:
 
protease inhibitors
15Serine Proteinase Inhibitors878
16Thrombin304
17Thromboplastin63
18Lipoprotein-associated coagulation inhibitor8
19HIV Protease Inhibitors5470
20Antithrombins697
21Factor Xa Inhibitors411
22Anticoagulants2623
23Fibrinolytic Agents2388
24Antithrombin III690
25serineNutraceutical954

Interventional clinical trials:

(show all 21)
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
4DDAVP vs. ExerciseNot yet recruitingNCT03136003Phase 4
5Study of Recombinant Factor IX Fc Fusion Protein (rFIXFc) in Participants With Hemophilia BCompletedNCT01027364Phase 3
6Efficacy and Safety of IL-11 in DDAVP UnresponsiveCompletedNCT00994929Phase 2
7Allogenic Bone Marrow Derived Mesenchymal Stem Cell Therapy in Cases of HemophiliaUnknown statusNCT02108132Phase 1
8Characterization of Laboratory Response to DDAVP in Adult Hemophilia A CarriersEnrolling by invitationNCT02506023Phase 1
9Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B PatientsCompletedNCT02540187
10Inhibitor Development in Patients With Hemophilia A Undergoing SurgeryCompletedNCT01571934
11Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With InhibitorsCompletedNCT00703911
12Project to Update the Study of Congenital Haemophilia in SpainCompletedNCT01959555
13Females With Severe or Moderate Hemophilia A or B: an International Multi-center StudyCompletedNCT00936312
14Gait Evaluation in Haemophiliac PatientsCompletedNCT00824798
15The Hemophilia Ultrasound ProjectRecruitingNCT02807753
16The European Paediatric Network for Haemophilia Management ( PedNet Registry)RecruitingNCT02979119
17Treatment Patterns And Outcomes In Patients Treated With Benefix Or Refacto/Refacto AF - A Swedish Cohort StudyActive, not recruitingNCT02740413
18Outcomes of Prophylaxis and On-demand Treatment for Severe Hemophiliacs and Collection of Baseline Data in Hemophiliacs in TaiwanEnrolling by invitationNCT02908243
19Platelet Function in Patients With Hemophilia AEnrolling by invitationNCT02093065
20Bleeding Risk Evaluation in Haemophilia Patients Under Antiplatelet TherapiesNot yet recruitingNCT03157154
21Non 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:

36
Testes

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
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

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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
1endoplasmic reticulum lumenGO:00057889.8F10, F8
2platelet alpha granule lumenGO:00310939.0F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1ER to Golgi vesicle-mediated transportGO:00068889.9F10, F8
2platelet activationGO:00301689.6F8, VWF
3blood coagulationGO:00075969.2F10, F8, VWF
4blood coagulation, intrinsic pathwayGO:00075979.2F10, F8, VWF
5hemostasisGO:00075999.1F10, F8, VWF
6platelet degranulationGO:00025769.0F8, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet