MCID: MLD013
MIFTS: 24

Mild Hemophilia a malady

Blood diseases, Rare diseases categories

Aliases & Classifications for Mild Hemophilia a

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Mild Hemophilia a:

Name: Mild Hemophilia a 51
Mild Hereditary Factor Viii Deficiency Disease 65
 
Mild Factor Viii Deficiency 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
mild factor viii deficiency:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 169808
ICD10 via Orphanet28 D66
UMLS via Orphanet66 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, Procoagulant Component), and among its related pathways are Collagen biosynthesis and modifying enzymes and Response to elevated platelet cytosolic Ca2+. 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 32)
idRelated DiseaseScoreTop Affiliating Genes
1type 2n von willebrand disease30.0F8, VWF
2hemophilia a10.9
3hemophilia10.9
4factor viii deficiency10.4
5von willebrand's disease10.1
6fibromatosis10.1
7acquired hemophilia a10.0F10, F8
8thrombophilia, x-linked, due to factor ix defect9.9F10, F8
9tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy9.9F8, VWF
10familial hemangioma9.9F8, VWF
11type 2m von willebrand disease9.9F8, VWF
12acral dysostosis dyserythropoiesis syndrome9.9F8, VWF
13von willebrand disease, type 19.9F8, VWF
14dubowitz syndrome9.9F8, VWF
15inner ear disease9.9F10, VWF
16allescheriosis9.8F8, VWF
17intrahepatic cholangiocarcinoma9.8F8, VWF
18thumb absent short stature immune deficiency9.8F8, VWF
19spinocerebellar ataxia 279.8F10, VWF
20thrombophlebitis9.8F8, VWF
21scleroperikeratitis9.7F8, VWF
22severe hemophilia a9.7F10, F8, VWF
23interstitial myocarditis9.7F10, F8, VWF
24skeletal muscle regeneration9.7F10, F8, VWF
25heterotopia, periventricular9.7F10, F8, VWF
26factor v deficiency9.7F10, F8, VWF
27thrombophilia due to activated protein c resistance9.7F10, F8, VWF
28agammaglobulinemia x-linked type 29.7F10, F8, VWF
29stickler syndrome col2a19.7F10, F8, VWF
30thrombophilia due to thrombin defect9.7F10, F8, VWF
31blood group incompatibility9.7F10, VWF
32blood protein disease9.7F10, F8, VWF

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Factor VIIIPhase 4, Phase 2, Phase 1265
2
Oprelvekinapproved, investigationalPhase 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)
3Deamino Arginine VasopressinPhase 2, Phase 165
4CoagulantsPhase 1983
5Arginine VasopressinPhase 1163
6VasopressinsPhase 1159
7arginineNutraceuticalPhase 1346
8Thromboplastin53
9Thrombin257
10Lipoprotein-associated coagulation inhibitor7
11serineNutraceutical420

Interventional clinical trials:

(show all 15)
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
8Observational Registry of NovoSeven® Used as On-demand Treatment of Bleeds in Patients With Haemophilia A and B With InhibitorsCompletedNCT00703911
9Project to Update the Study of Congenital Haemophilia in SpainCompletedNCT01959555
10Females With Severe or Moderate Hemophilia A or B: an International Multi-center StudyCompletedNCT00936312
11Gait Evaluation in Haemophiliac PatientsCompletedNCT00824798
12Tissue Factor Pathway Inhibitor (TFPI) and Haemorrhagic Manifestations in Haemophilia A and B PatientsRecruitingNCT02540187
13Inhibitor Development in Patients With Hemophilia A Undergoing SurgeryRecruitingNCT01571934
14Platelet Function in Patients With Hemophilia AEnrolling by invitationNCT02093065
15Non 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:

33
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 36)
idTitleAuthorsYear
1
Prevalence of IVS10nt-18G/A in Calabrian patients with moderate/mild hemophilia A and relation with Factor VIII inhibitor antibodies. (26182242)
2015
2
Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity. (26278069)
2015
3
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? (25824987)
2015
4
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. (25212677)
2014
5
Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. (24911459)
2014
6
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A. (25139352)
2014
7
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. (24706524)
2014
8
Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. (24030345)
2013
9
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. (23812942)
2013
10
Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. (23460037)
2013
11
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. (21166991)
2011
12
Deep intronic variations may cause mild hemophilia A. (21689372)
2011
13
Mild hemophilia A. (19995408)
2010
14
The use of desmopressin in mild hemophilia A. (20829683)
2010
15
Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. (19422439)
2009
16
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. (19719828)
2009
17
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
18
Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. (18799938)
2008
19
Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. (18419741)
2008
20
Health-related quality of life in a cohort of adult patients with mild hemophilia A. (18284605)
2008
21
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
22
Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. (18047548)
2008
23
Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. (17261494)
2007
24
Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. (15996947)
2005
25
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
26
Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. (12640572)
2003
27
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
28
A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. (11848452)
2002
29
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)
2002
30
Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. (11754400)
2001
31
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. (9864159)
1999
32
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)
1999
33
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
34
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. (1301960)
1992
35
Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. (2107887)
1990
36
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:00057889.0F10, F8
3extracellular regionGO:00055768.5F10, F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1post-translational protein modificationGO:00436879.6F10, F8
2platelet degranulationGO:00025769.4F8, VWF
3blood coagulation, intrinsic pathwayGO:00075979.0F10, F8, VWF
4platelet activationGO:00301689.0F8, VWF
5blood coagulationGO:00075968.2F10, F8, VWF

Sources for Mild Hemophilia a

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet