MCID: MLD013
MIFTS: 35

Mild Hemophilia a malady

Blood diseases, Rare diseases categories
Download this MalaCard

Summaries for Mild Hemophilia a

About this section


Fully expand this MalaCard
MalaCards based summary: Mild Hemophilia a, also known as mild factor viii deficiency, is related to factor viii deficiency and von willebrand's disease. An important gene associated with Mild Hemophilia a is F8 (coagulation factor VIII, procoagulant component), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Collagen biosynthesis and modifying enzymes. The compounds recombinate and tributylphosphate have been mentioned in the context of this disorder. Affiliated tissues include testes.

Aliases & Classifications for Mild Hemophilia a

About this section
Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Mild Hemophilia a, Aliases & Descriptions:

Name: Mild Hemophilia a 48
Mild Factor Viii Deficiency 48 62
 
Mild Hereditary Factor Viii Deficiency Disease 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
mild factor viii deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 D66
UMLS via Orphanet63 C0272324

Related Diseases for Mild Hemophilia a

About this section

Diseases in the Mild Hemophilia a family:

Mild Hemophilia B

Diseases related to Mild Hemophilia a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1factor viii deficiency31.2F8
2von willebrand's disease30.4VWF, F8
3hemophilia10.9
4factor xii deficiency10.4VWF
5factor xi deficiency10.4F8
6type 1 von willebrand disease10.3
7intracranial thrombosis10.1VWF, F8
8blood platelet disease10.1VWF, F8
9fibromatosis10.1
10type 2n von willebrand disease10.1
11thrombotic thrombocytopenic purpura, acquired10.1VWF, F8
12bernard-soulier syndrome10.1VWF, F8
13hyperhomocysteinemia10.1VWF, F8
14prion disease10.1F8, VWF
15hypersensitivity reaction type ii disease10.1F8, VWF
16hypothyroidism10.1F8, VWF
17congenital heart disease10.0F8, VWF
18thrombocytosis10.0F10, VWF
19vascular disease10.0F8, VWF
20factor vii deficiency10.0F10, F8
21hemophilia b10.0F10, F8
22pregnancy loss10.0F10, F8
23disseminated intravascular coagulation10.0F8, F10
24insulin resistance10.0VWF, F8
25viral hepatitis10.0F10, F8
26acute myocardial infarction9.9VWF, F10
27hypercholesterolemia9.9F10, F8
28hepatitis9.8F10, F8
29coronary artery anomaly9.8F10, VWF
30type 2 diabetes mellitus9.8F8, VWF
31hemarthrosis9.8F8, F10, VWF
32hemorrhagic disease9.8F8, F10, VWF
33afibrinogenemia9.8VWF, F10, F8
34glanzmann's thrombasthenia9.8F8, F10, VWF
35antiphospholipid syndrome9.8F8, F10, VWF
36thrombophilia9.8VWF, F10, F8
37thromboembolism9.8F8, F10, VWF
38venous thrombosis9.8F8, F10, VWF
39thrombocytopenia9.8VWF, F10, F8
40factor v leiden thrombophilia9.8F8, F10, VWF
41pre-eclampsia9.8F8, F10, VWF
42cerebrovascular disease9.8F8, F10, VWF
43myocardial infarction9.8F8, F10, VWF
44systemic lupus erythematosus9.8VWF, F10, F8
45primary hyperoxaluria9.8VWF, F10, F8
46diabetes mellitus9.7F8, F10, VWF

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



Diseases related to mild hemophilia a

Symptoms for Mild Hemophilia a

About this section

Drugs & Therapeutics for Mild Hemophilia a

About this section

Drug clinical trials:

Search ClinicalTrials for Mild Hemophilia a

Search NIH Clinical Center for Mild Hemophilia a

Genetic Tests for Mild Hemophilia a

About this section

Anatomical Context for Mild Hemophilia a

About this section

MalaCards organs/tissues related to Mild Hemophilia a:

32
Testes

Animal Models for Mild Hemophilia a or affiliated genes

About this section

Publications for Mild Hemophilia a

About this section

Articles related to Mild Hemophilia a:

(show all 33)
idTitleAuthorsYear
1
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. (25212677)
2014
2
Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. (24911459)
2014
3
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A. (25139352)
2014
4
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. (24706524)
2014
5
Clinical efficacy and determinants of response to treatment with desmopressin in mild hemophilia a. (24030345)
2013
6
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. (23812942)
2013
7
Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. (23460037)
2013
8
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. (21166991)
2011
9
Deep intronic variations may cause mild hemophilia A. (21689372)
2011
10
Mild hemophilia A. (19995408)
2010
11
The use of desmopressin in mild hemophilia A. (20829683)
2010
12
Characterization of a novel mutation in the F8 promoter region associated with mild hemophilia A and resistance to DDAVP therapy. (19422439)
2009
13
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. (19719828)
2009
14
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
15
Maxillary hemophilic pseudotumor in a patient with mild hemophilia A. (18799938)
2008
16
Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. (18419741)
2008
17
Health-related quality of life in a cohort of adult patients with mild hemophilia A. (18284605)
2008
18
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
19
Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. (18047548)
2008
20
Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. (17261494)
2007
21
Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. (15996947)
2005
22
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
23
Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. (12640572)
2003
24
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
25
A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. (11848452)
2002
26
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)
2002
27
Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. (11754400)
2001
28
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. (9864159)
1999
29
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)
1999
30
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
31
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. (1301960)
1992
32
Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. (2107887)
1990
33
Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. (2495245)
1989

Variations for Mild Hemophilia a

About this section

Expression for genes affiliated with Mild Hemophilia a

About this section
Expression patterns in normal tissues for genes affiliated with Mild Hemophilia a

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

Pathways for genes affiliated with Mild Hemophilia a

About this section

Compounds for genes affiliated with Mild Hemophilia a

About this section

Compounds related to Mild Hemophilia a according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1recombinate449.8F8, VWF
2tributylphosphate449.8VWF, F8
3kogenate449.8VWF, F8
4hydroxyethyl starch449.8F8, VWF
5tranexamic acid44 1110.7F8, VWF
6ristocetin449.7VWF, F8
7desmopressin44 61 28 1112.7F8, VWF
8ivig449.6F8, VWF
9rituximab44 50 1111.6F8, VWF
10thromboxane a244 2410.6VWF, F8
11tinzaparin44 1110.6F10, VWF
12ppack449.5F10, VWF
13tirofiban44 1110.5VWF, F10
14abciximab44 1110.5F10, VWF
15guanidine44 24 1111.5F10, VWF
16clopidogrel44 50 24 1112.5VWF, F10
17leupeptin449.5F10, VWF
18dermatan sulfate449.5F10, VWF
19kaolin449.5F8, F10
20latex449.4F8, VWF
21cacl2449.4F8, F10
22guanidine hydrochloride449.4VWF, F10
23cardiolipin44 1110.4F8, F10
24aprotinin44 1110.3F10, VWF
25homocysteine44 2410.3VWF, F8
26agarose449.3F8, VWF
27n-ethylmaleimide44 1110.3F10, VWF
28prednisolone44 28 1111.2F8, VWF
29polyethylene glycol449.2F10, F8
30biotin44 24 1111.2F10, VWF
31rfviii449.0F8, F10, VWF
32hirudin449.0F8, F10, VWF
33warfarin44 50 24 1112.0VWF, F10, F8
34acetaminophen44 2 50 24 1113.0F8, F10, VWF
35citrate448.9F8, F10, VWF
36phosphatidylserine44 28 1110.9VWF, F10, F8
37aspirin44 50 28 2411.9VWF, F10, F8
38fibrinogen448.9VWF, F10, F8
39phospholipid448.9F8, F10, VWF
40glutamine448.9F8, F10, VWF
41lactate448.9F8, F10, VWF
42aspartate448.9F8, F10, VWF
43heparin44 28 24 1111.9VWF, F10, F8
44vegf448.8VWF, F10, F8
45carbohydrates448.8F10, VWF
46arginine448.8F8, F10, VWF
47alanine448.8VWF, F10, F8
48adp44 28 2410.8F8, F10, VWF
49estrogen448.8F8, F10, VWF
50cysteine448.7F8, F10, VWF

GO Terms for genes affiliated with Mild Hemophilia a

About this section

Cellular components related to Mild Hemophilia a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0F8, VWF
2extracellular regionGO:0055768.5F8, F10, VWF

Biological processes related to Mild Hemophilia a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.3F8, VWF
2platelet degranulationGO:0025769.0F8, VWF
3blood coagulation, intrinsic pathwayGO:0075978.5F8, F10, VWF
4blood coagulationGO:0075968.4VWF, F10, F8

Molecular functions related to Mild Hemophilia a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.0F8, F10

Products for genes affiliated with Mild Hemophilia a

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Mild Hemophilia a

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet