MCID: MLD013
MIFTS: 30

Mild Hemophilia a malady

Blood diseases, Rare diseases categories

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 factor viii deficiency and hemophilia a. 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

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Sources:
47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Mild Hemophilia a, Aliases & Descriptions:

Name: Mild Hemophilia a 47
Mild Hereditary Factor Viii Deficiency Disease 60
 
Mild Factor Viii Deficiency 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
mild factor viii deficiency:
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal


External Ids:

Orphanet47 169808
ICD10 via Orphanet26 D66
UMLS via Orphanet61 C0272324

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 45)
idRelated DiseaseScoreTop Affiliating Genes
1factor viii deficiency31.1F8
2hemophilia a31.0VWF, F10, F8
3von willebrand's disease30.4VWF, F8
4hemophilia10.9
5factor xii deficiency10.4VWF
6factor xi deficiency, autosomal recessive10.4F8
7fibromatosis10.1
8type 2n von willebrand disease10.1
9intracranial thrombosis10.1VWF, F8
10blood platelet disease10.1VWF, F8
11thrombotic thrombocytopenic purpura, acquired10.1VWF, F8
12bernard-soulier syndrome, type c10.1VWF, F8
13hyperhomocysteinemia10.1VWF, F8
14brain disease10.1F8, VWF
15hypersensitivity reaction type ii disease10.1F8, VWF
16hypothyroidism10.1F8, VWF
17congenital heart disease10.0F8, VWF
18atrial fibrillation10.0F10, VWF
19thrombocytosis10.0F10, VWF
20vascular disease10.0F8, VWF
21factor vii deficiency10.0F10, F8
22hemophilia b10.0F10, F8
23disseminated intravascular coagulation10.0F8, F10
24diabetes mellitus, noninsulin-dependent10.0VWF, F8
25viral hepatitis9.9F10, F8
26acute myocardial infarction9.9VWF, F10
27hypercholesterolemia, familial9.9F10, F8
28hepatitis9.8F10, F8
29coronary artery disease9.8F10, VWF
30hemarthrosis9.8F8, F10, VWF
31hemorrhagic disease9.8F8, F10, VWF
32afibrinogenemia9.8VWF, F10, F8
33thrombophilia due to activated protein c resistance9.8F8, F10, VWF
34glanzmann thrombasthenia9.8F8, F10, VWF
35antiphospholipid syndrome9.8F8, F10, VWF
36thrombophilia9.8VWF, F10, F8
37thrombophilia due to thrombin defect9.8F8, F10, VWF
38thrombocytopenia9.8VWF, F10, F8
39factor v leiden thrombophilia9.8F8, F10, VWF
40preeclampsia/eclampsia 19.8F8, F10, VWF
41stroke, ischemic9.8F8, F10, VWF
42myocardial infarction9.8F8, F10, VWF
43systemic lupus erythematosus9.8VWF, F10, F8
44primary hyperoxaluria9.8VWF, F10, F8
45diabetes mellitus, insulin-dependent9.7F8, 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

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Drugs & Therapeutics for Mild Hemophilia a

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Drug clinical trials:

Search ClinicalTrials for Mild Hemophilia a

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:

31
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 32)
idTitleAuthorsYear
1
Overrepresentation of missense mutations in mild hemophilia A patients from Belgium: founder effect or independent occurrence? (25824987)
2015
2
Life-threatening bleeding in a patient with mild hemophilia A and heterozygosity for von Willebrand disease Type 2N. (25212677)
2014
3
Desmopressin responsiveness at a capped dose of 15a88I1g in type 1 von Willebrand disease and mild hemophilia A. (24911459)
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
Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. (12640572)
2003
23
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
24
A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. (11848452)
2002
25
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)
2002
26
Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. (11754400)
2001
27
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. (9864159)
1999
28
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)
1999
29
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
30
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. (1301960)
1992
31
Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. (2107887)
1990
32
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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Compounds for genes affiliated with Mild Hemophilia a

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Compounds related to Mild Hemophilia a according to GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1recombinate439.8F8, VWF
2tributylphosphate439.8F8, VWF
3kogenate439.8F8, VWF
4hydroxyethyl starch439.8F8, VWF
5tranexamic acid43 1210.7F8, VWF
6ristocetin439.7VWF, F8
7desmopressin43 59 28 1212.7F8, VWF
8ivig439.6VWF, F8
9rituximab43 49 1211.6F8, VWF
10thromboxane a243 2410.6VWF, F8
11tinzaparin43 1210.6VWF, F10
12ppack439.5VWF, F10
13tirofiban43 1210.5VWF, F10
14abciximab43 1210.5F10, VWF
15guanidine43 24 1211.5F10, VWF
16clopidogrel43 49 24 1212.5F10, VWF
17leupeptin439.5VWF, F10
18dermatan sulfate439.5F10, VWF
19kaolin439.5F10, F8
20latex439.4VWF, F8
21cacl2439.4F8, F10
22guanidine hydrochloride439.4VWF, F10
23cardiolipin43 1210.4F10, F8
24aprotinin43 1210.3VWF, F10
25homocysteine43 2410.3F8, VWF
26agarose439.3VWF, F8
27n-ethylmaleimide43 1210.3F10, VWF
28prednisolone43 28 1211.2VWF, F8
29polyethylene glycol439.2F10, F8
30biotin43 24 1211.2F10, VWF
31rfviii439.0F8, F10, VWF
32hirudin439.0VWF, F8, F10
33warfarin43 49 24 1212.0VWF, F10, F8
34acetaminophen43 2 49 24 1213.0F8, VWF, F10
35citrate438.9F10, F8, VWF
36phosphatidylserine43 28 1210.9F10, VWF, F8
37aspirin43 49 28 2411.9F10, VWF, F8
38fibrinogen438.9VWF, F10, F8
39phospholipid438.9VWF, F10, F8
40glutamine438.9VWF, F10, F8
41lactate438.9F8, F10, VWF
42aspartate438.9F8, VWF, F10
43heparin43 28 24 1211.9F8, VWF, F10
44vegf438.8F8, F10, VWF
45carbohydrates438.8VWF, F10
46arginine438.8F8, F10, VWF
47alanine438.8F10, F8, VWF
48adp43 28 2410.8F8, F10, VWF
49estrogen438.8VWF, F10, F8
50cysteine438.7F8, F10, VWF

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:00310939.0F8, VWF
2extracellular regionGO:00055768.5F8, F10, VWF

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

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.3F8, VWF
2platelet degranulationGO:00025769.0F8, VWF
3blood coagulation, intrinsic pathwayGO:00075978.5F8, VWF, F10
4blood coagulationGO:00075968.4F8, F10, VWF

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.0F8, F10

Products for genes affiliated with Mild Hemophilia a

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mild Hemophilia a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet