MCID: MLD013
MIFTS: 35

Mild Hemophilia a malady

Blood diseases, Rare diseases categories
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Summaries for Mild Hemophilia a

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33MalaCards
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MalaCards: Mild Hemophilia a, also known as mild hereditary factor viii deficiency disease, 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

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49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
mild factor viii deficiency:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mild hemophilia a 49
mild hereditary factor viii deficiency disease 62
mild factor viii deficiency 49


External Ids:

ICD10 via Orphanet26 D66
SNOMED-CT via Orphanet59 26029002
UMLS via Orphanet63 C0272324

Related Diseases for Mild Hemophilia a

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1factor viii deficiency30.7F8
2von willebrand's disease30.2F8, VWF
3hemophilia10.8
4fibromatosis10.1
5type 1 von willebrand disease10.1
6factor xii deficiency10.1VWF
7factor xi deficiency10.1F8
8intracranial thrombosis10.0VWF, F8
9blood platelet disease10.0VWF, F8
10bernard-soulier syndrome10.0VWF, F8
11thrombotic thrombocytopenic purpura, acquired10.0F8, VWF
12hyperhomocysteinemia10.0VWF, F8
13prion disease10.0F8, VWF
14hypersensitivity reaction type ii disease10.0F8, VWF
15hypothyroidism10.0VWF, F8
16congenital heart disease10.0VWF, F8
17thrombocytosis10.0VWF, F10
18vascular disease10.0VWF, F8
19factor vii deficiency10.0F10, F8
20hemophilia b10.0F8, F10
21pregnancy loss10.0F8, F10
22disseminated intravascular coagulation10.0F10, F8
23insulin resistance10.0F8, VWF
24viral hepatitis10.0F10, F8
25acute myocardial infarction10.0VWF, F10
26hypercholesterolemia10.0F10, F8
27hepatitis10.0F8, F10
28coronary artery disease10.0VWF, F10
29type 2 diabetes mellitus10.0VWF, F8
30hemarthrosis10.0F8, F10, VWF
31hemorrhagic disease10.0F10, F8, VWF
32afibrinogenemia9.9F8, F10, VWF
33glanzmann's thrombasthenia9.9VWF, F10, F8
34antiphospholipid syndrome9.9F10, VWF, F8
35thrombophilia9.9F10, F8, VWF
36thromboembolism9.9F8, VWF, F10
37venous thrombosis9.9F10, VWF, F8
38thrombocytopenia9.9F10, VWF, F8
39factor v leiden thrombophilia9.9F10, VWF, F8
40pre-eclampsia9.9F8, F10, VWF
41cerebrovascular disease9.9F10, VWF, F8
42myocardial infarction9.9VWF, F8, F10
43systemic lupus erythematosus9.9VWF, F10, F8
44primary hyperoxaluria9.9VWF, F10, F8
45diabetes mellitus9.9F8, VWF, F10

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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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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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52PubMed
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Articles related to Mild Hemophilia a:

(show all 22)
idTitleAuthorsYear
1
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A. (23812942)
2013
2
Diagnostic testing for mild hemophilia a in patients with discrepant one-stage, two-stage, and chromogenic factor VIII:C assays. (23460037)
2013
3
Deep intronic variations may cause mild hemophilia A. (21689372)
2011
4
Mild hemophilia A. (19995408)
2010
5
Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. (19719828)
2009
6
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
7
Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. (18419741)
2008
8
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
9
Superficial fibromatosis mimicking subcutaneous hematoma: an unusual and difficult diagnosis in a patient with mild hemophilia A. (17261494)
2007
10
Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. (15996947)
2005
11
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
12
Desmopressin in mild hemophilia A: indications, limitations, efficacy, and safety. (12640572)
2003
13
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
14
A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. (11848452)
2002
15
Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. (12351418)
2002
16
Successful treatment of high titer inhibitors in mild hemophilia A with avoidance of factor VIII and immunosuppressive therapy. (11754400)
2001
17
Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo. (9864159)
1999
18
Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. (10090936)
1999
19
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
20
Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. (1301960)
1992
21
Intranasal desmopressin (DDAVP) by spray in mild hemophilia A and von Willebrand's disease type I. (2107887)
1990
22
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
50PathCards, 55Reactome, 53QIAGEN, 30KEGG, 38NCBI BioSystems Database, 54R&D Systems
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Compounds for genes affiliated with Mild Hemophilia a

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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Mild Hemophilia a according to GeneCards/GeneDecks:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1recombinate459.8F8, VWF
2tributylphosphate459.8F8, VWF
3kogenate459.8F8, VWF
4hydroxyethyl starch459.8F8, VWF
5tranexamic acid45 1110.7F8, VWF
6ristocetin459.7VWF, F8
7desmopressin45 61 29 1112.7F8, VWF
8ivig459.6VWF, F8
9rituximab45 51 1111.6F8, VWF
10thromboxane a245 2410.6VWF, F8
11tinzaparin45 1110.6VWF, F10
12ppack459.5VWF, F10
13tirofiban45 1110.5VWF, F10
14abciximab45 1110.5F10, VWF
15guanidine45 24 1111.5F10, VWF
16clopidogrel45 51 24 1112.5F10, VWF
17leupeptin459.5VWF, F10
18dermatan sulfate459.5F10, VWF
19kaolin459.5F10, F8
20latex459.4VWF, F8
21cacl2459.4F8, F10
22guanidine hydrochloride459.4VWF, F10
23cardiolipin45 1110.4F10, F8
24aprotinin45 1110.3VWF, F10
25homocysteine45 2410.3F8, VWF
26agarose459.3VWF, F8
27n-ethylmaleimide45 1110.3F10, VWF
28prednisolone45 29 1111.2VWF, F8
29polyethylene glycol459.2F10, F8
30biotin45 24 1111.2F10, VWF
31rfviii459.0F8, F10, VWF
32hirudin459.0VWF, F8, F10
33warfarin45 51 24 1112.0VWF, F10, F8
34acetaminophen45 3 51 24 1113.0F8, VWF, F10
35citrate458.9F10, F8, VWF
36phosphatidylserine45 29 1110.9F10, VWF, F8
37aspirin45 51 29 2411.9F10, VWF, F8
38fibrinogen458.9VWF, F10, F8
39phospholipid458.9VWF, F10, F8
40glutamine458.9VWF, F10, F8
41lactate458.9F8, F10, VWF
42aspartate458.9F8, VWF, F10
43heparin45 29 24 1111.9F8, VWF, F10
44vegf458.8F8, F10, VWF
45carbohydrates458.8VWF, F10
46arginine458.8F8, F10, VWF
47alanine458.8F10, F8, VWF
48adp45 29 2410.8F8, F10, VWF
49estrogen458.8VWF, F10, F8
50cysteine458.7F8, F10, VWF

GO Terms for genes affiliated with Mild Hemophilia a

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mild Hemophilia a

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet