MCID: HMP007
MIFTS: 67

Hemophilia malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Hemophilia

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21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 4CDC, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 Hemophilia is a bleeding disorder that slows the blood clotting process. people with this condition experience prolonged bleeding following an injury, surgery, or having a tooth pulled. in severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. the major types of this condition are hemophilia a and hemophilia b. although the two types have very similar signs and symptoms, they are caused by mutations in different genes. people with an unusual form of hemophilia b, known as hemophilia b leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations. last updated: 1/10/2012

MalaCards: Hemophilia, also known as hemophilia, hereditary, is related to hemophilia b and hepatitis. An important gene associated with Hemophilia is F8 (coagulation factor VIII, procoagulant component), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Integrin alphaIIb beta3 signaling. The drugs recombinant fviia and factor ix,recombinant and the compounds tributylphosphate and cacl2 have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related mouse phenotypes are hematopoietic system and cardiovascular system.

Genetics Home Reference:21 Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.

MedlinePlus:34 Hemophilia is a rare disorder in which the blood does not clot normally. it is usually inherited. hemophilia usually occurs in males. if you have hemophilia, you have little or no clotting factor. clotting factor is a protein needed for normal blood clotting. without it, you may bleed for a long time after an injury or accident. you also may bleed into your knees, ankles, and elbows. bleeding in the joints causes pain and, if not treated, can lead to arthritis. bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. the main symptoms of hemophilia are excessive bleeding and easy bruising. blood tests can tell if you have it. the main treatment is injecting the missing clotting factor into the bloodstream. you may need it on a regular basis, or just when bleeding occurs. nih: national heart, lung, and blood institute

CDC:4 Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. People with hemophilia can live full lives and enjoy most of the activities that other people do. If you have hemophilia, or know someone who does, it’s important to learn how to stay as healthy as possible.

Wikipedia:65 Haemophilia (/hi?m??f?li?/; also spelled hemophilia in North America, from the Greek haima ????... more...

Aliases & Classifications for Hemophilia

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62UMLS, 65Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 49Orphanet, 34MedlinePlus, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hemophilia:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hemophilia 65 43 22 21 49 34
hemophilia, hereditary 21
hemophilia, familial 21
hemophilia a 62


External Ids:

ICD10 via Orphanet26 D67, D66
SNOMED-CT via Orphanet59 90935002, 28293008, 234440005
UMLS via Orphanet63 C0684275

Related Diseases for Hemophilia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hemophilia B family:

hemophilia Acquired Hemophilia
Hemophilia a, Acquired Hemophilia a, Congenital
Severe Hemophilia a Severe Hemophilia B

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

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia b31.6F2, F9, F10, F11, F3, F8
2hepatitis30.7F8, F10, F9, F2
3hepatitis c30.6F8, F9, F2
4von willebrand's disease30.6F2, VWF, F9, F3, F8
5hemarthrosis30.5VWF, F9, F10, F3, F8
6arthropathy30.5F8, F9
7factor viii deficiency30.4F2, VWF, F9, F10, F11, CPB2
8factor vii deficiency30.4F8, F5, F2, F9, F10, F3
9cardiac tamponade30.3F8
10lupus erythematosus30.2F5, F3, F2
11leukemia30.1F8, F11, F10, F9
12systemic lupus erythematosus30.1F2, VWF, F10, F3, F8
13factor xi deficiency30.0F9, F11, F3, F8, F5, F2
14hepatitis b30.0F2, F9, F8
15coronary artery disease30.0VWF, F9, F10, F3
16central retinal vein occlusion29.9F5
17factor v deficiency29.9F5, F8, F3, F2
18hepatocellular carcinoma29.9F8, F10, F9, F2
19myocardial infarction29.9VWF, F9, F10, F11, F3, F8
20combined factor v and viii deficiency29.9F5, F8
21factor xii deficiency29.9F3, F5
22acute myocardial infarction29.8VWF, F10, F3
23thrombophilia29.8F9, F10, F11, F3, F8, F5
24venous thrombosis29.8F5, F8, F3, F2, VWF, F9
25hemorrhagic disease29.8F11, F3, F8, F5, F10, F9
26portal vein thrombosis29.8F2, F8, F5
27disseminated intravascular coagulation29.7F2, F9, F10, CPB2, F3, F8
28diabetes mellitus29.7VWF, F10, F8
29thrombocytopenia29.7F5, F8, F3, F10, F2, VWF
30factor x deficiency29.6F2, F9, F10, F3, F5
31pulmonary embolism29.6F2, F9, F10, F3, F5
32afibrinogenemia29.5F2, VWF, F10, F11, F3, F8
33acquired hemophilia11.0
34severe hemophilia a10.8
35severe hemophilia b10.6
36mild hemophilia a10.5
37mild hemophilia b10.3
38hemophilia a, congenital10.3
39hepatitis c virus10.3
40arthritis10.2
41endotheliitis10.2
42hemophilia a, acquired10.2
43hiv-110.2
44moderately severe hemophilia a10.2
45moderately severe hemophilia b10.2
46blindness10.1
47thrombophlebitis10.1F8
48warfarin sensitivity10.1F9
49carotid artery thrombosis10.1F3
50purpura fulminans10.1F5

Graphical network of the top 20 diseases related to Hemophilia:



Diseases related to hemophilia

Symptoms for Hemophilia

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Drugs & Therapeutics for Hemophilia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Hemophilia

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Sources:
22GTR
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Genetic tests related to Hemophilia:

id Genetic test Affiliating Genes
1 Hemophilia22

Anatomical Context for Hemophilia

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Sources:
33MalaCards
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MalaCards organs/tissues related to Hemophilia:

33
Brain, Testes, Heart, Lung, Liver, T cells, Skeletal muscle, Endothelial, B cells, Whole blood, Skin, Bone, Bone marrow, Colon, Thyroid, Breast, Myeloid, Kidney, Adipocyte

Animal Models for Hemophilia or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Hemophilia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.5F8, F3, F11, F9, VWF, F2
2MP:00053856.8F2, VWF, F9, F10, F11, F3
3MP:00053876.6F2, VWF, F9, F11, CPB2, F3
4MP:00053766.1F5, F2, VWF, F9, F10, F11
5MP:00107686.1F2, VWF, F9, F10, F11, CPB2

Publications for Hemophilia

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Sources:
52PubMed
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Articles related to Hemophilia:

(show top 50)    (show all 1445)
idTitleAuthorsYear
1
FVIIa as used pharmacologically is not TF dependent in hemophilia B mice. (24425804)
2014
2
Platelet gene therapy corrects the hemophilic phenotype in immunocompromised hemophilia A mice transplanted with genetically manipulated human cord blood stem cells. (24269957)
2014
3
Guidelines for the management of hemophilia. (22776238)
2013
4
Is a decrease of microparticles related to improvement of hemostasis after FVIII injection in hemophilia A patients treated on demand? (23231463)
2013
5
What is the role of prophylaxis in the improvement of health-related quality of life of patients with hemophilia? (24319162)
2013
6
Risk factors for high-titer inhibitor development in children with hemophilia A: results of a cohort study. (24199202)
2013
7
Both Hemophilia Health Care Providers and Hemophilia A Carriers Report That Carriers Have Excessive Bleeding. (24309601)
2013
8
Immunosuppression for acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). (22517903)
2012
9
Novel molecules for the correction of factor Xa generation and phenotype in hemophilia. (22405049)
2012
10
Re: 24-year-old man with previously diagnosed hemophilia. (22745259)
2012
11
Factor XIII in the treatment of hemophilia A. (22256823)
2012
12
The IgG autoimmune response in postpartum acquired hemophilia A targets mainly the A1a1 domain of FVIII. (22784315)
2012
13
Total arch replacement for acute aortic dissection (Stanford A) in a patient with hemophilia A. (22365017)
2012
14
A zymogen-like factor Xa variant corrects the coagulation defect in hemophilia. (22020385)
2011
15
Poly-N-acetylglucosamine fibers amplify the effectiveness of recombinant factor VIIA on clot formation in hemophilia B canine blood. (21814114)
2011
16
Diagnosis, laboratory aspects and management of acquired hemophilia A. (20407848)
2010
17
The expanding menagerie: animal models of hemophilia A. (21251193)
2010
18
Rituximab and immune tolerance in severe hemophilia A: a consecutive national cohort. (19320828)
2009
19
Favourable progression of acquired hemophilia-associated bullous pemphigoid. (19451049)
2009
20
Frequency of factor VIII inhibitor in the patients with hemophilia A and environmental risk factors for inhibitor development]. (19968075)
2009
21
A cellular viewpoint of anti-FVIII immune response in hemophilia A. (19165635)
2009
22
Acquired hemophilia a in a patient with lumbar disc herniation: a case report and review of the literature. (19365240)
2009
23
Endovascular abdominal aortic aneurysm repair in a patient with severe hemophilia B. (19281292)
2009
24
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. (16972227)
2007
25
Acquired hemophilia: a case report of 2 patients with acquired factor VIII inhibitor treated with rituximab plus a short course of steroid and review of the literature. (17911199)
2007
26
Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. (16926287)
2006
27
Rapid decrease in high titer of factor VIII inhibitors upon immunosuppressive treatment in severe postpartum acquired hemophilia A. (15103761)
2004
28
A surgical case of subdural hematoma with hemophilia A]. (15529790)
2004
29
Expression of human coagulation factor VIII in adipocytes transduced with the simian immunodeficiency virus agmTYO1-based vector for hemophilia A gene therapy. (14737084)
2004
30
A new potent hFIX plasmid for hemophilia B gene therapy. (15290864)
2004
31
Functional analysis of the EGF-like domain mutations Pro55Ser and Pro55Leu, which cause mild hemophilia B. (12871416)
2003
32
Evaluation of DHPLC in the analysis of hemophilia A. (11179760)
2001
33
Combined hemophilia A and type 2 von Willebrand's disease: defect of both factor VIII level and factor VIII binding capacity of von Willebrand factor. (11602423)
2001
34
Mechanism and kinetics of factor VIII inactivation: study with an IgG4 monoclonal antibody derived from a hemophilia A patient with inhibitor. (9657749)
1998
35
Successful treatment of acquired hemophilia with oral immunosuppressive therapy. (9245226)
1997
36
Cerebral infarct associated with factor V Leiden mutation in a boy with hemophilia A. (9371534)
1997
37
An ex vivo keratinocyte model for gene therapy of hemophilia B. (9242498)
1997
38
Bedside measurement of factor VIII:C activity in individuals with hemophilia A. (8619397)
1996
39
Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type- dependent sex ratio of mutation frequencies. (8644728)
1996
40
Moderation of hemophilia A phenotype by the factor V R506Q mutation. (8695835)
1996
41
Continuous infusion of factor concentrates: review of use in hemophilia A and demonstration of safety and efficacy in hemophilia B. (7571993)
1995
42
Concomitant treatment with factor IX concentrates and antifibrinolytics in hemophilia B. (7571994)
1995
43
Airway obstruction in hemophilia (factor VIII deficiency): a 28-year institutional review. (8022238)
1994
44
Gene therapy of hemophilia B. (8236102)
1993
45
Orthotopic liver transplantation in a patient with combined hemophilia A and B. (2105634)
1990
46
Group B streptococcal polyarthritis complicating hemophilia B. (2120893)
1990
47
Canine hemophilia B resulting from a point mutation with unusual consequences. (2481310)
1989
48
Heterogeneity of the factor IX locus in nine hemophilia B inhibitor patients. (3029178)
1987
49
Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients. (7059689)
1982
50
Tricuspid atresia with christmas disease (hemophilia B). Report of a case. (1117747)
1975

Variations for Hemophilia

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Expression for genes affiliated with Hemophilia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hemophilia

Search GEO for disease gene expression data for Hemophilia.

Pathways for genes affiliated with Hemophilia

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Sources:
50PathCards, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN, 54R&D Systems
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Pathways related to Hemophilia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1VWF, F8, F5
2
Show member pathways
9.0VWF, F2
39.0VWF, F2
4
Show member pathways
8.9F2, F10, F9
5
Show member pathways
8.4F9, F10, CPB2, F2
6
Show member pathways
7.2F2, F5, F8, F3, F11, F10
7
Show member pathways
6.6F11, F9, F10, F2, F3, F8
8
Show member pathways
6.6VWF, F10, F5, F9, F11, F2
9
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
6.1F5, F8, F3, CPB2, F11, F9

Compounds for genes affiliated with Hemophilia

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

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1tributylphosphate459.4F8, VWF, F9
2cacl2459.0F5, F10, F9, F3, F8
3inogatran458.9F2, F5, F3
4organon458.9F2, F9, F3, F10
5acenocoumarol45 51 1110.8F9, F2, F3, F5
6ecarin458.8F10, F5, F3, F2
7spectrozyme458.8F5, F3, F2, F10
8danaparoid458.8F10, F2, F5, F3
9ximelagatran45 119.8F2, F10, F5, F3
10rfviii458.8F8, F5, VWF, F9, F10
11heparinoids458.8F5, F3, F2, F10
12bivalirudin45 119.7F3, F10, F2, F5
13dextran sulfate458.7F5, F3, F10, F11, F9
14argatroban45 119.7F5, F2, F10, F3
15protamine sulfate458.7F10, F5, F3, F2
16hydroxyethyl starch458.6F2, VWF, F3, F8
17phosphatidylethanolamine45 119.5F5, F2, F8, F9
18ppack458.5F10, F2, VWF, F3
19fondaparinux458.5F5, F10, F9, F2, F3
20tirofiban45 119.5F10, F3, VWF, F2
21coumarins458.5F10, F2, F5, F3, F9
22cardiolipin45 119.5F10, F2, F5, F3, F8
23gamma-carboxyglutamic acid458.5F5, F10, F9, F2, F3
24coumarin45 3 51 2411.4F5, F3, F10, F9, F2
25tranexamic acid45 119.4VWF, F3, F9, F2, F8
26abciximab45 119.4VWF, F2, F10, F3
27cyclophosphamide45 51 1110.4F8, F3, F9, VWF, F5
28endotoxin458.4F5, F8, F3, F11, F9
29kaolin458.2F2, F9, F10, F3, F8, F5
30clopidogrel45 51 24 1110.9F3, F10, VWF, F2
31simvastatin45 51 61 29 24 1112.9F2, VWF, F10, F3, F5
32acetaminophen45 3 51 24 1111.9F10, F5, F2, F9, F8, VWF
33aspirin45 51 29 2410.8F2, F5, F10, F8, F3, VWF
34kininogen457.7F9, F3, F2, F11, VWF, F5
35warfarin45 51 24 1110.6F3, F10, F9, VWF, F2, F8
36citrate457.5F3, F10, F8, F9, VWF, F2
37phosphatidylserine45 29 119.5F2, VWF, F9, F10, F3, F5
38ristocetin457.5F3, F8, F5, VWF, F2, F9
39homocysteine45 248.5F2, VWF, F5, F8, F9, F11
40desmopressin45 61 29 1110.5F8, F5, F3, F11, F9, VWF
41aspartate457.4F2, F9, VWF, F10, F3, F8
42aprotinin45 118.4F2, F5, F3, F11, F10, F9
43dermatan sulfate457.4F2, VWF, F5, F3, F10, F9
44creatinine457.3VWF, F9, F5, F2, F8, F3
45alanine457.3F9, VWF, F2, F10, F8, F5
46hirudin457.0F11, F10, F9, VWF, F2, F3
47phospholipid457.0VWF, F9, F10, F11, F2, F3
48serine456.8F10, F5, F8, F3, F11, F9
49heparin45 29 24 119.5F5, F8, F3, CPB2, F11, F10
50fibrinogen456.5F11, F10, F9, VWF, F2, CPB2

GO Terms for genes affiliated with Hemophilia

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16Gene Ontology
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Cellular components related to Hemophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:0312339.7F3, F10
2platelet alpha granule lumenGO:0310939.1VWF, F8, F5
3endoplasmic reticulum lumenGO:0057888.9F10, F9, F2
4Golgi lumenGO:0057968.8F10, F9, F2
5extracellular spaceGO:0056157.6F2, F11, CPB2, F3, F8, F5
6extracellular regionGO:0055767.1F5, F2, VWF, F9, F10, F11
7plasma membraneGO:0058866.9F2, F9, F10, F11, F3, F8

Biological processes related to Hemophilia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:0075989.6F9, F10, F3
2negative regulation of fibrinolysisGO:0519189.2CPB2, F2
3acute-phase responseGO:0069539.2F2, F8
4platelet degranulationGO:0025769.2VWF, F8, F5
5fibrinolysisGO:0427309.2F2, CPB2
6peptidyl-glutamic acid carboxylationGO:0171879.1F10, F9, F2
7cell adhesionGO:0071559.1F5, F8, VWF
8post-translational protein modificationGO:0436878.9F10, F9, F2
9response to woundingGO:0096118.7VWF, F2
10proteolysisGO:0065088.6F2, F9, F10, CPB2
11platelet activationGO:0301688.4F5, F8, VWF, F2
12blood coagulation, intrinsic pathwayGO:0075977.7F2, VWF, F9, F10, F11, F8
13blood coagulationGO:0075966.3F5, F2, VWF, F9, F10, F11

Molecular functions related to Hemophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.5F3, VWF
2copper ion bindingGO:0055079.4F5, F8
3serine-type endopeptidase activityGO:0042527.6F5, F8, F11, F10, F9, F2
4protein bindingGO:0055156.8F2, VWF, F10, F11, F3, F8

Products for genes affiliated with Hemophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophilia

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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