MCID: HMP007
MIFTS: 59

Hemophilia malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Hemophilia

About this section

Hemophilia, Aliases & Descriptions:

Name: Hemophilia 63 41 21 22 32 3
Hemophilia, Hereditary 21
Hemophilia, Familial 21
 
Hemophilia, Nos 60
Hemophilia a 60


Classifications:

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


Summaries for Hemophilia

About this section


NIH Rare Diseases:41 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 based summary: Hemophilia, also known as hemophilia, hereditary, is related to hemophilia b and cardiac tamponade. 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 factor viii and recombinant fviia 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:32 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:3 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.

Related Diseases for Hemophilia

About this section

Diseases in the Hemophilia family:

Hemophilia B Hemophilia a
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 Suite gene sharing:

(show top 50)    (show all 215)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia b31.0F8, F10, F3, F11, F9, F2
2cardiac tamponade30.9F8
3factor viii deficiency30.8F5, F8, F3, F9
4arthropathy30.8F8, F9
5hepatitis c30.6F8, F9, F2
6hepatitis30.6F8, F10, F9, F2
7central retinal vein occlusion30.5F5
8hemarthrosis30.3F8, F3, F10, VWF, F9
9glanzmann thrombasthenia30.3VWF
10factor v and factor viii, combined deficiency of30.3F5, F8
11von willebrand's disease30.2F8, F3, F9, VWF, F2
12lupus erythematosus30.1F5, F2, F3
13hemophilia a30.1F2, VWF, F9, F10, F11, CPB2
14leukemia30.0F9, F10, F8, F11
15hepatitis b29.9F8, F2, F9
16liver disease29.9F3, F2, F5
17coronary artery disease29.9VWF, F10, F9, F3
18factor vii deficiency29.8F2, F9, F10, F3, F8, F5
19acute myocardial infarction29.8VWF, F3, F10
20portal vein thrombosis29.7F8, F5, F2
21factor v deficiency29.7F5, F8, F3, F2
22hepatocellular carcinoma29.7F8, F9, F2, F10
23factor xii deficiency29.6F5, F3, F9, VWF
24systemic lupus erythematosus29.6F3, F2, F8, F10, VWF
25atrial fibrillation29.6VWF, F2, F10
26factor x deficiency29.2F2, F9, F10, F5, F3
27pulmonary embolism29.2F5, F10, F3, F2, F9
28factor xi deficiency, autosomal recessive29.2F3, F8, F5, F11, F9, F2
29myocardial infarction29.2F10, VWF, F11, F8, F3, F9
30disseminated intravascular coagulation28.9F2, F9, F10, CPB2, F3, F8
31thrombocytopenia28.9F10, F3, F8, F5, F9, VWF
32thrombophilia28.6F2, VWF, F9, F10, F11, F3
33hemorrhagic disease28.6F5, F8, F2, F3, F11, F10
34afibrinogenemia28.5F2, VWF, F5, F8, F3, F11
35acquired hemophilia11.0
36severe hemophilia a10.9
37severe hemophilia b10.6
38mild hemophilia a10.6
39thrombophlebitis10.5F8
40coumarin resistance10.5F9
41carotid artery thrombosis10.5F3
42sagittal sinus thrombosis10.4F5
43homocysteinemia10.4F5
44mild hemophilia b10.4
45angiodysplasia10.4VWF
46moderately severe hemophilia a10.3
47hepatitis c virus10.3
48hemophilia a, congenital10.3
49factor xiii deficiency10.3F3, F5
50arthritis10.3

Graphical network of the top 20 diseases related to Hemophilia:



Diseases related to hemophilia

Symptoms for Hemophilia

About this section

Drugs & Therapeutics for Hemophilia

About this section

Genetic Tests for Hemophilia

About this section

Genetic tests related to Hemophilia:

id Genetic test Affiliating Genes
1 Hemophilia22

Anatomical Context for Hemophilia

About this section

MalaCards organs/tissues related to Hemophilia:

31
Brain, Testes, Heart, Liver, Lung, T cells, Skeletal muscle, Endothelial, Whole blood, B cells, Bone, Skin, Bone marrow, Colon, Adipocyte, Kidney, Thyroid, Breast, Myeloid, Neutrophil

Animal Models for Hemophilia or affiliated genes

About this section

MGI Mouse Phenotypes related to Hemophilia:

35
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

About this section

Articles related to Hemophilia:

(show top 50)    (show all 1563)
idTitleAuthorsYear
1
Systematic monitoring of hemostatic management in hemophilia A patients with inhibitor in the perioperative period using rotational thromboelastometry. (25903848)
2015
2
FVIIa as used pharmacologically is not TF dependent in hemophilia B mice. (24425804)
2014
3
Oral gene therapy for hemophilia B using chitosan-formulated FIX mutants. (24679056)
2014
4
Platelet gene therapy corrects the hemophilic phenotype in immunocompromised hemophilia A mice transplanted with genetically manipulated human cord blood stem cells. (24269957)
2014
5
Guidelines for the management of hemophilia. (22776238)
2013
6
Development of inhibitory antibodies to therapeutic factor VIII in severe hemophilia A is associated with microsatellite polymorphisms in the HMOX1 promoter. (23716558)
2013
7
Is a decrease of microparticles related to improvement of hemostasis after FVIII injection in hemophilia A patients treated on demand? (23231463)
2013
8
What is the role of prophylaxis in the improvement of health-related quality of life of patients with hemophilia? (24319162)
2013
9
Risk factors for high-titer inhibitor development in children with hemophilia A: results of a cohort study. (24199202)
2013
10
Both Hemophilia Health Care Providers and Hemophilia A Carriers Report That Carriers Have Excessive Bleeding. (24309601)
2013
11
Immunosuppression for acquired hemophilia A: results from the European Acquired Haemophilia Registry (EACH2). (22517903)
2012
12
Novel molecules for the correction of factor Xa generation and phenotype in hemophilia. (22405049)
2012
13
Re: 24-year-old man with previously diagnosed hemophilia. (22745259)
2012
14
Factor XIII in the treatment of hemophilia A. (22256823)
2012
15
A zymogen-like factor Xa variant corrects the coagulation defect in hemophilia. (22020385)
2011
16
Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. (21166991)
2011
17
Diagnosis, laboratory aspects and management of acquired hemophilia A. (20407848)
2010
18
The expanding menagerie: animal models of hemophilia A. (21251193)
2010
19
Rituximab and immune tolerance in severe hemophilia A: a consecutive national cohort. (19320828)
2009
20
Favourable progression of acquired hemophilia-associated bullous pemphigoid. (19451049)
2009
21
Frequency of factor VIII inhibitor in the patients with hemophilia A and environmental risk factors for inhibitor development]. (19968075)
2009
22
A cellular viewpoint of anti-FVIII immune response in hemophilia A. (19165635)
2009
23
Acquired hemophilia a in a patient with lumbar disc herniation: a case report and review of the literature. (19365240)
2009
24
Endovascular abdominal aortic aneurysm repair in a patient with severe hemophilia B. (19281292)
2009
25
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. (16972227)
2007
26
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
27
Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. (16926287)
2006
28
Rapid decrease in high titer of factor VIII inhibitors upon immunosuppressive treatment in severe postpartum acquired hemophilia A. (15103761)
2004
29
A surgical case of subdural hematoma with hemophilia A]. (15529790)
2004
30
Expression of human coagulation factor VIII in adipocytes transduced with the simian immunodeficiency virus agmTYO1-based vector for hemophilia A gene therapy. (14737084)
2004
31
A new potent hFIX plasmid for hemophilia B gene therapy. (15290864)
2004
32
Functional analysis of the EGF-like domain mutations Pro55Ser and Pro55Leu, which cause mild hemophilia B. (12871416)
2003
33
Establishment of a hemophilia B transgenic mouse model on the basis of coagulation factor IX gene knock-out mouse]. (12143307)
2002
34
Evaluation of DHPLC in the analysis of hemophilia A. (11179760)
2001
35
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
36
Mechanism and kinetics of factor VIII inactivation: study with an IgG4 monoclonal antibody derived from a hemophilia A patient with inhibitor. (9657749)
1998
37
Successful treatment of acquired hemophilia with oral immunosuppressive therapy. (9245226)
1997
38
Cerebral infarct associated with factor V Leiden mutation in a boy with hemophilia A. (9371534)
1997
39
Bedside measurement of factor VIII:C activity in individuals with hemophilia A. (8619397)
1996
40
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
41
Moderation of hemophilia A phenotype by the factor V R506Q mutation. (8695835)
1996
42
Continuous infusion of factor concentrates: review of use in hemophilia A and demonstration of safety and efficacy in hemophilia B. (7571993)
1995
43
Concomitant treatment with factor IX concentrates and antifibrinolytics in hemophilia B. (7571994)
1995
44
Airway obstruction in hemophilia (factor VIII deficiency): a 28-year institutional review. (8022238)
1994
45
Gene therapy of hemophilia B. (8236102)
1993
46
Orthotopic liver transplantation in a patient with combined hemophilia A and B. (2105634)
1990
47
Group B streptococcal polyarthritis complicating hemophilia B. (2120893)
1990
48
Canine hemophilia B resulting from a point mutation with unusual consequences. (2481310)
1989
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

About this section

Expression for genes affiliated with Hemophilia

About this section
Search GEO for disease gene expression data for Hemophilia.

Pathways for genes affiliated with Hemophilia

About this section

Pathways related to Hemophilia according to GeneCards Suite gene sharing:

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 Pathway36
Complement and Coagulation Cascades36
6.1F5, F8, F3, CPB2, F11, F9

Compounds for genes affiliated with Hemophilia

About this section

Compounds related to Hemophilia according to GeneCards Suite gene sharing:

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1tributylphosphate439.4F8, VWF, F9
2cacl2439.0F5, F10, F9, F3, F8
3inogatran438.9F2, F5, F3
4organon438.9F2, F9, F3, F10
5acenocoumarol43 49 1210.8F9, F2, F3, F5
6ecarin438.8F10, F5, F3, F2
7spectrozyme438.8F5, F3, F2, F10
8danaparoid438.8F10, F2, F5, F3
9ximelagatran43 129.8F2, F10, F5, F3
10rfviii438.8F8, F5, VWF, F9, F10
11heparinoids438.8F5, F3, F2, F10
12bivalirudin43 129.7F3, F10, F2, F5
13dextran sulfate438.7F5, F3, F10, F11, F9
14argatroban43 129.7F5, F2, F10, F3
15protamine sulfate438.7F10, F5, F3, F2
16hydroxyethyl starch438.6F2, VWF, F3, F8
17phosphatidylethanolamine43 129.5F5, F2, F8, F9
18ppack438.5F10, F2, VWF, F3
19fondaparinux438.5F5, F10, F9, F2, F3
20tirofiban43 129.5F10, F3, VWF, F2
21coumarins438.5F10, F2, F5, F3, F9
22cardiolipin43 129.5F10, F2, F5, F3, F8
23gamma-carboxyglutamic acid438.5F5, F10, F9, F2, F3
24coumarin43 2 49 2411.4F5, F3, F10, F9, F2
25tranexamic acid43 129.4VWF, F3, F9, F2, F8
26abciximab43 129.4VWF, F2, F10, F3
27cyclophosphamide43 49 1210.4F8, F3, F9, VWF, F5
28endotoxin438.4F5, F8, F3, F11, F9
29kaolin438.2F2, F9, F10, F3, F8, F5
30clopidogrel43 49 24 1210.9F3, F10, VWF, F2
31simvastatin43 49 59 28 24 1212.9F2, VWF, F10, F3, F5
32acetaminophen43 2 49 24 1211.9F10, F5, F2, F9, F8, VWF
33aspirin43 49 28 2410.8F2, F5, F10, F8, F3, VWF
34kininogen437.7F9, F3, F2, F11, VWF, F5
35warfarin43 49 24 1210.6F3, F10, F9, VWF, F2, F8
36citrate437.5F3, F10, F8, F9, VWF, F2
37phosphatidylserine43 28 129.5F2, VWF, F9, F10, F3, F5
38ristocetin437.5F3, F8, F5, VWF, F2, F9
39homocysteine43 248.5F2, VWF, F5, F8, F9, F11
40desmopressin43 59 28 1210.5F8, F5, F3, F11, F9, VWF
41aspartate437.4F2, F9, VWF, F10, F3, F8
42aprotinin43 128.4F2, F5, F3, F11, F10, F9
43dermatan sulfate437.4F2, VWF, F5, F3, F10, F9
44creatinine437.3VWF, F9, F5, F2, F8, F3
45alanine437.3F9, VWF, F2, F10, F8, F5
46hirudin437.0F11, F10, F9, VWF, F2, F3
47phospholipid437.0VWF, F9, F10, F11, F2, F3
48serine436.8F10, F5, F8, F3, F11, F9
49heparin43 28 24 129.5F5, F8, F3, CPB2, F11, F10
50fibrinogen436.5F11, F10, F9, VWF, F2, CPB2

GO Terms for genes affiliated with Hemophilia

About this section

Cellular components related to Hemophilia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:00312339.7F3, F10
2platelet alpha granule lumenGO:00310939.1VWF, F8, F5
3endoplasmic reticulum lumenGO:00057888.9F10, F9, F2
4Golgi lumenGO:00057968.8F10, F9, F2
5extracellular spaceGO:00056157.6F2, F11, CPB2, F3, F8, F5
6extracellular regionGO:00055767.1F5, F2, VWF, F9, F10, F11
7plasma membraneGO:00058866.9F2, F9, F10, F11, F3, F8

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00075989.6F9, F10, F3
2negative regulation of fibrinolysisGO:00519189.2CPB2, F2
3acute-phase responseGO:00069539.2F2, F8
4platelet degranulationGO:00025769.2VWF, F8, F5
5fibrinolysisGO:00427309.2F2, CPB2
6peptidyl-glutamic acid carboxylationGO:00171879.1F10, F9, F2
7cell adhesionGO:00071559.1F5, F8, VWF
8post-translational protein modificationGO:00436878.9F10, F9, F2
9response to woundingGO:00096118.7VWF, F2
10proteolysisGO:00065088.6F2, F9, F10, CPB2
11platelet activationGO:00301688.4F5, F8, VWF, F2
12blood coagulation, intrinsic pathwayGO:00075977.7F2, VWF, F9, F10, F11, F8
13blood coagulationGO:00075966.3F5, F2, VWF, F9, F10, F11

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.5F3, VWF
2copper ion bindingGO:00055079.4F5, F8
3serine-type endopeptidase activityGO:00042527.6F5, F8, F11, F10, F9, F2
4protein bindingGO:00055156.8F2, VWF, F10, F11, F3, F8

Products for genes affiliated with Hemophilia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hemophilia

About this section
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