MCID: HMP007
MIFTS: 68

Hemophilia malady

Blood diseases, Genetic diseases categories

Summaries for Hemophilia

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 3CDC, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 factor viii deficiency. An important gene associated with Hemophilia is F8 (coagulation factor VIII, procoagulant component), and among its related pathways are Platelet degranulation and PTM: gamma carboxylation, hypusine formation and arylsulfatase activation. The drugs recombinant fviia and factor ix,recombinant and the compounds warfarin and coumarins 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:33 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 their 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.

Wikipedia:63 Haemophilia (/hiːməˈfɪliə/; also spelled hemophilia in North America, from the Greek haima... more...

Aliases & Classifications for Hemophilia

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60UMLS, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 48Orphanet, 33MedlinePlus, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hemophilia:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hemophilia 63 42 22 21 48 33
hemophilia, hereditary 21
hemophilia, familial 21
hemophilia a 60


External Ids:

ICD10 via Orphanet26 D67, D66
SNOMED-CT via Orphanet57 90935002, 28293008, 234440005
UMLS via Orphanet61 C0684275

Related Diseases for Hemophilia

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hemophilia B family:

hemophilia Hemophilia a, Acquired
Acquired Hemophilia 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 208)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia b31.7F9, F8, FBN1, F10, F11, EMB
2factor viii deficiency30.8F9, F8, F5, F7, F3, LMAN1
3hepatitis30.7F2, F10, F8, F9
4von willebrand's disease30.7F9, F8, F7, F3, VWF, F2
5hemarthrosis30.5VWF, F3, F10, F8, F9
6factor vii deficiency30.5F9, F8, F5, F10, F7, F3
7hepatitis a30.4F2, F8
8arthropathy30.4F8, F9
9hemorrhagic disease30.3F9
10arthritis30.3F10, FBN1
11hepatitis b30.3F2, F8, F9
12lupus erythematosus30.1F2, F3, F5
13factor xi deficiency30.1F9, F8, F5, F11, F7, F3
14systemic lupus erythematosus30.1F8, FBN1, F10, F3, VWF, F2
15leukemia30.1CKM, F9, F8, F10, F11, SELPLG
16nephrotic syndrome30.0F9
17thrombophilia30.0F2, VWF, F3, F7, F9, F8
18myocardial infarction30.0CKM, F9, F8, F5, F10, F11
19cardiac tamponade30.0F8
20factor v deficiency29.9F8, F5, F3, F2
21cystic fibrosis29.9F8, F9
22aortic aneurysm29.9FBN1
23diabetes mellitus29.9F8, F10, F7, VWF, PTS
24hepatocellular carcinoma29.9F2, F7, F10, FBN1, F8, F9
25disseminated intravascular coagulation29.9F9, F8, F5, F10, F7, F3
26atherosclerosis29.9FBN1, F7, F3, VWF, PTS, SELPLG
27coronary artery disease29.9F9, FBN1, F10, F7, F3, VWF
28thrombocytopenia29.9F9, F8, F5, F10, F7, F3
29retinal vein occlusion29.7F5
30central retinal vein occlusion29.7F5
31obesity29.7PTS, F7
32factor xii deficiency29.7F3, F5
33portal vein thrombosis29.7F8, F5, F2
34hypertension29.7F2, F5
35hemolytic-uremic syndrome29.7VWF
36viral hepatitis29.7F2, F10, F8
37pulmonary embolism29.7F2, F3, F10, F5, F9
38acquired immunodeficiency syndrome29.7F8
39factor x deficiency29.7F9, F5, F10, F7, F3, F2
40acute myocardial infarction29.7CKM, F10, F7, F3, VWF
41combined factor v and viii deficiency29.7LMAN1
42stroke, ischemic29.7F5, F2
43hemangioma29.7F8
44endocarditis29.7F10
45vascular disease29.7F5, F7, F3, VWF
46vasculitis29.7F2, VWF
47hepatitis c10.4
48acquired hemophilia10.3
49hemophilia a, congenital10.3
50bullous pemphigoid10.0

Graphical network of the top 20 diseases related to Hemophilia:



Diseases related to hemophilia

Clinical Features for Hemophilia

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Drugs & Therapeutics for Hemophilia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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:
32MalaCards
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MalaCards organs/tissues related to Hemophilia:

32
Brain, Testes, Heart, Lung, Liver, T cells, Skeletal muscle, Endothelial, B cells, Whole blood, Skin, Bone, Bone marrow, Colon, Breast, Thyroid, Myeloid, Adipocyte, Kidney

Animal Models for Hemophilia or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Hemophilia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.2F9, F8, FBN1, F11, F3, VWF
2MP:000538510.1CKM, F9, FBN1, F10, F11, F7
3MP:000537610.0CPB2, CKM, F9, F8, FBN1, F5
4MP:00107689.9F11, F10, F5, FBN1, F8, F9
5MP:00053879.8TIMD4, F9, F8, FBN1, F11, F3

Publications for Hemophilia

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Sources:
50PubMed
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Articles related to Hemophilia:

(show top 50)    (show all 1460)
idTitleAuthorsYear
1
Acquired hemophilia presenting as profound hematuria: evaluation, diagnosis, and management of elusive cause of bleeding in the emergency department setting. (23643238)
2013
2
Impact of being underweight or overweight on factor VIII dosing in hemophilia A patients. (23645693)
2013
3
Gene therapy for hemophilia: addressing the coming challenges of affordability and accessibility. (23281440)
2013
4
Emerging issues on comprehensive hemophilia care: preventing, identifying, and monitoring age-related comorbidities. (24014070)
2013
5
The clot thickens for long-lasting drugs that stop hemophilia short. (23389596)
2013
6
Intraosseous pseudotumor of the distal radius in a patient with hemophilia: case report. (22209209)
2012
7
Management of bleeding in acquired hemophilia A: results from the European Acquired Haemophilia (EACH2) Registry. (22618709)
2012
8
Cancers in patients with hemophilia: a retrospective study from the Italian Association of Hemophilia Centers. (22099424)
2012
9
The efficacy and the risk of immunogenicity of FIX Padua (R338L) in hemophilia B dogs treated by AAV muscle gene therapy. (22919027)
2012
10
Past, present and future of hemophilia: a narrative review. (22551339)
2012
11
Neonatal helper-dependent adenoviral vector gene therapy mediates correction of hemophilia A and tolerance to human factor VIII. (21245323)
2011
12
Fibrin glue, hemophilia, and circumcision in low-income countries. (21292105)
2011
13
Successful endoscopic mucosal resection of a hyperplastic polyp in a hemophilia A patient. (21951095)
2011
14
Another step towards understanding hemophilia A molecular pathogenesis. (21188793)
2010
15
Double mutation, a 2-bp deletion and Val211Ile, in the blood coagulation factor IX gene of a patient with severe hemophilia B]. (19522246)
2009
16
An age-related homeostasis mechanism is essential for spontaneous amelioration of hemophilia B Leyden. (19416882)
2009
17
Integrated analysis of safety and efficacy of a plasma- and albumin-free recombinant factor VIII (rAHF-PFM) from six clinical studies in patients with hemophilia A. (19216617)
2009
18
Detection of factor IX gene mutation in patients with hemophilia B by DNA sequencing]. (19379592)
2009
19
Factor VIII (FVIII) gene mutations in 120 patients with hemophilia A: detection of 26 novel mutations and correlation with FVIII inhibitor development. (17445092)
2007
20
Treatment characteristics and the risk of inhibitor development: a multicenter cohort study among previously untreated patients with severe hemophilia A. (17456190)
2007
21
Incidence of inhibitors in a cohort of 838 males with hemophilia A previously treated with factor VIII concentrates. (17002659)
2006
22
Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A. (16380445)
2006
23
Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency. (15266608)
2004
24
A case of acquired hemophilia caused by factor VIII inhibitor with rheumatoid arthritis, successfully treated with immunosuppressive treatment and recombinant activated factor VII. (24387653)
2004
25
More on: unusual expression of the F9 gene in peripheral lymphocytes hinders investigation of F9 mRNA in hemophilia B patients. (15140150)
2004
26
Hemarthrosis in acquired hemophilia. Two case-reports. (14667566)
2003
27
Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex. (12091341)
2002
28
11 hemophilia A patients without mutations in the factor VIII encoding gene. (12195713)
2002
29
Mechanism of the immune response to human factor VIII in murine hemophilia A. (11204564)
2001
30
Postpartum acquired hemophilia (factor VIII inhibitors): a case report and review of the literature. (11128909)
2000
31
Sustained correction of bleeding disorder in hemophilia B mice by gene therapy. (10097136)
1999
32
Short-term correction of factor VIII deficiency in a murine model of hemophilia A after delivery of adenovirus murine factor VIII in utero. (10557319)
1999
33
Case 1--1999. Elective and emergency cardiac surgery on a patient with hemophilia B. (10069292)
1999
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
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
36
Hemophilia and von Willebrand's disease: 2. Management. Association of Hemophilia Clinic Directors of Canada. (7600466)
1995
37
Does SjAPgren's syndrome predispose surgical patients to acquired hemophilia? (7534284)
1995
38
Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis. (8320491)
1993
39
Factor IX deficiency (hemophilia B) in a family of British shorthair cats. (8307821)
1993
40
Extracorporeal shock wave lithotripsy in a patient with hemophilia B]. (8515646)
1993
41
Expression of human factor IX in rat capillary endothelial cells: toward somatic gene therapy for hemophilia B. (1896457)
1991
42
Factor VIII gene and hemophilia A. (2491949)
1989
43
A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. (3122181)
1987
44
Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor. (3461460)
1986
45
Treatment of a spontaneous intracerebral hematoma with exchange transfusions in an infant with hemophilia B. (6747763)
1984
46
Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients. (7059689)
1982
47
Characterization of an antibody to factor VIII in a patient with acquired hemophilia with circulating immune complexes. (6806894)
1982
48
Hemophilia B (factor IX deficiency) in an Old English Sheepdog. (7353989)
1980
49
Tricuspid atresia with christmas disease (hemophilia B). Report of a case. (1117747)
1975
50
Vascular lesions in hemophilia B. (4723113)
1973

Genetic Variations for Hemophilia

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Expression for genes affiliated with Hemophilia

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Sources:
1BioGPS, 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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53Reactome, 49PharmGKB, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 52R&D Systems
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Pathways related to Hemophilia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4VWF, F5, F8
210.4F9, F10, F7, F2
3
Hide members
10.4CPB2, F7, F10, F9
4
Hide members
10.3F3, VWF, F2, SELPLG
5
Hide members
10.3F2, F3, F7, F10, F9
6
Hide members
10.3F5, F10, F7, F3, F2
7
Hide members
10.3F9, F8, F5, F10, F11, F7
8
Hide members
10.2F9, F8, FBN1, F5, F10, F11
9
Hide members
10.2CPB2, F9, F2, VWF, F3, F7
10
Hide members
10.1F3, F7, F11, F10, F5, F8

Compounds for genes affiliated with Hemophilia

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 2BitterDB
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Compounds related to Hemophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 143)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.9F9, VWF
2coumarins4410.8F9, F3, F10
3cardiolipin44 1111.8F10
4Coagulation Factor IX1110.7F2, F10, F7, F8, F11
5fondaparinux4410.7F2, F3, F9, F10, F5
6ecarin4410.7F5, F3, F2, F10
7kaolin4410.7F2, F3, F10, F5, F8, F9
8spectrozyme4410.7F10, F5, F2, F3
9tranexamic acid44 1111.7F2, F9, F8, F3, VWF
10rfviii4410.7VWF, F10, F5, F8, F9, PTS
11cacl24410.7F8, F9, FBN1, F5, F10, F3
12danaparoid4410.7F5, F10, F3, F2
13gamma-carboxyglutamic acid4410.7F9, F5, F2, F3, F7, F10
14organon4410.7F2, F3, F9, F10
15ristocetin4410.7F2, VWF, F3, F11, F5, F8
16aprotinin44 1111.7F9, VWF, F3, F11, F10, F5
17ximelagatran44 1111.7F2, F5, F10, F3
18desmopressin44 59 28 1113.7F9, VWF, F8, F2, F3, F5
19heparinoids4410.7F5, F10, F3, F2
20dermatan sulfate4410.7F2, VWF, F3, F11, F10, F5
21hirudin4410.7F5, F9, F10, F11, F3, VWF
22kininogen4410.7F11, F9, F5, VWF, F3, F7
23acenocoumarol44 49 1112.7F2, F3, F5, F9
24homocysteine44 2411.7VWF, F2, F9, FBN1, F8, F11
25citrate4410.7F9, F3, VWF, F2, F8, F10
26coumarin44 2 49 2413.7F2, F9, F3, F5, F10
27Antihemophilic Factor1110.6VWF, LMAN1, F10, F2
28acetaminophen44 2 49 11 2414.6VWF, F2, F10, F5, F8, F9
29bivalirudin44 1111.6F5, F10, F2, F3
30hydroxyethyl starch4410.6F2, F8, F3, VWF
31phosphatidylserine44 28 1112.6SELPLG, F2, VWF, F3, F9, F8
32argatroban44 1111.6F10, F3, F5, F2
33phospholipid4410.6F3, F5, F2, F8, F9, F10
34ppack4410.6VWF, F2, F3, F10
35fibrinogen4410.6VWF, F10, CPB2, SELPLG, F2, F3
36protamine sulfate4410.6F2, F3, F10, F5
37serine4410.6CKM, PTS, FBN1, F8, F10, F11
38aspartate4410.6VWF, F9, F8, F5, F10, F7
39creatinine4410.6VWF, F3, F2, F5, F7, CPB2
40dextran sulfate4410.5F10, F11, F3, F9, F5
41heparin44 28 11 2413.5F9, F8, F5, F10, F11, VWF
42tirofiban44 1111.5F10, F2, F3, VWF
43tributylphosphate4410.5F9, F8, VWF
44Gamma-Carboxy-Glutamic Acid1110.4F2, F10, F9
45cysteine4410.4F10, SELPLG, PTS, CKM, F9, F8
46arginine4410.3CPB2, CKM, FBN1, F9, F8, F5
47alanine4410.3F8, FBN1, SELPLG, F5, F10, F3
48inogatran4410.3F2, F3, F5
49cholesterol44 28 11 2413.2CPB2, F9, F8, SELPLG, PTS, VWF
50aspirin44 49 28 2413.0F8, F5, VWF, F2, F3, F10

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
1platelet alpha granule lumenGO:03109310.4VWF, F5, F8
2Golgi lumenGO:00579610.4F2, F7, F10, F9
3extracellular spaceGO:00561510.3CPB2, F8, FBN1, F5, F11, F7
4intrinsic to external side of plasma membraneGO:03123310.3F10, F3
5extracellular regionGO:00557610.3F9, F8, FBN1, F5, F10, F11
6endoplasmic reticulum lumenGO:00578810.1F2, F7, F10, F9

Biological processes related to Hemophilia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.6F3, F7, F10, F9
2positive regulation of platelet-derived growth factor receptor signaling pathwayGO:01064110.6F3, F7
3peptidyl-glutamic acid carboxylationGO:01718710.6F9, F10, F7, F2
4blood coagulation, intrinsic pathwayGO:00759710.6F9, F8, F10, F11, VWF, F2
5post-translational protein modificationGO:04368710.5F9, F10, F7, F2, LMAN1
6proteolysisGO:00650810.5F9, F10, F11, F7, F2, CPB2
7positive regulation of protein kinase B signaling cascadeGO:05189710.5F10, F7, F3
8platelet activationGO:03016810.5F2, VWF, F5, F8
9cell adhesionGO:00715510.5F8, F5, EMB, VWF, SELPLG
10positive regulation of positive chemotaxisGO:05092710.4F7, F3
11positive regulation of blood coagulationGO:03019410.4F2, F7
12cellular protein metabolic processGO:04426710.4LMAN1, F2, F7, F10, F9
13blood coagulationGO:00759610.4CPB2, F9, F8, F5, F10, F11
14negative regulation of fibrinolysisGO:05191810.3CPB2, F2
15platelet degranulationGO:00257610.1VWF, F5, F8

Molecular functions related to Hemophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00425210.3F2, F7, F11, F10, F9

Products for genes affiliated with Hemophilia

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  • Antibodies
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  • Antibodies

Sources for Hemophilia

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet