MCID: HMP007
MIFTS: 64

Hemophilia malady

Blood, Genetic categories

Summaries for Hemophilia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 3CDC, 64Wikipedia, 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 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 skin, liver and spinal cord, 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 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:64 Haemophilia (/hiːməˈfɪliə/; also spelled hemophilia in North America, from the Greek haima... more...

Aliases & Classifications for Hemophilia

Sources:
64Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 49Orphanet, 34MedlinePlus, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

hemophilia 64 43 22 21 49 34
hemophilia, hereditary 21
hemophilia, familial 21
hemophilia a 61


External Ids:

ICD10 via Orphanet26 D67, D66
SNOMED-CT via Orphanet58 90935002
UMLS via Orphanet62 C0684275

Related Diseases for Hemophilia

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 200)
idRelated DiseaseScoreTop Affiliating Genes
1hemophilia b31.5F11, F9, F8, FBN1, F10, EMB
2factor viii deficiency30.8F10, F5, F8, F8A1, F9, F11
3factor v deficiency30.7F2, F3, F5, F8
4factor vii deficiency30.7F2, F3, F7, F10, F5, F8
5hemarthrosis30.6F9, VWF, F3, F10, F8
6arthropathy30.4F8, F9
7arthritis30.3F10, FBN1
8hepatitis a30.3F8, F2
9systemic lupus erythematosus30.2F3, VWF, F2, F10, FBN1, F8
10thrombophilia30.1F2, VWF, F3, F7, F11, F10
11venous thrombosis30.1F10, F5, F8, F9, F11, F3
12cardiac tamponade30.1F8
13protein c deficiency30.0F9, F2, F5
14cystic fibrosis30.0F8, F9
15aortic aneurysm30.0FBN1
16atherosclerosis30.0SELPLG, F7, FBN1, F3, VWF, PTS
17coronary artery disease,30.0FBN1, F3, F7, SELPLG, F10, F9
18thrombocytopenia30.0F8, F5, F9, F10, F2, VWF
19central retinal vein occlusion29.7F5
20portal vein thrombosis29.7F2, F5, F8
21hemolytic-uremic syndrome29.7VWF
22viral hepatitis29.7F8, F10, F2
23glanzmann's thrombasthenia29.7F8, F9, VWF, F3, F10
24acquired immunodeficiency syndrome29.7F8
25von willebrand's disease29.7F2, VWF, F3, F7, F8, F9
26acute myocardial infarction29.7VWF, F3, CKM, F10, F7
27combined factor v and viii deficiency29.7LMAN1
28stroke, ischemic29.7F5, F2
29factor xi deficiency29.7F2, F3, F7, F11, F5, F8
30afibrinogenemia29.7F2, VWF, F3, F11, F10, F8
31hepatitis b29.7F8, F2, F9
32vascular disease29.7F3, F5, F7, VWF
33vasculitis29.7VWF, F2
34acquired hemophilia11.0
35hemophilia a, acquired11.0
36severe hemophilia a10.6
37hemophilia a, congenital10.5
38severe hemophilia b10.5
39mild hemophilia a10.5
40hepatitis c10.4
41mild hemophilia b10.3
42hepatitis e10.3
43hepatitis c virus10.3
44hepatitis d10.2
45n syndrome10.1
46bullous pemphigoid10.1
47moderately severe hemophilia a10.1
48moderately severe hemophilia b10.1
49arteriovenous malformation10.0
50abdominal aortic aneurysm10.0

Graphical network of the top 20 diseases related to Hemophilia:



Diseases related to hemophilia

Clinical Features for Hemophilia

Drugs & Therapeutics for Hemophilia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Genetic Tests for Hemophilia

Sources:
22GTR
See all sources

Genetic tests related to Hemophilia:

id Genetic test Affiliating Genes
1 Hemophilia22

Anatomical Context for Hemophilia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hemophilia:

33
Skin, Liver, Spinal cord, Brain, Kidney, Lung, Bone marrow, Whole blood, Heart, Skeletal muscle, Colon, Adipocyte, Thyroid, Breast, Myeloid, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung, Fetal thyroid

Animal Models for Hemophilia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hemophilia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.2FBN1, F11, F8, VWF, F2, SELPLG
2MP:000538510.1F2, PTS, F9, CKM, FBN1, F10
3MP:000537610.0CPB2, F3, F7, VWF, F2, LMAN1
4MP:00107689.9F9, F8, FBN1, F5, F10, CPB2
5MP:00053879.8CPB2, SELPLG, F2, VWF, F11, F3

Publications for Hemophilia

Sources:
51PubMed
See all sources

Articles related to Hemophilia:

(show top 50)    (show all 1518)
idTitleAuthorsYear
1
Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile. (24317041)
2014
2
Treatment of hemophilia B: focus on recombinant factor IX. (23430394)
2013
3
F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort. (22958194)
2013
4
Management of pregnancy in a patient with severe hemophilia type a. (23943706)
2013
5
Randomized, controlled, parallel-group trial of routine prophylaxis vs. on-demand treatment with sucrose-formulated recombinant factorA VIII in adults with severe hemophiliaA A (SPINART). (23528101)
2013
6
World Federation of Hemophilia: 50 years of advancing treatment for all. (23777531)
2013
7
Perioperative management of a hemophilia B infant with intracranial hemorrhage. (23560023)
2012
8
New challenges in hemophilia: long-term outcomes and complications. (23233605)
2012
9
Coronary artery calcification in hemophilia A: no evidence for a protective effect of factor VIII deficiency on atherosclerosis. (22173226)
2012
10
Cumulative inhibitor incidence in previously untreated patients with severe hemophilia A treated with plasma-derived versus recombinant factor VIII concentrates: a critical systematic review. (21277222)
2012
11
Intraosseous pseudotumor of the distal radius in a patient with hemophilia: case report. (22209209)
2012
12
Prevention of the musculoskeletal complications of hemophilia. (22778972)
2012
13
Activation state of platelets in experimental severe hemophilia A. (22419575)
2012
14
Native-like aggregates of factor VIII are immunogenic in von Willebrand factor deficient and hemophilia a mice. (22388918)
2012
15
Identification of a third rearrangement at Xq28 that causes severe hemophilia A as a result of homologous recombination between inverted repeats. (22672522)
2012
16
Solulin increases clot stability in whole blood from humans and dogs with hemophilia. (22234684)
2012
17
The aging patient with hemophilia. (22430948)
2012
18
Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer. (22271447)
2012
19
Poly-N-acetylglucosamine fibers amplify the effectiveness of recombinant factor VIIA on clot formation in hemophilia B canine blood. (21814114)
2011
20
Self-complementary adeno-associated viral vectors for gene therapy of hemophilia B: progress and challenges. (21939421)
2011
21
Clinical advances in hemophilia management. (21755590)
2011
22
Increased osteoclastic activity as shown by increased sRANK-L/OPG ratio in boys with hemophilia. (20084381)
2010
23
Rituximab and immune tolerance in severe hemophilia A: a consecutive national cohort. (19320828)
2009
24
Factor VIII hydrolysis mediated by anti-factor VIII autoantibodies in acquired hemophilia. (18490775)
2008
25
Gene transfer to hemophilia A mice via oral delivery of FVIII-chitosan nanoparticles. (18634839)
2008
26
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. (16972227)
2007
27
Comparison of the immunogenicity of different therapeutic preparations of human factor VIII in the murine model of hemophilia A. (18024377)
2007
28
Rituximab in the treatment of adult acquired hemophilia A: a systematic review. (17236786)
2007
29
Spontaneous spinal epidural hematoma in a child with hemophilia B. (18062462)
2007
30
Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. (16926287)
2006
31
Influence of the type of factor VIII concentrate on the incidence of factor VIII inhibitors in previously untreated patients with severe hemophilia A. (16166584)
2006
32
Ischemic colitis following the treatment of acute hemorrhage in a patient with acquired hemophilia A]. (16715966)
2006
33
The spectrum of mutations and molecular pathogenesis of hemophilia A in 181 Portuguese patients. (16769589)
2006
34
Breakpoint of a balanced translocation (X:14) (q27.1;q32.3) in a girl with severe hemophilia B maps proximal to the factor IX gene. (15009460)
2004
35
Characterization of human hybridoma clones isolated from hemophilia patients with specificity for different domains of coagulating factor VIII. (14646035)
2003
36
Sustained human factor VIII expression in hemophilia A mice following systemic delivery of a gutless adenoviral vector. (11786047)
2002
37
Acquired hemophilia secondary to factor VIII inhibitors after pregnancy. (9791567)
1998
38
Genetic therapy for hemophiliacs--therapeutic potential and technological limits]. (9264782)
1997
39
The need for highly purified products to treat hemophilia B. (7571991)
1995
40
Orthotopic liver transplantation in hemophilia B: a case report. (8579741)
1995
41
Transcriptional control of the factor IX gene: analysis of five cis-acting elements and the deleterious effects of naturally occurring hemophilia B Leyden mutations. (7949171)
1994
42
Factor VIII gene mutations and RFLP analysis in hemophilia A. (8100465)
1993
43
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation. (8500791)
1993
44
Clinical experience of a new monoclonal antibody purified factor IX: half-life, recovery, and safety in patients with hemophilia B. (2094957)
1990
45
Alloantibodies in hemophilia B binding to multiple factor IX epitopes. (2438804)
1987
46
Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty. (7062952)
1982
47
Hemarthrosis of the temporomandibular joint in a patient with hemophilia B: report of case. (286767)
1979
48
The abnormal factor IX of hemophilia B+ variants. (734633)
1978
49
An immunological investigation of hemophilia B with a tentative classification of the disease into five variants. (857424)
1977
50
The hemostatic effect of normal platelets in hemophilia and factor V deficiency. The importance of clotting factors adsorbed on platelets for normal hemostasis. (13871204)
1961

Genetic Variations for Hemophilia

Expression for genes affiliated with Hemophilia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 50PharmGKB, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 53R&D Systems
See all sources

Pathways related to Hemophilia according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Hemophilia

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Hemophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 143)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.9F9, VWF
2coumarins4510.8F9, F3, F10
3cardiolipin45 1111.8F10
4Coagulation Factor IX1110.7F2, F10, F7, F8, F11
5fondaparinux4510.7F2, F3, F9, F10, F5
6ecarin4510.7F5, F3, F2, F10
7kaolin4510.7F2, F3, F10, F5, F8, F9
8spectrozyme4510.7F10, F5, F2, F3
9tranexamic acid45 1111.7F2, F9, F8, F3, VWF
10rfviii4510.7VWF, F10, F5, F8, F9, PTS
11cacl24510.7F8, F9, FBN1, F5, F10, F3
12danaparoid4510.7F5, F10, F3, F2
13gamma-carboxyglutamic acid4510.7F9, F5, F2, F3, F7, F10
14organon4510.7F2, F3, F9, F10
15ristocetin4510.7F2, VWF, F3, F11, F5, F8
16aprotinin45 1111.7F9, VWF, F3, F11, F10, F5
17ximelagatran45 1111.7F2, F5, F10, F3
18desmopressin45 60 29 1113.7F9, VWF, F8, F2, F3, F5
19heparinoids4510.7F5, F10, F3, F2
20dermatan sulfate4510.7F2, VWF, F3, F11, F10, F5
21hirudin4510.7F5, F9, F10, F11, F3, VWF
22kininogen4510.7F11, F9, F5, VWF, F3, F7
23acenocoumarol45 50 1112.7F2, F3, F5, F9
24homocysteine45 2411.7VWF, F2, F9, FBN1, F8, F11
25citrate4510.7F9, F3, VWF, F2, F8, F10
26coumarin45 2 50 2413.7F2, F9, F3, F5, F10
27Antihemophilic Factor1110.6VWF, LMAN1, F10, F2
28acetaminophen45 2 50 11 2414.6VWF, F2, F10, F5, F8, F9
29bivalirudin45 1111.6F5, F10, F2, F3
30hydroxyethyl starch4510.6F2, F8, F3, VWF
31phosphatidylserine45 29 1112.6SELPLG, F2, VWF, F3, F9, F8
32argatroban45 1111.6F10, F3, F5, F2
33phospholipid4510.6F3, F5, F2, F8, F9, F10
34ppack4510.6VWF, F2, F3, F10
35fibrinogen4510.6VWF, F10, CPB2, SELPLG, F2, F3
36protamine sulfate4510.6F2, F3, F10, F5
37serine4510.6CKM, PTS, FBN1, F8, F10, F11
38aspartate4510.6VWF, F9, F8, F5, F10, F7
39creatinine4510.6VWF, F3, F2, F5, F7, CPB2
40dextran sulfate4510.5F10, F11, F3, F9, F5
41heparin45 29 11 2413.5F9, F8, F5, F10, F11, VWF
42tirofiban45 1111.5F10, F2, F3, VWF
43tributylphosphate4510.5F9, F8, VWF
44Gamma-Carboxy-Glutamic Acid1110.4F2, F10, F9
45cysteine4510.4F10, SELPLG, PTS, CKM, F9, F8
46arginine4510.3CPB2, CKM, FBN1, F9, F8, F5
47alanine4510.3F8, FBN1, SELPLG, F5, F10, F3
48inogatran4510.3F2, F3, F5
49cholesterol45 29 11 2413.2CPB2, F9, F8, SELPLG, PTS, VWF
50aspirin45 50 29 2413.0F8, F5, VWF, F2, F3, F10

GO Terms for genes affiliated with Hemophilia

Sources:
16Gene Ontology
See all sources

Cellular components related to Hemophilia according to GeneCards/GeneDecks:

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

Biological processes related to Hemophilia according to GeneCards/GeneDecks:

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemophilia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet