MCID: TYP015
MIFTS: 40

Type 2b Von Willebrand Disease malady

Genetic diseases (common) category

Summaries for Type 2b Von Willebrand Disease

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MalaCards: Type 2b Von Willebrand Disease, also known as von willebrand disease, type 2b, is related to thrombocytopenia and duodenitis. An important gene associated with Type 2b Von Willebrand Disease is GP1BA (glycoprotein Ib (platelet), alpha polypeptide), and among its related pathways are Integrin alphaIIb beta3 signaling and Platelet Adhesion to exposed collagen. The compounds tetramethylpyrazine and sodium chlorate have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and testes, and related mouse phenotypes are immune system and hematopoietic system.

Aliases & Classifications for Type 2b Von Willebrand Disease

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21GeneTests, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

type 2b von willebrand disease 21 23
von willebrand disease, type 2b 63


Related Diseases for Type 2b Von Willebrand Disease

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18GeneCards, 19GeneDecks
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Diseases related to Type 2b Von Willebrand Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia30.8GP1BA, SELP, ADAMTS13, F8, VWF
2duodenitis10.4
3von willebrand disease, types 2a, 2b, 2m, and 2n10.4
4factor xii deficiency10.1VWF
5glanzmann's thrombasthenia10.1VWF
6purpura10.1ADAMTS13
7coronary thrombosis10.1VWF
8thrombotic thrombocytopenic purpura, acquired10.1ADAMTS13
9factor xi deficiency10.1F8
10factor viii deficiency10.1F8
11pseudo-von willebrand disease10.1VWF, GP1BA
12intermittent claudication10.0VWF, SELP
13peripheral vascular disease10.0SELP, VWF
14hemorrhagic thrombocythemia10.0VWF, SELP
15stroke, ischemic10.0SELP, VWF
16hemolytic-uremic syndrome10.0VWF, ADAMTS13
17sickle cell disease10.0SELP, VWF
18hellp syndrome10.0ADAMTS13, VWF
19myeloproliferative disorder10.0VWF, SELP
20familial hyperlipidemia10.0SELP, GP1BA
21vasculitis10.0SELP, VWF
22hemolytic anemia10.0ADAMTS13, VWF
23hemarthrosis10.0VWF, F8
24intracranial thrombosis10.0F8, VWF
25hemorrhagic disease10.0VWF, F8
26afibrinogenemia10.0VWF, F8
27thrombocytosis10.0GP1BA, SELP, VWF
28liver cirrhosis10.0GP1BA, ADAMTS13
29vascular disease10.0GP1BA, VWF, SELP
30disseminated intravascular coagulation10.0ADAMTS13, F8
31hypersensitivity reaction type ii disease10.0VWF, F8
32acute myocardial infarction10.0VWF, SELP, ADAMTS13
33sepsis10.0ADAMTS13, GP1BA, SELP
34hypothyroidism10.0F8, VWF
35blood platelet disease10.0GP1BA, VWF, F8
36autoimmune thrombocytopenic purpura10.0F8, SELP, GP1BA
37essential hypertension10.0VWF, SELP
38hypercholesterolemia10.0F8, SELP
39bernard-soulier syndrome10.0VWF, GP1BA, F8
40thrombophilia10.0VWF, F8, SELP
41thromboembolism10.0F8, SELP, VWF
42venous thrombosis10.0VWF, SELP, F8
43hyperhomocysteinemia10.0SELP, F8, VWF
44primary hyperoxaluria10.0F8, SELP
45prion disease10.0VWF, F8, SELP
46congenital heart disease10.0VWF, SELP, F8
47type 2 diabetes mellitus9.9F8, SELP, VWF
48systemic lupus erythematosus9.9F8, ADAMTS13, VWF
49coronary artery disease9.9VWF, GP1BA, SELP, ADAMTS13
50diabetes mellitus9.9VWF, SELP, GP1BA, F8

Graphical network of the top 20 diseases related to Type 2b Von Willebrand Disease:



Diseases related to type 2b von willebrand disease

Symptoms for Type 2b Von Willebrand Disease

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Drugs & Therapeutics for Type 2b Von Willebrand Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Search CenterWatch for Type 2b Von Willebrand Disease

Genetic Tests for Type 2b Von Willebrand Disease

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21GeneTests, 23GTR
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Genetic tests related to Type 2b Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2b Von Willebrand Disease21
2 Von Willebrand Disease, Type 2b23

Anatomical Context for Type 2b Von Willebrand Disease

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34MalaCards
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MalaCards organs/tissues related to Type 2b Von Willebrand Disease:

34
Bone marrow, Bone, Testes

Animal Models for Type 2b Von Willebrand Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Type 2b Von Willebrand Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0ADAMTS13, F8, VWF, SELP
2MP:00053977.4VWF, GP1BA, SELP, ADAMTS13, F8
3MP:00053767.2F8, VWF, GP1BA, SELP, ADAMTS13

Publications for Type 2b Von Willebrand Disease

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53PubMed
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Articles related to Type 2b Von Willebrand Disease:

(show all 37)
idTitleAuthorsYear
1
A novel use of thromboelastography in type 2B von Willebrand disease. (23621544)
2013
2
Thrombocytopathy and type 2B von Willebrand disease. (24270415)
2013
3
Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease. (23970904)
2013
4
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease. (24222967)
2013
5
The anti-von Willebrand factor aptamer ARC1779 increases von Willebrand factor levels and platelet counts in patients with type 2B von Willebrand disease. (22740102)
2012
6
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. (21301777)
2011
7
Prospective study of low-dose ristocetin-induced platelet aggregation to identify type 2B von Willebrand disease (VWD) and platelet-type VWD in children. (20941465)
2010
8
Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients. (19943880)
2010
9
Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions. (20371742)
2010
10
A randomised pilot trial of the anti-von Willebrand factor aptamer ARC1779 in patients with type 2b von Willebrand disease. (20589313)
2010
11
A family having type 2B von Willebrand disease with an R1306W mutation: Severe thrombocytopenia leads to the normalization of high molecular weight multimers. (19740526)
2010
12
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. (19060241)
2009
13
Decreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia. (18493997)
2008
14
Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF. (18725999)
2008
15
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype? (19085651)
2008
16
Phenotypic identification of platelet-type von Willebrand disease and its discrimination from type 2B von Willebrand disease: a question of 2B or not 2B? A story of nonidentical twins? Or two sides of a multidenominational or multifaceted primary-hemostasis coin? (18393148)
2008
17
Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. (18776767)
2008
18
The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. (17922807)
2008
19
Platelet-type von Willebrand disease and type 2B von Willebrand disease: a story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes. (18175283)
2007
20
Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. (17608761)
2007
21
Type 2B von Willebrand disease in seven individuals from three different families: phenotypic and genotypic characterization. (17598021)
2007
22
Onset of severe refractory thrombocytopenia following surgery in a patient with type 2B von Willebrand disease--a case report. (16753854)
2006
23
Measurement of von Willebrand factor binding to a recombinant fragment of glycoprotein Ibalpha in an enzyme-linked immunosorbent assay-based method: performances in patients with type 2B von Willebrand disease. (16704443)
2006
24
Type 2B and pseudo type 2B Von Willebrand disease; a report of three cases]. (16176858)
2006
25
Molecular misdiagnosis in type 2B von Willebrand disease. (16783788)
2006
26
The value of genetic testing for type 2B Von Willebrand disease. (16430455)
2006
27
Severe thrombocytopenia, type 2B von Willebrand disease and pregnancy. (15564956)
2004
28
Type 2B von Willebrand disease and related disorders of patients with increased ristocetin-induced platelet aggregation: what they tell us about the role of von Willebrand factor in hemostasis. (15550048)
2004
29
A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. (15041272)
2003
30
Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. (10997984)
2000
31
Post-DDAVP thrombocytopenia in type 2B von Willebrand disease is not associated with platelet consumption: failure to demonstrate glycocalicin increase or platelet activation. (10063996)
1999
32
A case of type 2B von Willebrand disease reverse to normal when treated with high doses of protease inhibitor. (10595658)
1999
33
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. (9858249)
1998
34
Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations. (9459349)
1998
35
A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype. (9308766)
1997
36
Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets. (8630394)
1996
37
A monoclonal antibody (B724) to von Willebrand factor recognizing an epitope within the A1 disulphide loop (Cys509-Cys695) discriminates between type 2A and type 2B von Willebrand disease. (7540413)
1995

Variations for Type 2b Von Willebrand Disease

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Expression for genes affiliated with Type 2b Von Willebrand Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type 2b Von Willebrand Disease

Search GEO for disease gene expression data for Type 2b Von Willebrand Disease.

Pathways for genes affiliated with Type 2b Von Willebrand Disease

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 54QIAGEN, 55R&D Systems
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Compounds for genes affiliated with Type 2b Von Willebrand Disease

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46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1tetramethylpyrazine469.8SELP, VWF
2sodium chlorate469.8SELP, VWF
3echistatin469.8SELP, VWF
411-dehydrothromboxane b2469.7SELP, VWF
5ppack469.7SELP, VWF
6quinapril46 52 1211.7VWF, SELP
7tirofiban46 1210.7VWF, SELP
8polysulfone469.7SELP, VWF
9clopidogrel46 52 25 1212.6VWF, SELP
10dipyridamole46 62 30 1212.6SELP, VWF
11recombinate469.6VWF, F8
12txb2469.5SELP, VWF
13tributylphosphate469.5VWF, F8
14kogenate469.5F8, VWF
15rfviii469.5VWF, F8
16thromboxane46 2510.4VWF, SELP
17tranexamic acid46 1210.4VWF, F8
18abciximab46 1210.4GP1BA, VWF, SELP
19kininogen469.4SELP, GP1BA, VWF
20aprotinin46 1210.4SELP, GP1BA, VWF
21dermatan sulfate469.3SELP, VWF
22formaldehyde46 2510.3GP1BA, SELP, VWF
23ticlopidine46 1210.2ADAMTS13, VWF, SELP
24latex469.1VWF, F8, GP1BA
25hydroxyethyl starch469.1VWF, F8, SELP
26warfarin46 52 25 1212.0F8, VWF, SELP
27thromboxane a246 2510.0VWF, SELP, F8
28homocysteine46 2510.0VWF, SELP, F8
29citrate469.0F8, VWF, SELP
30methionine468.9F8, GP1BA, VWF
31rituximab46 52 1210.9F8, ADAMTS13, VWF
32cyclophosphamide46 52 1210.9F8, ADAMTS13, VWF
33norepinephrine46 25 1210.8F8, SELP, VWF
34ivig468.8F8, VWF
35aspartate468.6VWF, SELP, F8
36hirudin468.6GP1BA, SELP, VWF, F8
37prostacyclin468.6GP1BA, F8, SELP, VWF
38phosphatidylserine46 30 1210.6VWF, SELP, F8, GP1BA
39aspirin46 52 30 2511.6F8, VWF, GP1BA, SELP
40epinephrine46 25 1210.6VWF, SELP, F8, GP1BA
41lactate468.5SELP, GP1BA, F8, VWF
42adp46 30 2510.5VWF, GP1BA, SELP, F8
43cyclosporin a46 30 6210.4ADAMTS13, SELP, VWF, F8
44creatinine468.4ADAMTS13, VWF, F8, SELP
45serine468.2GP1BA, VWF, F8, ADAMTS13
46tyrosine468.2F8, SELP, GP1BA, VWF
47ristocetin468.0VWF, F8, ADAMTS13, SELP, GP1BA
48desmopressin46 62 30 1211.0ADAMTS13, SELP, GP1BA, VWF, F8
49fibrinogen468.0VWF, SELP, ADAMTS13, F8, GP1BA
50heparin46 30 25 1211.0F8, ADAMTS13, SELP, GP1BA, VWF

GO Terms for genes affiliated with Type 2b Von Willebrand Disease

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17Gene Ontology
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Cellular components related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.4SELP, VWF
2platelet alpha granule lumenGO:0310939.0F8, VWF
3extracellular spaceGO:0056158.2F8, ADAMTS13, SELP

Biological processes related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:0075978.7GP1BA, VWF, F8
2platelet degranulationGO:0025768.6VWF, SELP, F8
3cell adhesionGO:0071558.1GP1BA, SELP, F8, VWF
4blood coagulationGO:0075967.9VWF, GP1BA, SELP, F8
5platelet activationGO:0301687.6VWF, GP1BA, SELP, F8, ADAMTS13

Molecular functions related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:0019489.3SELP, VWF
2integrin bindingGO:0051789.0ADAMTS13, VWF
3protein bindingGO:0055157.5F8, ADAMTS13, SELP, GP1BA, VWF

Products for genes affiliated with Type 2b Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 2b Von Willebrand Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet