MCID: TYP015
MIFTS: 40

Type 2b Von Willebrand Disease malady

Genetic diseases (common) category
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Summaries for Type 2b Von Willebrand Disease

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MalaCards based summary: Type 2b Von Willebrand Disease, also known as von willebrand disease, type 2b, is related to pseudo-von willebrand disease and thrombocytopenia. 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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Type 2b Von Willebrand Disease, Aliases & Descriptions:

Name: Type 2b Von Willebrand Disease 20 22
 
Von Willebrand Disease, Type 2b 62


Classifications:

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


Related Diseases for Type 2b Von Willebrand Disease

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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
1pseudo-von willebrand disease30.9VWF, GP1BA
2thrombocytopenia30.2GP1BA, SELP, ADAMTS13, F8, VWF
3von willebrand disease, types 2a, 2b, 2m, and 2n10.5
4factor xii deficiency10.4VWF
5glanzmann's thrombasthenia10.4VWF
6purpura10.4ADAMTS13
7coronary thrombosis10.4VWF
8duodenitis10.4
9thrombotic thrombocytopenic purpura, acquired10.4ADAMTS13
10factor xi deficiency10.3F8
11factor viii deficiency10.3F8
12intermittent claudication10.2VWF, SELP
13peripheral vascular disease10.2SELP, VWF
14hemorrhagic thrombocythemia10.1VWF, SELP
15stroke, ischemic10.1SELP, VWF
16hemolytic-uremic syndrome10.1VWF, ADAMTS13
17sickle cell disease10.1SELP, VWF
18hellp syndrome10.1ADAMTS13, VWF
19bone marrow cancer10.1VWF, SELP
20familial hyperlipidemia10.1SELP, GP1BA
21vasculitis10.1SELP, VWF
22hemolytic anemia10.1ADAMTS13, VWF
23hemarthrosis10.1VWF, F8
24intracranial thrombosis10.1F8, 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 disease9.9VWF, F8
32acute myocardial infarction9.9VWF, SELP, ADAMTS13
33sepsis9.9ADAMTS13, GP1BA, SELP
34hypothyroidism9.9F8, VWF
35blood platelet disease9.9GP1BA, VWF, F8
36autoimmune thrombocytopenic purpura9.9F8, SELP, GP1BA
37essential hypertension9.9VWF, SELP
38hypercholesterolemia9.9F8, SELP
39bernard-soulier syndrome9.9VWF, GP1BA, F8
40thrombophilia9.8VWF, F8, SELP
41thromboembolism9.8F8, SELP, VWF
42venous thrombosis9.8VWF, SELP, F8
43hyperhomocysteinemia9.8SELP, F8, VWF
44primary hyperoxaluria9.8F8, SELP
45prion disease9.8VWF, F8, SELP
46congenital heart disease9.8VWF, SELP, F8
47type 2 diabetes mellitus9.8F8, SELP, VWF
48systemic lupus erythematosus9.7F8, ADAMTS13, VWF
49coronary artery anomaly9.7VWF, GP1BA, SELP, ADAMTS13
50diabetes mellitus9.6VWF, 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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Drug clinical trials:

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Search NIH Clinical Center for Type 2b Von Willebrand Disease

Genetic Tests for Type 2b Von Willebrand Disease

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Genetic tests related to Type 2b Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2b Von Willebrand Disease20
2 Von Willebrand Disease, Type 2b22

Anatomical Context for Type 2b Von Willebrand Disease

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

32
Bone marrow, Bone, Testes

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.0F8, ADAMTS13, SELP, VWF
2MP:00053977.4F8, ADAMTS13, SELP, GP1BA, VWF
3MP:00053767.2VWF, GP1BA, SELP, ADAMTS13, F8

Publications for Type 2b Von Willebrand Disease

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Articles related to Type 2b Von Willebrand Disease:

(show all 37)
idTitleAuthorsYear
1
An update on type 2B von Willebrand disease. (24521271)
2014
2
A novel use of thromboelastography in type 2B von Willebrand disease. (23621544)
2013
3
Thrombocytopathy and type 2B von Willebrand disease. (24270415)
2013
4
Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease. (23970904)
2013
5
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease. (24222967)
2013
6
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
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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Expression patterns in normal tissues for genes affiliated with Type 2b Von Willebrand Disease

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Pathways for genes affiliated with Type 2b Von Willebrand Disease

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Compounds for genes affiliated with Type 2b Von Willebrand Disease

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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
1tetramethylpyrazine449.8SELP, VWF
2sodium chlorate449.8SELP, VWF
3echistatin449.8SELP, VWF
411-dehydrothromboxane b2449.7SELP, VWF
5ppack449.7SELP, VWF
6quinapril44 50 1111.7VWF, SELP
7tirofiban44 1110.7VWF, SELP
8polysulfone449.7SELP, VWF
9clopidogrel44 50 24 1112.6VWF, SELP
10dipyridamole44 61 28 1112.6SELP, VWF
11recombinate449.6VWF, F8
12txb2449.5SELP, VWF
13tributylphosphate449.5VWF, F8
14kogenate449.5F8, VWF
15rfviii449.5VWF, F8
16thromboxane44 2410.4VWF, SELP
17tranexamic acid44 1110.4VWF, F8
18abciximab44 1110.4GP1BA, VWF, SELP
19kininogen449.4SELP, GP1BA, VWF
20aprotinin44 1110.4SELP, GP1BA, VWF
21dermatan sulfate449.3SELP, VWF
22formaldehyde44 2410.3GP1BA, SELP, VWF
23ticlopidine44 1110.2ADAMTS13, VWF, SELP
24latex449.1VWF, F8, GP1BA
25hydroxyethyl starch449.1VWF, F8, SELP
26warfarin44 50 24 1112.0F8, VWF, SELP
27thromboxane a244 2410.0VWF, SELP, F8
28homocysteine44 2410.0VWF, SELP, F8
29citrate449.0F8, VWF, SELP
30methionine448.9F8, GP1BA, VWF
31rituximab44 50 1110.9F8, ADAMTS13, VWF
32cyclophosphamide44 50 1110.9F8, ADAMTS13, VWF
33norepinephrine44 24 1110.8F8, SELP, VWF
34ivig448.8F8, VWF
35aspartate448.6VWF, SELP, F8
36hirudin448.6GP1BA, SELP, VWF, F8
37prostacyclin448.6GP1BA, F8, SELP, VWF
38phosphatidylserine44 28 1110.6VWF, SELP, F8, GP1BA
39aspirin44 50 28 2411.6F8, VWF, GP1BA, SELP
40epinephrine44 24 1110.6VWF, SELP, F8, GP1BA
41lactate448.5SELP, GP1BA, F8, VWF
42adp44 28 2410.5VWF, GP1BA, SELP, F8
43cyclosporin a44 28 6110.4ADAMTS13, SELP, VWF, F8
44creatinine448.4ADAMTS13, VWF, F8, SELP
45serine448.2GP1BA, VWF, F8, ADAMTS13
46tyrosine448.2F8, SELP, GP1BA, VWF
47ristocetin448.0VWF, F8, ADAMTS13, SELP, GP1BA
48desmopressin44 61 28 1111.0ADAMTS13, SELP, GP1BA, VWF, F8
49fibrinogen448.0VWF, SELP, ADAMTS13, F8, GP1BA
50heparin44 28 24 1111.0F8, ADAMTS13, SELP, GP1BA, VWF

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

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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:0075978.7VWF, GP1BA, F8
2platelet degranulationGO:0025768.6F8, SELP, VWF
3cell adhesionGO:0071558.1VWF, GP1BA, SELP, F8
4blood coagulationGO:0075967.9F8, SELP, GP1BA, VWF
5platelet activationGO:0301687.6F8, ADAMTS13, SELP, GP1BA, VWF

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

Sources for Type 2b Von Willebrand Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet