MCID: TYP015
MIFTS: 39

Type 2b Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Type 2b Von Willebrand Disease

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Sources:
20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Type 2b Von Willebrand Disease, Aliases & Descriptions:

Name: Type 2b Von Willebrand Disease 20
Von Willebrand Disease Type 2b 47 22
 
Von Willebrand Disease, Type 2b 60


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
von willebrand disease type 2b:
Inheritance: Autosomal dominant


External Ids:

Orphanet47 166087
ICD10 via Orphanet26 D68.0
UMLS via Orphanet61 C1282971

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 von willebrand disease, platelet-type and thrombocytopenia. An important gene associated with Type 2b Von Willebrand Disease is VWF (von Willebrand factor), 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.

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 Suite gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, platelet-type31.1VWF, GP1BA
2thrombocytopenia30.2GP1BA, SELP, ADAMTS13, F8, VWF
3factor xii deficiency10.4VWF
4glanzmann thrombasthenia10.4VWF
5purpura10.4ADAMTS13
6coronary thrombosis10.4VWF
7duodenitis10.4
8thrombotic thrombocytopenic purpura10.4ADAMTS13
9factor xi deficiency, autosomal recessive10.3F8
10factor viii deficiency10.3F8
11intermittent claudication10.2VWF, SELP
12peripheral vascular disease10.2SELP, VWF
13essential thrombocythemia10.1VWF, SELP
14stroke, ischemic10.1SELP, VWF
15hemolytic-uremic syndrome10.1VWF, ADAMTS13
16atrial fibrillation10.1SELP, VWF
17hellp syndrome10.1ADAMTS13, VWF
18sickle cell disease10.1SELP, VWF
19bone marrow cancer10.1VWF, SELP
20raynaud disease10.1ADAMTS13, VWF
21familial hyperlipidemia10.1SELP, GP1BA
22vasculitis10.1SELP, VWF
23hemolytic anemia10.1ADAMTS13, VWF
24hemarthrosis10.1VWF, F8
25intracranial thrombosis10.1F8, VWF
26primary hyperoxaluria10.0VWF, ADAMTS13
27hemorrhagic disease10.0VWF, F8
28afibrinogenemia10.0VWF, F8
29thrombophilia due to activated protein c resistance10.0VWF, F8
30thrombocytosis10.0GP1BA, SELP, VWF
31liver cirrhosis10.0GP1BA, ADAMTS13
32vascular disease10.0GP1BA, VWF, SELP
33disseminated intravascular coagulation9.9ADAMTS13, F8
34hypersensitivity reaction type ii disease9.9VWF, F8
35acute myocardial infarction9.9VWF, SELP, ADAMTS13
36hypothyroidism9.9F8, VWF
37blood platelet disease9.9GP1BA, VWF, F8
38thrombocytopenic purpura, autoimmune9.9F8, SELP, GP1BA
39bernard-soulier syndrome, type c9.9VWF, GP1BA, F8
40hypertension, essential9.9VWF, SELP
41hypercholesterolemia, familial9.9F8, SELP
42factor v leiden thrombophilia9.9GP1BA, VWF, F8
43hemophilia a9.8F8, SELP, VWF
44thrombophilia9.8VWF, F8, SELP
45thrombophilia due to thrombin defect9.8VWF, SELP, F8
46hyperhomocysteinemia9.8SELP, F8, VWF
47brain disease9.8VWF, F8, SELP
48congenital heart disease9.8VWF, SELP, F8
49kidney disease9.8F8, SELP
50diabetes mellitus, noninsulin-dependent9.8F8, SELP, VWF

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:

Search ClinicalTrials for Type 2b Von Willebrand Disease

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:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.1ADAMTS13, 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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Articles related to Type 2b Von Willebrand Disease:

(show all 40)
idTitleAuthorsYear
1
Management of pregnancy in type 2B von Willebrand disease: case report and literature review. (25431025)
2015
2
First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease. (25851809)
2015
3
An update on type 2B von Willebrand disease. (24521271)
2014
4
A novel use of thromboelastography in type 2B von Willebrand disease. (23621544)
2013
5
Thrombocytopathy and type 2B von Willebrand disease. (24270415)
2013
6
Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease. (23970904)
2013
7
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease. (24222967)
2013
8
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
9
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. (21301777)
2011
10
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
11
Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients. (19943880)
2010
12
Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions. (20371742)
2010
13
A randomised pilot trial of the anti-von Willebrand factor aptamer ARC1779 in patients with type 2b von Willebrand disease. (20589313)
2010
14
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
15
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. (19060241)
2009
16
Decreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia. (18493997)
2008
17
Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF. (18725999)
2008
18
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype? (19085651)
2008
19
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
20
Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. (18776767)
2008
21
The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. (17922807)
2008
22
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
23
Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. (17608761)
2007
24
Type 2B von Willebrand disease in seven individuals from three different families: phenotypic and genotypic characterization. (17598021)
2007
25
Onset of severe refractory thrombocytopenia following surgery in a patient with type 2B von Willebrand disease--a case report. (16753854)
2006
26
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
27
Type 2B and pseudo type 2B Von Willebrand disease; a report of three cases]. (16176858)
2006
28
Molecular misdiagnosis in type 2B von Willebrand disease. (16783788)
2006
29
The value of genetic testing for type 2B Von Willebrand disease. (16430455)
2006
30
Severe thrombocytopenia, type 2B von Willebrand disease and pregnancy. (15564956)
2004
31
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
32
A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. (15041272)
2003
33
Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. (10997984)
2000
34
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
35
A case of type 2B von Willebrand disease reverse to normal when treated with high doses of protease inhibitor. (10595658)
1999
36
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. (9858249)
1998
37
Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations. (9459349)
1998
38
A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype. (9308766)
1997
39
Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets. (8630394)
1996
40
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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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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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 Suite gene sharing:

(show top 50)    (show all 76)
idCompoundScoreTop Affiliating Genes
1tetramethylpyrazine439.9SELP, VWF
2sodium chlorate439.8SELP, VWF
3echistatin439.8SELP, VWF
411-dehydrothromboxane b2439.8SELP, VWF
5ppack439.8SELP, VWF
6quinapril43 49 1211.8VWF, SELP
7tirofiban43 1210.8VWF, SELP
8polysulfone439.7SELP, VWF
9clopidogrel43 49 24 1212.7VWF, SELP
10dipyridamole43 59 28 1212.6SELP, VWF
11recombinate439.6VWF, F8
12txb2439.6SELP, VWF
13tributylphosphate439.6VWF, F8
14kogenate439.6F8, VWF
15rfviii439.6VWF, F8
16thromboxane43 2410.5VWF, SELP
17tranexamic acid43 1210.5VWF, F8
18abciximab43 1210.4GP1BA, VWF, SELP
19dermatan sulfate439.4SELP, VWF
20kininogen439.4SELP, GP1BA, VWF
21aprotinin43 1210.4SELP, GP1BA, VWF
22formaldehyde43 2410.3GP1BA, SELP, VWF
23ticlopidine43 1210.3ADAMTS13, VWF, SELP
24hydroxyethyl starch439.1VWF, F8, SELP
25warfarin43 49 24 1212.1F8, VWF, SELP
26thromboxane a243 2410.1VWF, SELP, F8
27latex439.1VWF, F8, GP1BA
28homocysteine43 2410.0VWF, SELP, F8
29citrate439.0F8, VWF, SELP
30rituximab43 49 1211.0F8, ADAMTS13, VWF
31methionine438.9F8, GP1BA, VWF
32cyclophosphamide43 49 1210.9F8, ADAMTS13, VWF
33norepinephrine43 24 1210.9F8, SELP, VWF
34ivig438.9F8, VWF
35aspartate438.7VWF, SELP, F8
36hirudin438.6GP1BA, SELP, VWF, F8
37prostacyclin438.6GP1BA, F8, SELP, VWF
38phosphatidylserine43 28 1210.6VWF, SELP, F8, GP1BA
39aspirin43 49 28 2411.6F8, VWF, GP1BA, SELP
40epinephrine43 24 1210.6VWF, SELP, F8, GP1BA
41lactate438.5SELP, GP1BA, F8, VWF
42adp43 28 2410.5VWF, GP1BA, SELP, F8
43cyclosporin a43 28 5910.5ADAMTS13, SELP, VWF, F8
44creatinine438.4ADAMTS13, VWF, F8, SELP
45serine438.2GP1BA, VWF, F8, ADAMTS13
46tyrosine438.2F8, SELP, GP1BA, VWF
47ristocetin438.0VWF, F8, ADAMTS13, SELP, GP1BA
48desmopressin43 59 28 1211.0ADAMTS13, SELP, GP1BA, VWF, F8
49fibrinogen438.0VWF, SELP, ADAMTS13, F8, GP1BA
50heparin43 28 24 1211.0F8, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.5SELP, VWF
2platelet alpha granule lumenGO:00310939.1F8, VWF
3extracellular spaceGO:00056158.2F8, ADAMTS13, SELP

Biological processes related to Type 2b Von Willebrand Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00075978.7VWF, GP1BA, F8
2platelet degranulationGO:00025768.7F8, SELP, VWF
3cell adhesionGO:00071558.1VWF, GP1BA, SELP, F8
4blood coagulationGO:00075967.9F8, SELP, GP1BA, VWF
5platelet activationGO:00301687.6F8, ADAMTS13, SELP, GP1BA, VWF

Molecular functions related to Type 2b Von Willebrand Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.4SELP, VWF
2integrin bindingGO:00051789.1ADAMTS13, VWF
3protein bindingGO:00055157.5F8, ADAMTS13, SELP, GP1BA, VWF

Products for genes affiliated with Type 2b Von Willebrand Disease

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Sources for Type 2b Von Willebrand Disease

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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