MCID: TYP015
MIFTS: 30

Type 2b Von Willebrand Disease malady

Category: Genetic diseases (common)

Aliases & Classifications for Type 2b Von Willebrand Disease

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Aliases & Descriptions for Type 2b Von Willebrand Disease:

Name: Type 2b Von Willebrand Disease 24
Von Willebrand Disease Type Iib 24
 
Von Willebrand Disease, Type 2b 68

Classifications:



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 iib, is related to von willebrand disease, types 2a, 2b, 2m, and 2n and thrombocytopenia. An important gene associated with Type 2b Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways are GP1b-IX-V activation signalling and Platelet activation. Affiliated tissues include testes, bone and bone marrow, and related mouse phenotypes are hematopoietic system and homeostasis/metabolism.

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, types 2a, 2b, 2m, and 2n11.5
2thrombocytopenia10.3
3trismus-pseudocamptodactyly syndrome10.1GP1BA, VWF
4prostatic hypertrophy10.1SELP, VWF
5monocular exotropia10.1GP1BA, VWF
6lupus erythematosus10.1SELP, VWF
7xerophthalmia10.1SELP, VWF
8osteogenesis imperfecta, type vii10.1SELP, VWF
9ischemic optic neuropathy10.1SELP, VWF
10immunodeficiency 2010.1GP1BA, SELP
11immunodeficiency 2110.1GP1BA, VWF
12gluten allergy10.1ADAMTS13, VWF
13congenital chloride diarrhea10.0SELP, VWF
14vcl-related familial hypertrophic cardiomyopathy10.0F8, VWF
15vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.0F8, VWF
16chronic progressive external ophthalmoplegia10.0ADAMTS13, VWF
17high anorectal malformation10.0F8, VWF
18headache10.0F8, VWF
19alpha-2-macroglobulin deficiency10.0F8, VWF
20hypertrichosis10.0F8, VWF
21pineal region meningioma10.0F8, VWF
22fletcher factor deficiency10.0F8, VWF
23myotonic dystrophy10.0F8, VWF
24renal adenoma10.0F8, VWF
25sertoli-leydig cell tumor10.0ADAMTS13, SELP
26basilar artery insufficiency10.0SELP, VWF
27otopalatodigital syndrome, type i10.0F8, VWF
28pregnancy loss, recurrent 110.0F8, VWF
29aids dementia complex10.0F8, VWF
30immunodeficiency, common variable, 69.9F8, VWF
31acute proliferative glomerulonephritis9.9ADAMTS13, VWF
32cervix small cell carcinoma9.9SELP, VWF
33bone development disease9.9GP1BA, SELP, VWF
34duodenitis9.9
35giant papillary conjunctivitis9.9F8, VWF
36septic myocarditis9.9ADAMTS13, SELP, VWF
37haemonchiasis9.9ADAMTS13, GP1BA, VWF
38tracheal disease9.9ADAMTS13, GP1BA, VWF
39adult t-cell leukemia9.9SELP, VWF
40acromegaloid hypertrichosis syndrome9.8F8, GP1BA, VWF
41essential thrombocythemia9.8F8, GP1BA, VWF
42membranoproliferative glomerulonephritis9.8ADAMTS13, F8, VWF
43immunodeficiency due to defect in mapbp-interacting protein9.8ADAMTS13, SELP, VWF
44severe nonproliferative diabetic retinopathy9.7ADAMTS13, GP1BA, SELP, VWF
45pyridoxamine 5'-phosphate oxidase deficiency9.6F8, GP1BA, SELP, VWF
46thyroid cancer, anaplastic9.6ADAMTS13, F8, SELP, VWF
47perichondritis of auricle9.6ADAMTS13, F8, GP1BA, VWF
48vcl-related dilated cardiomyopathy9.4ADAMTS13, F8, GP1BA, SELP, VWF
49atrophic nonflaccid tympanic membrane9.4ADAMTS13, F8, GP1BA, SELP, VWF
50ocular hyperemia9.4ADAMTS13, F8, GP1BA, 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 & Phenotypes for Type 2b Von Willebrand Disease

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MGI Mouse Phenotypes related to Type 2b Von Willebrand Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.3ADAMTS13, F8, GP1BA, SELP, VWF
2MP:00053767.5ADAMTS13, F8, GP1BA, SELP, VWF

Drugs & Therapeutics for Type 2b Von Willebrand Disease

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Drugs for Type 2b Von Willebrand Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic AgentsPhase 21697
2VasopressinsPhase 2294
3HemostaticsPhase 21443
4Deamino Arginine VasopressinPhase 277
5Arginine VasopressinPhase 2299
6CoagulantsPhase 21500
7arginineNutraceuticalPhase 2425

Interventional clinical trials:

idNameStatusNCT IDPhase
1ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function DisordersCompletedNCT00632242Phase 2
2A Study of the Pharmacokinetics, Pharmacodynamics, and Safety of ARC1779 Injection in Patients With Von Willebrand Disease Type 2BWithdrawnNCT00694785Phase 2

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 Disease24

Anatomical Context for Type 2b Von Willebrand Disease

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

36
Testes, Bone, Bone marrow

Publications for Type 2b Von Willebrand Disease

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Articles related to Type 2b Von Willebrand Disease:

(show all 46)
idTitleAuthorsYear
1
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia. (28060120)
2017
2
Management of type 2b von Willebrand disease in the neonatal period. (27468167)
2016
3
Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia. (27215777)
2016
4
Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality. (27148840)
2016
5
Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation. (27978591)
2016
6
A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis. (26278967)
2015
7
Management of pregnancy in type 2B von Willebrand disease: case report and literature review. (25431025)
2015
8
First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease. (25851809)
2015
9
An update on type 2B von Willebrand disease. (24521271)
2014
10
Thrombocytopathy and type 2B von Willebrand disease. (24270415)
2013
11
Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease. (23970904)
2013
12
A novel use of thromboelastography in type 2B von Willebrand disease. (23621544)
2013
13
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease. (24222967)
2013
14
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
15
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. (21301777)
2011
16
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
17
Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions. (20371742)
2010
18
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
19
A randomised pilot trial of the anti-von Willebrand factor aptamer ARC1779 in patients with type 2b von Willebrand disease. (20589313)
2010
20
Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients. (19943880)
2010
21
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. (19060241)
2009
22
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
23
The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. (17922807)
2008
24
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype? (19085651)
2008
25
Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF. (18725999)
2008
26
Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. (18776767)
2008
27
Decreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia. (18493997)
2008
28
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
29
Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. (17608761)
2007
30
Type 2B von Willebrand disease in seven individuals from three different families: phenotypic and genotypic characterization. (17598021)
2007
31
Molecular misdiagnosis in type 2B von Willebrand disease. (16783788)
2006
32
Type 2B and pseudo type 2B Von Willebrand disease; a report of three cases]. (16176858)
2006
33
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
34
Onset of severe refractory thrombocytopenia following surgery in a patient with type 2B von Willebrand disease--a case report. (16753854)
2006
35
The value of genetic testing for type 2B Von Willebrand disease. (16430455)
2006
36
Severe thrombocytopenia, type 2B von Willebrand disease and pregnancy. (15564956)
2004
37
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
38
A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. (15041272)
2003
39
Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. (10997984)
2000
40
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
41
A case of type 2B von Willebrand disease reverse to normal when treated with high doses of protease inhibitor. (10595658)
1999
42
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. (9858249)
1998
43
Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations. (9459349)
1998
44
A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype. (9308766)
1997
45
Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets. (8630394)
1996
46
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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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
1platelet alpha granule lumenGO:00310939.2F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesionGO:00071559.6GP1BA, SELP, VWF
2blood coagulation, intrinsic pathwayGO:00075979.4F8, GP1BA, VWF
3blood coagulationGO:00075968.7ADAMTS13, F8, GP1BA, VWF
4platelet degranulationGO:00025768.7F8, SELP, VWF
5hemostasisGO:00075998.7ADAMTS13, F8, GP1BA, VWF
6platelet activationGO:00301688.6ADAMTS13, F8, GP1BA, VWF

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:000194810.0SELP, VWF
2integrin bindingGO:00051789.4ADAMTS13, VWF

Sources for Type 2b Von Willebrand Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet