MCID: TYP015
MIFTS: 29

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 23
Von Willebrand Disease Type Iib 23
 
Von Willebrand Disease, Type 2b 66

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 von willebrand disease. 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 53)
idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, types 2a, 2b, 2m, and 2n11.6
2von willebrand disease10.9
3thrombocytopenia10.4
4trismus-pseudocamptodactyly syndrome10.3GP1BA, VWF
5dislocation of ear ossicle10.3SELP, VWF
6colon carcinoma in situ10.2SELP, VWF
7psychosexual disorder10.2SELP, VWF
8gray platelet syndrome10.2SELP, VWF
9ischemic heart disease10.2SELP, VWF
10thrombocytopenic purpura, autoimmune10.2GP1BA, SELP
11autonomic peripheral neuropathy10.1ADAMTS13, VWF
12thrombocytopenia with elevated serum iga and renal disease10.1GP1BA, SELP
13jumping frenchmen of maine10.1SELP, VWF
14bernard-soulier syndrome, type c10.1GP1BA, VWF
15angina pectoris10.1SELP, VWF
16microcytic anemia10.1ADAMTS13, VWF
17adult respiratory distress syndrome10.0SELP, VWF
18duodenitis10.0
19prostate neuroendocrine neoplasm10.0ADAMTS13, SELP
20tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.0F8, VWF
21tyrosine hydroxylase-deficient dopa-responsive dystonia10.0F8, VWF
22gemistocytic astrocytoma10.0SELP, VWF
23secondary central precocious puberty10.0F8, VWF
24familial spastic paralysis10.0F8, VWF
25duane retraction syndrome10.0ADAMTS13, VWF
26malignant type ab thymoma10.0F8, VWF
27von willibrand disease, type 310.0F8, VWF
28tympanosclerosis10.0F8, VWF
29leydig cell tumor10.0F8, VWF
30infantile-onset ascending hereditary spastic paralysis9.9F8, VWF
31otopalatodigital syndrome, type i9.9F8, VWF
32van maldergem syndrome 29.9F8, VWF
33thrombophilia due to activated protein c resistance9.9F8, VWF
34peripheral artery disease9.9SELP, VWF
35factor v deficiency9.9F8, VWF
36phagocyte bactericidal dysfunction9.8GP1BA, SELP
37pregnancy loss, recurrent 29.8F8, VWF
38tracheal cancer9.8ADAMTS13, GP1BA
39adrenal rest tumor9.8SELP, VWF
40littre gland carcinoma9.8GP1BA, SELP, VWF
41fiedler's myocarditis9.7ADAMTS13, SELP, VWF
42benign epilepsy with centrotemporal spikes9.7ADAMTS13, GP1BA, VWF
43stroke, ischemic9.6SELP, VWF
44allain-babin-demarquez syndrome9.5F8, GP1BA, VWF
45perichondritis of auricle9.5F8, GP1BA, VWF
46malaria9.4ADAMTS13, SELP, VWF
47atrophic gastritis9.2ADAMTS13, GP1BA, SELP, VWF
48platelet storage pool deficiency9.2ADAMTS13, GP1BA, SELP, VWF
49pyridoxamine 5'-phosphate oxidase deficiency9.0F8, GP1BA, SELP, VWF
50wfs1-related disorders8.9ADAMTS13, F8, GP1BA, 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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Drugs for Type 2b Von Willebrand Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1arginineNutraceuticalPhase 2393

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 Disease23

Anatomical Context for Type 2b Von Willebrand Disease

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

34
Testes, Bone, Bone marrow

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.5ADAMTS13, F8, GP1BA, SELP, VWF
2MP:00053767.5ADAMTS13, F8, GP1BA, SELP, VWF

Publications for Type 2b Von Willebrand Disease

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Articles related to Type 2b Von Willebrand Disease:

(show all 44)
idTitleAuthorsYear
1
Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia. (27215777)
2016
2
Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality. (27148840)
2016
3
Management of type 2b von Willebrand disease in the neonatal period. (27468167)
2016
4
Management of pregnancy in type 2B von Willebrand disease: case report and literature review. (25431025)
2015
5
First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease. (25851809)
2015
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
An update on type 2B von Willebrand disease. (24521271)
2014
8
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease. (24222967)
2013
9
A novel use of thromboelastography in type 2B von Willebrand disease. (23621544)
2013
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
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
13
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. (21301777)
2011
14
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
15
Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions. (20371742)
2010
16
A randomised pilot trial of the anti-von Willebrand factor aptamer ARC1779 in patients with type 2b von Willebrand disease. (20589313)
2010
17
Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients. (19943880)
2010
18
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
19
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. (19060241)
2009
20
Decreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia. (18493997)
2008
21
Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF. (18725999)
2008
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
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype? (19085651)
2008
24
Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. (18776767)
2008
25
The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. (17922807)
2008
26
Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. (17608761)
2007
27
Type 2B von Willebrand disease in seven individuals from three different families: phenotypic and genotypic characterization. (17598021)
2007
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
Onset of severe refractory thrombocytopenia following surgery in a patient with type 2B von Willebrand disease--a case report. (16753854)
2006
30
Molecular misdiagnosis in type 2B von Willebrand disease. (16783788)
2006
31
The value of genetic testing for type 2B Von Willebrand disease. (16430455)
2006
32
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
33
Type 2B and pseudo type 2B Von Willebrand disease; a report of three cases]. (16176858)
2006
34
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
35
Severe thrombocytopenia, type 2B von Willebrand disease and pregnancy. (15564956)
2004
36
A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. (15041272)
2003
37
Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. (10997984)
2000
38
A case of type 2B von Willebrand disease reverse to normal when treated with high doses of protease inhibitor. (10595658)
1999
39
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
40
Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations. (9459349)
1998
41
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. (9858249)
1998
42
A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype. (9308766)
1997
43
Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets. (8630394)
1996
44
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
1hemostasisGO:000759910.1GP1BA, VWF
2blood coagulation, intrinsic pathwayGO:00075979.2F8, GP1BA, VWF
3platelet degranulationGO:00025769.1F8, SELP, VWF
4cell adhesionGO:00071558.7GP1BA, SELP, VWF
5blood coagulationGO:00075968.7F8, GP1BA, VWF
6platelet activationGO:00301688.3ADAMTS13, F8, GP1BA, VWF

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.5SELP, VWF
2integrin bindingGO:00051789.1ADAMTS13, VWF

Sources for Type 2b Von Willebrand Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet