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 67

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 Integrin alphaIIb beta3 signaling and GP1b-IX-V activation signalling. 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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, types 2a, 2b, 2m, and 2n11.5
2thrombocytopenia10.3
3trismus-pseudocamptodactyly syndrome10.2GP1BA, VWF
4dislocation of ear ossicle10.2SELP, VWF
5colon carcinoma in situ10.2SELP, VWF
6psychosexual disorder10.2SELP, VWF
7gray platelet syndrome10.1SELP, VWF
8ischemic heart disease10.1SELP, VWF
9thrombocytopenic purpura, autoimmune10.1GP1BA, SELP
10autonomic peripheral neuropathy10.1ADAMTS13, VWF
11thrombocytopenia with elevated serum iga and renal disease10.1GP1BA, SELP
12jumping frenchmen of maine10.1SELP, VWF
13bernard-soulier syndrome, type c10.1GP1BA, VWF
14angina pectoris10.1SELP, VWF
15microcytic anemia10.0ADAMTS13, VWF
16adult respiratory distress syndrome10.0SELP, VWF
17tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.0F8, VWF
18prostate neuroendocrine neoplasm10.0ADAMTS13, SELP
19tyrosine hydroxylase-deficient dopa-responsive dystonia10.0F8, VWF
20gemistocytic astrocytoma10.0SELP, VWF
21secondary central precocious puberty10.0F8, VWF
22familial spastic paralysis10.0F8, VWF
23malignant type ab thymoma9.9F8, VWF
24von willibrand disease, type 39.9F8, VWF
25tympanosclerosis9.9F8, VWF
26leydig cell tumor9.9F8, VWF
27infantile-onset ascending hereditary spastic paralysis9.9F8, VWF
28duodenitis9.9
29otopalatodigital syndrome, type i9.9F8, VWF
30van maldergem syndrome 29.9F8, VWF
31thrombophilia due to activated protein c resistance9.9F8, VWF
32peripheral artery disease9.9SELP, VWF
33factor v deficiency9.8F8, VWF
34phagocyte bactericidal dysfunction9.8GP1BA, SELP
35pregnancy loss, recurrent 29.8F8, VWF
36tracheal cancer9.8ADAMTS13, GP1BA
37adrenal rest tumor9.8SELP, VWF
38littre gland carcinoma9.8GP1BA, SELP, VWF
39fiedler's myocarditis9.7ADAMTS13, SELP, VWF
40stroke, ischemic9.6SELP, VWF
41allain-babin-demarquez syndrome9.5F8, GP1BA, VWF
42perichondritis of auricle9.5F8, GP1BA, VWF
43malaria9.5ADAMTS13, SELP, VWF
44atrophic gastritis9.3ADAMTS13, GP1BA, SELP, VWF
45platelet storage pool deficiency9.3ADAMTS13, GP1BA, SELP, VWF
46pyridoxamine 5'-phosphate oxidase deficiency9.1F8, GP1BA, SELP, VWF
47wfs1-related disorders9.0ADAMTS13, F8, GP1BA, VWF
48type 2n von willebrand disease8.5ADAMTS13, F8, GP1BA, SELP, VWF
49pes anserinus tendinitis or bursitis8.5ADAMTS13, F8, GP1BA, SELP, VWF
50myocardial infarction8.5ADAMTS13, 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 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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Natriuretic AgentsPhase 21645
2VasopressinsPhase 2286
3HemostaticsPhase 21359
4Deamino Arginine VasopressinPhase 272
5Arginine VasopressinPhase 2290
6CoagulantsPhase 21428
7arginineNutraceuticalPhase 2408

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:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.3ADAMTS13, 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 46)
idTitleAuthorsYear
1
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia. (28060120)
2017
2
Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia. (27215777)
2016
3
Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality. (27148840)
2016
4
Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation. (27978591)
2016
5
Management of type 2b von Willebrand disease in the neonatal period. (27468167)
2016
6
Management of pregnancy in type 2B von Willebrand disease: case report and literature review. (25431025)
2015
7
First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease. (25851809)
2015
8
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
9
An update on type 2B von Willebrand disease. (24521271)
2014
10
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease. (24222967)
2013
11
A novel use of thromboelastography in type 2B von Willebrand disease. (23621544)
2013
12
Thrombocytopathy and type 2B von Willebrand disease. (24270415)
2013
13
Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease. (23970904)
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
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
17
Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions. (20371742)
2010
18
A randomised pilot trial of the anti-von Willebrand factor aptamer ARC1779 in patients with type 2b von Willebrand disease. (20589313)
2010
19
Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients. (19943880)
2010
20
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
21
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. (19060241)
2009
22
Decreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia. (18493997)
2008
23
Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF. (18725999)
2008
24
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
25
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype? (19085651)
2008
26
Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. (18776767)
2008
27
The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. (17922807)
2008
28
Distinguishing between non-identical twins: platelet type and type 2B von Willebrand disease. (17608761)
2007
29
Type 2B von Willebrand disease in seven individuals from three different families: phenotypic and genotypic characterization. (17598021)
2007
30
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
31
Onset of severe refractory thrombocytopenia following surgery in a patient with type 2B von Willebrand disease--a case report. (16753854)
2006
32
Molecular misdiagnosis in type 2B von Willebrand disease. (16783788)
2006
33
The value of genetic testing for type 2B Von Willebrand disease. (16430455)
2006
34
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
35
Type 2B and pseudo type 2B Von Willebrand disease; a report of three cases]. (16176858)
2006
36
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
37
Severe thrombocytopenia, type 2B von Willebrand disease and pregnancy. (15564956)
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
A case of type 2B von Willebrand disease reverse to normal when treated with high doses of protease inhibitor. (10595658)
1999
41
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
42
Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations. (9459349)
1998
43
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. (9858249)
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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Clinvar genetic disease variations for Type 2b Von Willebrand Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.4(VWF): c.3939G> C (p.Trp1313Cys)SNVPathogenicrs61749392GRCh37Chr 12, 6128645: 6128645
2VWFNM_000552.4(VWF): c.3916C> T (p.Arg1306Trp)SNVPathogenicrs61749384GRCh37Chr 12, 6128668: 6128668
3VWFNM_000552.4(VWF): c.3922C> T (p.Arg1308Cys)SNVPathogenicrs61749387GRCh37Chr 12, 6128662: 6128662
4VWFNM_000552.4(VWF): c.3946G> A (p.Val1316Met)SNVPathogenicrs61749397GRCh37Chr 12, 6128638: 6128638
5VWFNM_000552.4(VWF): c.4022G> A (p.Arg1341Gln)SNVPathogenicrs61749403GRCh37Chr 12, 6128562: 6128562
6VWFNM_000552.4(VWF): c.3940G> C (p.Val1314Leu)SNVPathogenicrs61749393GRCh37Chr 12, 6128644: 6128644
7VWFNM_000552.4(VWF): c.3797C> T (p.Pro1266Leu)SNVLikely pathogenic, Pathogenicrs61749370GRCh37Chr 12, 6128787: 6128787

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:000759910.0GP1BA, VWF
2blood coagulation, intrinsic pathwayGO:00075979.3F8, GP1BA, VWF
3platelet degranulationGO:00025769.1F8, SELP, VWF
4cell adhesionGO:00071559.0GP1BA, 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
1integrin bindingGO:00051789.4ADAMTS13, VWF
2glycoprotein bindingGO:00019489.2SELP, VWF

Sources for Type 2b Von Willebrand Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet