MCID: TYP015
MIFTS: 30

Type 2b Von Willebrand Disease malady

Categories: Genetic diseases

Aliases & Classifications for Type 2b Von Willebrand Disease

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 69

Classifications:



Summaries for Type 2b Von Willebrand Disease

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/superpathways are Response to elevated platelet cytosolic Ca2+ and ECM-receptor interaction. The drugs Natriuretic Agents and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include testes, bone and bone marrow, and related phenotypes are hematopoietic system and homeostasis/metabolism

Related Diseases for Type 2b Von Willebrand Disease

Diseases related to Type 2b Von Willebrand Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 von willebrand disease, types 2a, 2b, 2m, and 2n 11.5
2 thrombocytopenia 10.3
3 trismus-pseudocamptodactyly syndrome 10.1 GP1BA VWF
4 prostatic hypertrophy 10.1 SELP VWF
5 monocular exotropia 10.1 GP1BA VWF
6 lupus erythematosus 10.1 SELP VWF
7 xerophthalmia 10.1 SELP VWF
8 osteogenesis imperfecta, type vii 10.1 SELP VWF
9 ischemic optic neuropathy 10.1 SELP VWF
10 immunodeficiency 20 10.1 GP1BA SELP
11 immunodeficiency 21 10.1 GP1BA VWF
12 gluten allergy 10.1 ADAMTS13 VWF
13 congenital chloride diarrhea 10.0 SELP VWF
14 vcl-related familial hypertrophic cardiomyopathy 10.0 F8 VWF
15 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.0 F8 VWF
16 chronic progressive external ophthalmoplegia 10.0 ADAMTS13 VWF
17 high anorectal malformation 10.0 F8 VWF
18 headache 10.0 F8 VWF
19 alpha-2-macroglobulin deficiency 10.0 F8 VWF
20 hypertrichosis 10.0 F8 VWF
21 pineal region meningioma 10.0 F8 VWF
22 fletcher factor deficiency 10.0 F8 VWF
23 myotonic dystrophy 10.0 F8 VWF
24 renal adenoma 10.0 F8 VWF
25 sertoli-leydig cell tumor 10.0 ADAMTS13 SELP
26 basilar artery insufficiency 10.0 SELP VWF
27 otopalatodigital syndrome, type i 10.0 F8 VWF
28 pregnancy loss, recurrent 1 10.0 F8 VWF
29 aids dementia complex 10.0 F8 VWF
30 immunodeficiency, common variable, 6 9.9 F8 VWF
31 acute proliferative glomerulonephritis 9.9 ADAMTS13 VWF
32 cervix small cell carcinoma 9.9 SELP VWF
33 bone development disease 9.9 GP1BA SELP VWF
34 duodenitis 9.9
35 giant papillary conjunctivitis 9.9 F8 VWF
36 septic myocarditis 9.9 ADAMTS13 SELP VWF
37 haemonchiasis 9.9 ADAMTS13 GP1BA VWF
38 tracheal disease 9.9 ADAMTS13 GP1BA VWF
39 adult t-cell leukemia 9.9 SELP VWF
40 acromegaloid hypertrichosis syndrome 9.8 F8 GP1BA VWF
41 essential thrombocythemia 9.8 F8 GP1BA VWF
42 membranoproliferative glomerulonephritis 9.8 ADAMTS13 F8 VWF
43 immunodeficiency due to defect in mapbp-interacting protein 9.8 ADAMTS13 SELP VWF
44 severe nonproliferative diabetic retinopathy 9.7 ADAMTS13 GP1BA SELP VWF
45 pyridoxamine 5'-phosphate oxidase deficiency 9.6 F8 GP1BA SELP VWF
46 thyroid cancer, anaplastic 9.6 ADAMTS13 F8 SELP VWF
47 perichondritis of auricle 9.6 ADAMTS13 F8 GP1BA VWF
48 vcl-related dilated cardiomyopathy 9.4 ADAMTS13 F8 GP1BA SELP VWF
49 atrophic nonflaccid tympanic membrane 9.4 ADAMTS13 F8 GP1BA SELP VWF
50 ocular hyperemia 9.4 ADAMTS13 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

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.35 ADAMTS13 F8 GP1BA SELP VWF
2 homeostasis/metabolism MP:0005376 9.02 ADAMTS13 F8 GP1BA SELP VWF

Drugs & Therapeutics for Type 2b Von Willebrand Disease

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

(show all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Agents Phase 2
2 Coagulants Phase 2
3 Hemostatics Phase 2
4 Deamino Arginine Vasopressin Phase 2
5 Vasopressins Phase 2
6 Arginine Vasopressin Phase 2
7 arginine Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2
2 A Study of the Pharmacokinetics, Pharmacodynamics, and Safety of ARC1779 Injection in Patients With Von Willebrand Disease Type 2B Withdrawn NCT00694785 Phase 2

Search NIH Clinical Center for Type 2b Von Willebrand Disease

Genetic Tests for Type 2b Von Willebrand Disease

Genetic tests related to Type 2b Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2b Von Willebrand Disease 24

Anatomical Context for Type 2b Von Willebrand Disease

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

39
Testes, Bone, Bone Marrow

Publications for Type 2b Von Willebrand Disease

Articles related to Type 2b Von Willebrand Disease:

(show all 46)
id Title Authors Year
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

ClinVar genetic disease variations for Type 2b Von Willebrand Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.3939G> C (p.Trp1313Cys) single nucleotide variant Pathogenic rs61749392 GRCh37 Chromosome 12, 6128645: 6128645
2 VWF NM_000552.4(VWF): c.3916C> T (p.Arg1306Trp) single nucleotide variant Pathogenic rs61749384 GRCh37 Chromosome 12, 6128668: 6128668
3 VWF NM_000552.4(VWF): c.3922C> T (p.Arg1308Cys) single nucleotide variant Pathogenic rs61749387 GRCh37 Chromosome 12, 6128662: 6128662
4 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 GRCh37 Chromosome 12, 6128638: 6128638
5 VWF NM_000552.4(VWF): c.4022G> A (p.Arg1341Gln) single nucleotide variant Pathogenic rs61749403 GRCh37 Chromosome 12, 6128562: 6128562
6 VWF NM_000552.4(VWF): c.3940G> C (p.Val1314Leu) single nucleotide variant Pathogenic rs61749393 GRCh37 Chromosome 12, 6128644: 6128644

Expression for Type 2b Von Willebrand Disease

Search GEO for disease gene expression data for Type 2b Von Willebrand Disease.

Pathways for Type 2b Von Willebrand Disease

GO Terms for Type 2b Von Willebrand Disease

Cellular components related to Type 2b Von Willebrand Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.56 ADAMTS13 F8 GP1BA VWF
2 cell adhesion GO:0007155 9.54 GP1BA SELP VWF
3 platelet degranulation GO:0002576 9.5 F8 SELP VWF
4 blood coagulation, intrinsic pathway GO:0007597 9.33 F8 GP1BA VWF
5 platelet activation GO:0030168 9.26 ADAMTS13 F8 GP1BA VWF
6 hemostasis GO:0007599 8.92 ADAMTS13 F8 GP1BA VWF

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 ADAMTS13 VWF
2 glycoprotein binding GO:0001948 8.62 SELP VWF

Sources for Type 2b Von Willebrand Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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