MCID: TYP015
MIFTS: 33

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:
22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Type 2b Von Willebrand Disease:

Name: Type 2b Von Willebrand Disease 22
Von Willebrand Disease Type 2b 51 24
 
Von Willebrand Disease, Type 2b 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
von willebrand disease type 2b:
Inheritance: Autosomal dominant


External Ids:

Orphanet51 166087
ICD10 via Orphanet28 D68.0
UMLS via Orphanet66 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 blood protein disease and thrombocytopenia. An important gene associated with Type 2b Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways are Platelet activation and Integrin alphaIIb beta3 signaling. Affiliated tissues include bone, testes 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 66)
idRelated DiseaseScoreTop Affiliating Genes
1blood protein disease29.6ADAMTS13, F8, GP1BA, SELP, VWF
2thrombocytopenia10.7
3thrombocytopenia 210.4
4von willebrand disease, types 2a, 2b, 2m, and 2n10.4
5von willibrand disease, type 310.4
6von willebrand disease, platelet-type10.4
7coagulation protein disease10.4
8thrombocytosis10.4
9von willebrand's disease10.4
10duodenitis10.4
11blood coagulation disease10.4
12blood platelet disease10.4
13inherited blood coagulation disease10.4
14vascular hemostatic disease10.4
15factor v leiden thrombophilia10.4
16split-hand/foot malformation with long bone deficiency 310.1GP1BA, VWF
17malignant otitis externa10.1GP1BA, VWF
18inner ear disease10.1GP1BA, VWF
19type 2n von willebrand disease10.1F8, VWF
20tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.1F8, VWF
21severe hemophilia a10.1F8, VWF
22familial hemangioma10.1F8, VWF
23autoimmune disease of endocrine system10.1ADAMTS13, GP1BA
24von willebrand disease, type 110.1F8, VWF
25dubowitz syndrome10.1F8, VWF
26interstitial myocarditis10.1F8, VWF
27skeletal muscle regeneration10.1F8, VWF
28allescheriosis10.1F8, VWF
29intrahepatic cholangiocarcinoma10.1F8, VWF
30tibial adamantinoma10.1ADAMTS13, VWF
31skin glomus tumor10.1ADAMTS13, VWF
32heterotopia, periventricular10.1F8, VWF
33bernard-soulier syndrome, type c10.1GP1BA, VWF
34factor v deficiency10.0F8, VWF
35thrombophilia due to activated protein c resistance10.0F8, VWF
36agammaglobulinemia x-linked type 210.0F8, VWF
37sick sinus syndrome10.0ADAMTS13, VWF
38thrombophilia due to thrombin defect10.0F8, VWF
39extrahepatic bile duct papillary adenoma10.0SELP, VWF
40ventricular septal defect10.0SELP, VWF
41laryngeal tuberculosis10.0GP1BA, SELP
42gray platelet syndrome10.0SELP, VWF
43intraocular lymphoma10.0SELP, VWF
44thrombocytopenic purpura, autoimmune10.0GP1BA, SELP
45thrombocytopenia cerebellar hypoplasia short stature9.9GP1BA, SELP
46blood group incompatibility9.9ADAMTS13, GP1BA, VWF
47purulent endophthalmitis9.9ADAMTS13, GP1BA, VWF
48thrombophlebitis9.9F8, VWF
49ewing's family of tumors9.9SELP, VWF
50tongue squamous cell carcinoma9.9ADAMTS13, 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
1Deamino Arginine VasopressinPhase 265

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 Disease22
2 Von Willebrand Disease, Type 2b24

Anatomical Context for Type 2b Von Willebrand Disease

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

33
Bone, Testes, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.5ADAMTS13, F8, GP1BA, SELP, VWF
2MP:00053767.2ADAMTS13, 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 40)
idTitleAuthorsYear
1
Management of pregnancy in type 2B von Willebrand disease: case report and literature review. (25431025)
2015
2
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
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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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:00310939.4F8, 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:00075979.4F8, GP1BA, VWF
3platelet degranulationGO:00025769.0F8, SELP, VWF
4cell adhesionGO:00071559.0GP1BA, SELP, VWF
5blood coagulationGO:00075967.8F8, GP1BA, SELP, VWF
6platelet activationGO:00301687.5ADAMTS13, F8, GP1BA, SELP, VWF

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

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:00051789.5ADAMTS13, VWF
2glycoprotein bindingGO:00019489.2SELP, VWF

Sources for Type 2b Von Willebrand Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet