MCID: TYP015
MIFTS: 35

Type 2b Von Willebrand Disease malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Type 2b Von Willebrand Disease

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Sources:
22GeneTests, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards 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 Iib 22
Von Willebrand Disease, Type 2b 65

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet51 166087
UMLS via Orphanet66 C1282971
ICD10 via Orphanet28 D68.0
UMLS65 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 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 bone, lung and breast, 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 2n11.4
2thrombocytopenia10.4
3heterophyiasis10.2SELP, VWF
4bubonic plague10.2ADAMTS13, VWF
5arteriosclerosis10.2SELP, VWF
6intraocular lymphoma10.2SELP, VWF
7split-hand/foot malformation with long bone deficiency 310.2GP1BA, VWF
8transient refractive change10.2GP1BA, VWF
9ewing's family of tumors10.1SELP, VWF
10acute kidney tubular necrosis10.1ADAMTS13, VWF
11renovascular hypertension10.1GP1BA, SELP
12tendinopathy10.1SELP, VWF
13autoimmune disease of cardiovascular system10.1ADAMTS13, GP1BA
14adenocarcinoma10.1ADAMTS13, SELP
15bernard-soulier syndrome, type c10.1GP1BA, VWF
16chronic venous insufficiency10.1SELP, VWF
17thrombocytopenic purpura, autoimmune10.1GP1BA, SELP
18bleeding disorder, platelet-type, 16, autosomal dominant10.1GP1BA, VWF
19duodenitis10.0
20hepatic cystic hamartoma10.0GP1BA, SELP
21type 2n von willebrand disease10.0F8, VWF
22tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy10.0F8, VWF
23adult acute lymphocytic leukemia10.0SELP, VWF
24severe hemophilia a10.0F8, VWF
25von willibrand disease, type 310.0F8, VWF
26benign pericardial teratoma10.0F8, VWF
27dysthymic disorder10.0F8, VWF
28skeletal muscle regeneration10.0F8, VWF
29heterotopia, periventricular10.0F8, VWF
30vitamin k deficiency hemorrhagic disease10.0ADAMTS13, VWF
31myoma9.9F8, VWF
32thrombophilia due to activated protein c resistance9.9F8, VWF
33agammaglobulinemia x-linked type 29.9F8, VWF
34pregnancy loss, recurrent 29.9F8, VWF
35mitochondrial metabolism disease9.9SELP, VWF
36pericardium disease9.9SELP, VWF
37spleen cancer9.8SELP, VWF
38partial motor epilepsy9.8ADAMTS13, SELP, VWF
39angular blepharoconjunctivitis9.7F8, VWF
40acquired thrombocytopenia9.7GP1BA, SELP, VWF
41stroke, ischemic9.6SELP, VWF
42malaria9.6ADAMTS13, SELP, VWF
43acral dysostosis dyserythropoiesis syndrome9.4F8, GP1BA, VWF
44blood platelet disease9.4F8, GP1BA, VWF
45stickler syndrome col2a19.4F8, GP1BA, VWF
46learning disability9.2ADAMTS13, GP1BA, SELP, VWF
47tongue squamous cell carcinoma9.2ADAMTS13, GP1BA, SELP, VWF
48thumb absent short stature immune deficiency9.0ADAMTS13, F8, SELP, VWF
49type 2m von willebrand disease8.4ADAMTS13, F8, GP1BA, SELP, VWF
50capillariasis8.4ADAMTS13, 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 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 268

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

Anatomical Context for Type 2b Von Willebrand Disease

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

33
Bone, Lung, Breast, Prostate, Tongue, Temporal lobe, B cells

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:00053767.4ADAMTS13, 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 43)
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 pregnancy in type 2B von Willebrand disease: case report and literature review. (25431025)
2015
4
First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease. (25851809)
2015
5
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
6
An update on type 2B von Willebrand disease. (24521271)
2014
7
A novel use of thromboelastography in type 2B von Willebrand disease. (23621544)
2013
8
Thrombocytopathy and type 2B von Willebrand disease. (24270415)
2013
9
Antigenic Peptides Capable of Inducing Specific Antibodies for Detection of the Major Alterations Found in Type 2B Von Willebrand Disease. (23970904)
2013
10
Spontaneous intramural duodenal hematoma in type 2B von Willebrand disease. (24222967)
2013
11
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
12
Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. (21301777)
2011
13
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
14
Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients. (19943880)
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
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
18
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. (19060241)
2009
19
Decreased clearance of von Willebrand factor in a patient with type 2B von Willebrand disease following development of immune thrombocytopenia. (18493997)
2008
20
Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF. (18725999)
2008
21
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype? (19085651)
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
Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow. (18776767)
2008
24
The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease. (17922807)
2008
25
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
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
Onset of severe refractory thrombocytopenia following surgery in a patient with type 2B von Willebrand disease--a case report. (16753854)
2006
29
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
30
Type 2B and pseudo type 2B Von Willebrand disease; a report of three cases]. (16176858)
2006
31
Molecular misdiagnosis in type 2B von Willebrand disease. (16783788)
2006
32
The value of genetic testing for type 2B Von Willebrand disease. (16430455)
2006
33
Severe thrombocytopenia, type 2B von Willebrand disease and pregnancy. (15564956)
2004
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
A first Taiwanese Chinese family of type 2B von Willebrand disease with R1306W mutation. (15041272)
2003
36
Platelet ultrastructural abnormalities in three patients with type 2B von Willebrand disease. (10997984)
2000
37
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
38
A case of type 2B von Willebrand disease reverse to normal when treated with high doses of protease inhibitor. (10595658)
1999
39
Identification of new type 2B von Willebrand disease mutations: Arg543Gln, Arg545Pro and Arg578Leu. (9858249)
1998
40
Platelet activation and aggregation induced by recombinant von Willebrand factors reproducing four type 2B von Willebrand disease missense mutations. (9459349)
1998
41
A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype. (9308766)
1997
42
Comparative analysis of type 2b von Willebrand disease mutations: implications for the mechanism of von Willebrand factor binding to platelets. (8630394)
1996
43
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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Biological processes related to Type 2b Von Willebrand Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00075979.4F8, GP1BA
2platelet activationGO:00301689.4ADAMTS13, SELP

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