MCID: TYP015
MIFTS: 34

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 adenocarcinoma and myocardial infarction. An important gene associated with Type 2b Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways are Platelet activation and ECM-receptor interaction. Affiliated tissues include heart, breast and lung, and related mouse phenotypes are hematopoietic system and homeostasis/metabolism.

Related Diseases for Type 2b Von Willebrand Disease

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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
Heart, Breast, Lung, Bone, Prostate, B cells, Temporal lobe

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 41)
idTitleAuthorsYear
1
Correlation of Clinical and Biomechanical Outcomes of Accelerated Crosslinking (9 mW/cm(2) in 10 minutes) in Keratoconus with Molecular Expression of Ectasia-Related Genes. (27159267)
2016
2
Large Cell Neuroendocrine Carcinoma of the Head and Neck: A Clinicopathologic Series of 10 Cases With an Emphasis on HPV Status. (26735857)
2016
3
Germ Cell Cancer and Multiple Relapses: Toxicity and Survival. (26240225)
2015
4
Critical congenital heart disease screening tools may reduce neonatal deaths. (25585444)
2014
5
Induced sputum compared to bronchoalveolar lavage in young, non-expectorating cystic fibrosis children. (23806622)
2014
6
Relationship between the paraoxonase 1 gene glutamine 192 to arginine polymorphism and gestational diabetes mellitus in Saudi women. (25036896)
2014
7
CCN2 inhibits lung cancer metastasis through promoting DAPK-dependent anoikis and inducing EGFR degradation. (23175185)
2013
8
Francisella tularensis Bacteremia: A Case Report from Sudan. (22830063)
2012
9
Milia-like Idiopathic Calcinosis Cutis Occurring in a Toddler Born as a Premature Baby. (22148017)
2011
10
B cell activating factor is elevated in acute idiopathic thrombotic thrombocytopenic purpura. (21615379)
2011
11
Downregulation of gephyrin in temporal lobe epilepsy neurons in humans and a rat model. (21404332)
2011
12
Does osteocytic SOST suppression mediate PTH bone anabolism? (20074973)
2010
13
Crosstalk between activated forms of the aryl hydrocarbon receptor and glucocorticoid receptor. (19463884)
2009
14
Mutant p53 (G199V) gains antiapoptotic function through signal transducer and activator of transcription 3 in anaplastic thyroid cancer cells. (19825993)
2009
15
Elevated plasma corticotrophin-releasing hormone levels in veterans with posttraumatic stress disorder. (18037027)
2008
16
Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study. (18455228)
2008
17
Relations between autoantibodies against oxidized low-density lipoprotein, inflammation, subclinical atherosclerosis, and cardiovascular disease in rheumatoid arthritis. (18597411)
2008
18
Bayesian meta-analysis of tissue angiotensin-converting enzyme inhibitors for reduction of adverse cardiovascular events in patients with diabetes mellitus and preserved left ventricular function. (18326970)
2008
19
Synthesis and structure-activity relationships of soluble 8-substituted 4-(2-chlorophenyl)-9-hydroxypyrrolo[3,4-c]carbazole-1,3(2H,6H)-diones as inhibitors of the Wee1 and Chk1 checkpoint kinases. (18191399)
2008
20
Microscopic colitis demonstrates a T helper cell type 1 mucosal cytokine profile. (16775121)
2007
21
Lipid peroxidation and antioxidant status in blood and tissue of malignant breast tumor and benign breast disease. (16616293)
2006
22
Gilbert's disease and atazanavir: from phenotype to UDP-glucuronosyltransferase haplotype. (17058217)
2006
23
Changes in erythrocyte superoxide dismutase and catalase activity in premature newborns with intraventricular haemorrhages]. (16898591)
2006
24
Syringomyelia associated with intradural arachnoid cysts. (16925076)
2006
25
Serum nitric oxide metabolite levels and the effect of antipsychotic therapy in schizophrenia. (15610909)
2004
26
Purinergic stimulation induces Ca2+-dependent activation of Na+-K+-2Cl- cotransporter in human nasal epithelia. (14982922)
2004
27
Pharmacokinetic-pharmacodynamic modelling of recombinant human erythropoietin in athletes. (12784166)
2003
28
Tularemia. (12420417)
2002
29
Imiquimod 5% cream in the treatment of superficial basal cell carcinoma: results of a multicenter 6-week dose-response trial. (11312429)
2001
30
TGF-beta I gene polymorphism in heart transplant recipients--effect on renal function. (11803605)
2001
31
Circulating ghrelin levels are decreased in human obesity. (11289032)
2001
32
Histopathological investigation of experimental ocular toxocariasis in gerbils. (10704597)
2000
33
Rectally administered misoprostol for the treatment of postpartum hemorrhage unresponsive to oxytocin and ergometrine: a descriptive study. (9916976)
1999
34
Effect of potent antiretroviral therapy on recurrent cytomegalovirus retinitis treated with the ganciclovir implant. (10088737)
1999
35
Overexpression of mitogen-activated protein kinase kinase kinase reversed cAMP inhibition of NF-kappaB in T cells. (9022022)
1997
36
Haematogenous dissemination of prostatic epithelial cells during radical prostatectomy. (7491049)
1995
37
The potential role of the heparin-binding growth factor pleiotrophin in breast cancer. (7533562)
1994
38
Behavioural and biochemical responses following activation of midbrain dopamine pathways by receptor selective neurokinin agonists. (1719444)
1991
39
Confirmation of X-linked hypogammaglobulinemia with isolated growth hormone deficiency as a disease entity. (2299506)
1990
40
Gynaecomastia in two prepubertal boys with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. (457432)
1979
41
Sclerosing hemangioma of the lung; an interesting problem of differential diagnosis. (13444086)
1957

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