MCID: TYP015
MIFTS: 28

Type 2b Von Willebrand Disease malady

Summaries for Type 2b Von Willebrand Disease

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MalaCards: Type 2b Von Willebrand Disease, also known as von willebrand disease, type 2b, is related to thrombocytopenia and pseudo-von willebrand disease. 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 Platelet Adhesion to exposed collagen. The compounds recombinate and tributylphosphate have been mentioned in the context of this disorder. Related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Aliases & Classifications for Type 2b Von Willebrand Disease

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20GeneTests, 22GTR, 60UMLS
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Aliases & Descriptions:

type 2b von willebrand disease 20 22
von willebrand disease, type 2b 60


Related Diseases for Type 2b Von Willebrand Disease

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17GeneCards, 18GeneDecks
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Diseases related to Type 2b Von Willebrand Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1thrombocytopenia31.0F8, VWF, GP1BA, SELP, ADAMTS13
2pseudo-von willebrand disease30.5GP1BA, VWF
3duodenitis10.3
4duodenal disease10.3
5von willebrand disease, types 2a, 2b, 2m, and 2n10.3
6glanzmann's thrombasthenia10.0VWF
7connective tissue disease10.0VWF
8factor xii deficiency10.0VWF
9coronary thrombosis10.0VWF
10factor viii deficiency10.0F8
11factor xi deficiency10.0F8
12purpura10.0ADAMTS13
13hemophilia b10.0F8
14thrombotic thrombocytopenic purpura, acquired10.0ADAMTS13
15liver cirrhosis10.0ADAMTS13
16portal vein thrombosis10.0F8
17proteinuria10.0ADAMTS13
18cerebrovascular disease10.0SELP
19kaposi's sarcoma10.0F8
20polycythemia vera10.0SELP
21malaria10.0ADAMTS13
22angiosarcoma10.0VWF
23hypersensitivity reaction type ii disease10.0VWF, F8
24hemarthrosis10.0F8, VWF
25intracranial thrombosis10.0VWF, F8
26hemorrhagic disease10.0VWF, F8
27hemolytic-uremic syndrome10.0ADAMTS13, VWF
28afibrinogenemia10.0VWF, F8
29cystic fibrosis10.0F8
30hellp syndrome10.0ADAMTS13, VWF
31disseminated intravascular coagulation10.0F8, ADAMTS13
32hypothyroidism10.0F8, VWF
33deficiency anemia10.0ADAMTS13, VWF
34sickle cell disease10.0SELP, VWF
35hemolytic anemia10.0ADAMTS13, VWF
36stroke, ischemic10.0SELP, VWF
37hypercholesterolemia10.0SELP, F8
38peripheral vascular disease10.0SELP, VWF
39hemorrhagic thrombocythemia10.0VWF, SELP
40atherosclerosis10.0SELP, VWF
41blood platelet disease10.0F8, VWF, GP1BA
42intermittent claudication10.0VWF, SELP
43bernard-soulier syndrome10.0F8, VWF, GP1BA
44myeloproliferative disorder10.0VWF, SELP
45ischemia10.0ADAMTS13, SELP
46familial hyperlipidemia10.0SELP, GP1BA
47insulin resistance10.0VWF, F8
48thrombocytosis10.0SELP, GP1BA, VWF
49systemic lupus erythematosus10.0ADAMTS13, VWF, F8
50hyperhomocysteinemia10.0SELP, VWF, F8

Graphical network of the top 20 diseases related to Type 2b Von Willebrand Disease:



Diseases related to type 2b von willebrand disease

Clinical Features for Type 2b Von Willebrand Disease

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Drugs & Therapeutics for Type 2b Von Willebrand Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Type 2b Von Willebrand Disease

Drug clinical trials:

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Search NIH Clinical Center for Type 2b Von Willebrand Disease

Search CenterWatch for Type 2b Von Willebrand Disease

Genetic Tests for Type 2b Von Willebrand Disease

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20GeneTests, 22GTR
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Genetic tests related to Type 2b Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2b Von Willebrand Disease20
2 Von Willebrand Disease, Type 2b22

Anatomical Context for Type 2b Von Willebrand Disease

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Animal Models for Type 2b Von Willebrand Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Type 2b Von Willebrand Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.5VWF, GP1BA, SELP, ADAMTS13, F8
2MP:00053977.2ADAMTS13, SELP, GP1BA, VWF, F8

Publications for Type 2b Von Willebrand Disease

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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type 2b Von Willebrand Disease

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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 52R&D Systems
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Compounds for genes affiliated with Type 2b Von Willebrand Disease

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44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1recombinate449.9VWF, F8
2tributylphosphate449.9F8, VWF
3kogenate449.9F8, VWF
4rfviii449.9VWF, F8
5tranexamic acid44 1110.8F8, VWF
6warfarin44 49 11 2412.6SELP, VWF
7aprotinin44 1110.6SELP, VWF
8tetramethylpyrazine449.6SELP, VWF
9sodium chlorate449.5VWF, SELP
10echistatin449.5VWF, SELP
1111-dehydrothromboxane b2449.5SELP, VWF
12ppack449.5SELP, VWF
13quinapril44 1110.5SELP, VWF
14ivig449.5F8, VWF
15tirofiban44 1110.5SELP, VWF
16polysulfone449.5SELP, VWF
17clopidogrel49 44 11 2412.4SELP, VWF
18dipyridamole44 59 28 1112.4SELP, VWF
19txb2449.4SELP, VWF
20latex449.3F8, VWF, GP1BA
21dermatan sulfate449.3VWF, SELP
22rituximab44 49 1111.3F8, VWF, ADAMTS13
23methionine449.2GP1BA, VWF, F8
24cyclophosphamide44 49 1111.2ADAMTS13, VWF, F8
25hydroxyethyl starch449.1SELP, VWF, F8
26abciximab44 1110.1SELP, GP1BA, VWF
27thromboxane44 2410.1SELP, VWF
28kininogen449.1SELP, GP1BA, VWF
29thromboxane a244 2410.1F8, VWF, SELP
30homocysteine44 2410.0SELP, VWF, F8
31citrate449.0F8, VWF, SELP
32formaldehyde44 2410.0SELP, GP1BA, VWF
33ticlopidine44 1110.0ADAMTS13, SELP, VWF
34norepinephrine44 11 2410.9F8, VWF, SELP
35fluvastatin44 49 28 1111.9SELP, VWF
36aspartate448.8SELP, VWF, F8
37hirudin448.6SELP, GP1BA, VWF, F8
38prostacyclin448.6F8, VWF, GP1BA, SELP
39phosphatidylserine44 28 1110.6F8, VWF, GP1BA, SELP
40aspirin44 49 28 2411.6F8, VWF, GP1BA, SELP
41epinephrine44 11 2410.6F8, VWF, GP1BA, SELP
42lactate448.5SELP, GP1BA, VWF, F8
43cyclosporin a44 28 5910.5F8, VWF, SELP, ADAMTS13
44creatinine448.4F8, VWF, SELP, ADAMTS13
45serine448.4ADAMTS13, GP1BA, VWF, F8
46tyrosine448.2SELP, GP1BA, VWF, F8
47ristocetin448.0ADAMTS13, SELP, GP1BA, VWF, F8
48desmopressin44 59 28 1111.0F8, VWF, GP1BA, SELP, ADAMTS13
49fibrinogen448.0F8, VWF, GP1BA, SELP, ADAMTS13
50heparin44 28 11 2411.0F8, VWF, GP1BA, SELP, ADAMTS13

GO Terms for genes affiliated with Type 2b Von Willebrand Disease

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16Gene Ontology
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Cellular components related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.5VWF, F8

Biological processes related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:0075979.0GP1BA, VWF, F8
2platelet degranulationGO:0025768.6F8, VWF, SELP
3blood coagulationGO:0075968.2SELP, GP1BA, VWF, F8
4cell adhesionGO:0071557.9SELP, GP1BA, VWF, F8
5platelet activationGO:0301687.6ADAMTS13, SELP, GP1BA, VWF, F8

Molecular functions related to Type 2b Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integrin bindingGO:0051789.4ADAMTS13, VWF
2glycoprotein bindingGO:0019488.9SELP, VWF

Products for genes affiliated with Type 2b Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 2b Von Willebrand Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet