MCID: TYP017
MIFTS: 30

Type 2n Von Willebrand Disease malady

Genetic diseases (common) category
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Summaries for Type 2n Von Willebrand Disease

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33MalaCards
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MalaCards: Type 2n Von Willebrand Disease, also known as von willebrand disease, type 2n, is related to hemarthrosis and hemophilia. An important gene associated with Type 2n Von Willebrand Disease is F8 (coagulation factor VIII, procoagulant component), and among its related pathways are Hemostasis and Response to elevated platelet cytosolic Ca2+. The compounds recombinate and tributylphosphate have been mentioned in the context of this disorder.

Aliases & Classifications for Type 2n Von Willebrand Disease

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20GeneTests, 22GTR, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

type 2n von willebrand disease 20 22
von willebrand disease, type 2n 62


Related Diseases for Type 2n Von Willebrand Disease

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Type 2n Von Willebrand Disease:



Diseases related to type 2n von willebrand disease

Symptoms for Type 2n Von Willebrand Disease

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Drugs & Therapeutics for Type 2n Von Willebrand Disease

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Type 2n Von Willebrand Disease

Genetic Tests for Type 2n Von Willebrand Disease

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

id Genetic test Affiliating Genes
1 Type 2n Von Willebrand Disease20
2 Von Willebrand Disease Type 2n22

Anatomical Context for Type 2n Von Willebrand Disease

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

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Publications for Type 2n Von Willebrand Disease

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52PubMed
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Articles related to Type 2n Von Willebrand Disease:

(show all 23)
idTitleAuthorsYear
1
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. (24418945)
2014
2
Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees. (24351655)
2013
3
Interaction of factor VIII and von Willebrand factor and the identification of type 2N von Willebrand disease. (21084106)
2011
4
Therapeutic consequences for misdiagnosis of type 2N von Willebrand disease. (21425451)
2011
5
Type 2N von Willebrand disease (Normandy)]. (18647572)
2008
6
Identifying carriers of type 2N von Willebrand disease: procedures and significance. (17456630)
2007
7
Use of a new enzyme-linked immunosorbent assay for the detection of type 2N von Willebrand disease and its prevalence in an Indian population. (16607072)
2006
8
Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide. (16953269)
2006
9
Type 2N von Willebrand disease. (16131435)
2005
10
Pregnancy and delivery in patients with homozygous or heterozygous R854Q type 2N von Willebrand disease. (15670054)
2005
11
Type 2N von Willebrand disease mutations in Brazilian individuals. (15357773)
2004
12
First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene. (15613050)
2004
13
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. (15461624)
2004
14
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. (11686103)
2001
15
Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor. (10706867)
2000
16
Unexpected presentation of type 2N von Willebrand disease in pregnancy. (11122399)
2000
17
A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations. (10494764)
1999
18
Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F)--detection of a novel candidate type 2N mutation: C2810T (R854W). (9684781)
1998
19
Type 2N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene. (9792286)
1998
20
A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies. (9129031)
1997
21
Changes in factor VIII binding capacity of von Willebrand factor and factor VIII coagulant activity in two patients with type 2N von Willebrand disease after hemostatic treatment and during pregnancy. (8854570)
1996
22
Factor VIII binding assay of von Willebrand factor and the diagnosis of type 2N von Willebrand disease--results of an international survey. On behalf of the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the ISTH. (8865544)
1996
23
Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques. (8822593)
1996

Variations for Type 2n Von Willebrand Disease

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Type 2n Von Willebrand Disease:

1
id Gene Name Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.2561G> A (p.Arg854Gln)single nucleotide variantPathogenicrs41276738GRCh37Chr 12, 6143978: 6143978

Expression for genes affiliated with Type 2n Von Willebrand Disease

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

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Pathways for genes affiliated with Type 2n Von Willebrand Disease

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 53QIAGEN, 54R&D Systems
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Pathways related to Type 2n Von Willebrand Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1F8, VWF
2
Show member pathways
9.1F8, VWF
3
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
9.1F8, VWF
4
Show member pathways
9.1F8, VWF

Compounds for genes affiliated with Type 2n Von Willebrand Disease

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45Novoseek, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Type 2n Von Willebrand Disease according to GeneCards/GeneDecks:

(show all 42)
idCompoundScoreTop Affiliating Genes
1recombinate459.6F8, VWF
2tributylphosphate459.6VWF, F8
3kogenate459.6VWF, F8
4rfviii459.6F8, VWF
5hydroxyethyl starch459.6F8, VWF
6tranexamic acid45 1110.5VWF, F8
7ristocetin459.5F8, VWF
8desmopressin45 61 29 1112.5F8, VWF
9hirudin459.5VWF, F8
10ivig459.5F8, VWF
11warfarin45 51 24 1112.5VWF, F8
12rituximab45 51 1111.5F8, VWF
13acetaminophen45 3 51 24 1113.5F8, VWF
14thromboxane a245 2410.5VWF, F8
15latex459.5F8, VWF
16homocysteine45 2410.5F8, VWF
17prednisolone45 29 1111.5VWF, F8
18citrate459.5F8, VWF
19agarose459.5F8, VWF
20cyclophosphamide45 51 1111.5VWF, F8
21prostacyclin459.5F8, VWF
22phosphatidylserine45 29 1111.5VWF, F8
23aspirin45 51 29 2412.5F8, VWF
24epinephrine45 24 1111.5F8, VWF
25methionine459.5VWF, F8
26fibrinogen459.4F8, VWF
27norepinephrine45 24 1111.4VWF, F8
28phospholipid459.4F8, VWF
29cyclosporin a45 29 6111.4F8, VWF
30glutamine459.4VWF, F8
31lactate459.4F8, VWF
32creatinine459.4VWF, F8
33aspartate459.4F8, VWF
34heparin45 29 24 1112.3F8, VWF
35cholesterol45 29 24 1112.3VWF, F8
36oligonucleotide459.3F8, VWF
37dexamethasone45 51 29 1112.2VWF, F8
38vegf459.2F8, VWF
39arginine459.1F8, VWF
40adp45 29 2411.1F8, VWF
41nitric oxide45 24 1111.0VWF, F8
42alanine458.8F8, VWF

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

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.1F8, VWF

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:0075979.2VWF, F8
2platelet degranulationGO:0025769.1F8, VWF
3blood coagulationGO:0075969.1F8, VWF
4platelet activationGO:0301689.0F8, VWF
5cell adhesionGO:0071558.8VWF, F8

Products for genes affiliated with Type 2n Von Willebrand Disease

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  • Antibodies
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Sources for Type 2n Von Willebrand Disease

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet