MCID: TYP017
MIFTS: 19

Type 2n Von Willebrand Disease malady

Category: Genetic diseases (common)

Aliases & Classifications for Type 2n Von Willebrand Disease

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Aliases & Descriptions for Type 2n Von Willebrand Disease:

Name: Type 2n Von Willebrand Disease 23
Von Willebrand Disease Type Iin 23
 
Von Willebrand Disease, Type 2n 66

Classifications:



Summaries for Type 2n Von Willebrand Disease

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MalaCards based summary: Type 2n Von Willebrand Disease, also known as von willebrand disease type iin, is related to von willebrand disease, types 2a, 2b, 2m, and 2n and von willebrand disease. An important gene associated with Type 2n Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades.

Related Diseases for Type 2n Von Willebrand Disease

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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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Type 2n Von Willebrand Disease

Genetic Tests for Type 2n Von Willebrand Disease

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Genetic tests related to Type 2n Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2n Von Willebrand Disease23

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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Articles related to Type 2n Von Willebrand Disease:

(show all 24)
idTitleAuthorsYear
1
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. (24418945)
2014
2
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. (24706524)
2014
3
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
4
Therapeutic consequences for misdiagnosis of type 2N von Willebrand disease. (21425451)
2011
5
Interaction of factor VIII and von Willebrand factor and the identification of type 2N von Willebrand disease. (21084106)
2011
6
Type 2N von Willebrand disease (Normandy)]. (18647572)
2008
7
Identifying carriers of type 2N von Willebrand disease: procedures and significance. (17456630)
2007
8
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
9
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
10
Pregnancy and delivery in patients with homozygous or heterozygous R854Q type 2N von Willebrand disease. (15670054)
2005
11
Type 2N von Willebrand disease. (16131435)
2005
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 mutations in Brazilian individuals. (15357773)
2004
15
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. (11686103)
2001
16
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
17
Unexpected presentation of type 2N von Willebrand disease in pregnancy. (11122399)
2000
18
A common splice site mutation is shared by two families with different type 2N von Willebrand disease mutations. (10494764)
1999
19
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
20
Type 2N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene. (9792286)
1998
21
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
22
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
23
Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques. (8822593)
1996
24
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

Variations for Type 2n Von Willebrand Disease

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Clinvar genetic disease variations for Type 2n Von Willebrand Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.4(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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Search GEO for disease gene expression data for Type 2n Von Willebrand Disease.

Pathways for genes affiliated with Type 2n Von Willebrand Disease

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

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Cellular components related to Type 2n Von Willebrand Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.1F8, VWF

Biological processes related to Type 2n Von Willebrand Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, intrinsic pathwayGO:00075979.6F8, VWF
2platelet degranulationGO:00025769.5F8, VWF
3platelet activationGO:00301689.2F8, VWF
4blood coagulationGO:00075969.1F8, VWF

Sources for Type 2n Von Willebrand Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet