MCID: TYP017
MIFTS: 18

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 24
Von Willebrand Disease Type Iin 24
 
Von Willebrand Disease, Type 2n 68

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 hemophilia a. 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 & Phenotypes 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 Disease24

Anatomical Context for Type 2n Von Willebrand Disease

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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.2372C> T (p.Thr791Met)SNVPathogenicrs61748477GRCh37Chr 12, 6153527: 6153527
2VWFNM_000552.4(VWF): c.2446C> T (p.Arg816Trp)SNVPathogenicrs121964894GRCh37Chr 12, 6145654: 6145654
3VWFNM_000552.4(VWF): c.2561G> A (p.Arg854Gln)SNVPathogenicrs41276738GRCh37Chr 12, 6143978: 6143978
4VWFNM_000552.4(VWF): c.2384A> G (p.Tyr795Cys)SNVPathogenicrs61748478GRCh37Chr 12, 6153515: 6153515
5VWFNM_000552.4(VWF): c.2411G> T (p.Cys804Phe)SNVPathogenicrs62643630GRCh37Chr 12, 6153488: 6153488
6VWFNM_000552.4(VWF): c.1071C> A (p.Tyr357Ter)SNVPathogenicrs61754002GRCh37Chr 12, 6181535: 6181535
7VWFNM_000552.4(VWF): c.3178T> C (p.Cys1060Arg)SNVPathogenicrs61748497GRCh37Chr 12, 6134790: 6134790

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 coagulationGO:00075969.7F8, VWF
2blood coagulation, intrinsic pathwayGO:00075979.7F8, VWF
3platelet activationGO:00301689.7F8, VWF
4platelet degranulationGO:00025769.1F8, VWF

Sources for Type 2n Von Willebrand Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet