MCID: TYP017
MIFTS: 19

Type 2n Von Willebrand Disease malady

Categories: Genetic diseases

Aliases & Classifications for Type 2n Von Willebrand Disease

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 69

Classifications:



Summaries for Type 2n Von Willebrand Disease

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/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades.

Related Diseases for Type 2n Von Willebrand Disease

Diseases related to Type 2n Von Willebrand Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
id Related Disease Score Top Affiliating Genes
1 von willebrand disease, types 2a, 2b, 2m, and 2n 11.5
2 hemophilia a 10.2
3 hemophilia 10.2
4 glanzmann thrombasthenia 10.0
5 hemarthrosis 10.0
6 thrombasthenia 10.0
7 mild hemophilia a 10.0
8 severe hemophilia a 10.0
9 vcl-related familial hypertrophic cardiomyopathy 10.0 F8 VWF
10 vcp-related amyotrophic lateral sclerosis/frontotemporal dementia 10.0 F8 VWF
11 high anorectal malformation 10.0 F8 VWF
12 headache 10.0 F8 VWF
13 vcl-related dilated cardiomyopathy 10.0 F8 VWF
14 acromegaloid hypertrichosis syndrome 10.0 F8 VWF
15 alpha-2-macroglobulin deficiency 10.0 F8 VWF
16 hypertrichosis 10.0 F8 VWF
17 pineal region meningioma 10.0 F8 VWF
18 fletcher factor deficiency 10.0 F8 VWF
19 myotonic dystrophy 10.0 F8 VWF
20 essential thrombocythemia 10.0 F8 VWF
21 renal adenoma 9.9 F8 VWF
22 thyroid cancer, anaplastic 9.9 F8 VWF
23 otopalatodigital syndrome, type i 9.9 F8 VWF
24 atrophic nonflaccid tympanic membrane 9.9 F8 VWF
25 pregnancy loss, recurrent 1 9.9 F8 VWF
26 aids dementia complex 9.9 F8 VWF
27 ocular hyperemia 9.9 F8 VWF
28 pyridoxamine 5'-phosphate oxidase deficiency 9.9 F8 VWF
29 immunodeficiency, common variable, 6 9.9 F8 VWF
30 myeloproliferative neoplasm 9.9 F8 VWF
31 perichondritis of auricle 9.8 F8 VWF
32 myocardial infarction 9.8 F8 VWF
33 giant papillary conjunctivitis 9.8 F8 VWF
34 membranoproliferative glomerulonephritis 9.7 F8 VWF

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

Drugs & Therapeutics for Type 2n Von Willebrand Disease

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

Genetic Tests for Type 2n Von Willebrand Disease

Genetic tests related to Type 2n Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2n Von Willebrand Disease 24

Anatomical Context for Type 2n Von Willebrand Disease

Publications for Type 2n Von Willebrand Disease

Articles related to Type 2n Von Willebrand Disease:

(show all 24)
id Title Authors Year
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
Interaction of factor VIII and von Willebrand factor and the identification of type 2N von Willebrand disease. ( 21084106 )
2011
5
Therapeutic consequences for misdiagnosis of type 2N von Willebrand disease. ( 21425451 )
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
Type 2N von Willebrand disease. ( 16131435 )
2005
11
Pregnancy and delivery in patients with homozygous or heterozygous R854Q type 2N von Willebrand disease. ( 15670054 )
2005
12
Type 2N von Willebrand disease mutations in Brazilian individuals. ( 15357773 )
2004
13
First identification and expression of a type 2N von Willebrand disease mutation (E1078K) located in exon 25 of von Willebrand factor gene. ( 15613050 )
2004
14
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. ( 15461624 )
2004
15
Type 2N von Willebrand disease: clinical manifestations, pathophysiology, laboratory diagnosis and molecular biology. ( 11686103 )
2001
16
Unexpected presentation of type 2N von Willebrand disease in pregnancy. ( 11122399 )
2000
17
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
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 due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene. ( 9792286 )
1998
20
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
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
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
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
24
Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques. ( 8822593 )
1996

Variations for Type 2n Von Willebrand Disease

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.2372C> T (p.Thr791Met) single nucleotide variant Pathogenic rs61748477 GRCh37 Chromosome 12, 6153527: 6153527
2 VWF NM_000552.4(VWF): c.2446C> T (p.Arg816Trp) single nucleotide variant Pathogenic rs121964894 GRCh37 Chromosome 12, 6145654: 6145654
3 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh37 Chromosome 12, 6143978: 6143978
4 VWF NM_000552.4(VWF): c.2384A> G (p.Tyr795Cys) single nucleotide variant Pathogenic rs61748478 GRCh37 Chromosome 12, 6153515: 6153515
5 VWF NM_000552.4(VWF): c.2411G> T (p.Cys804Phe) single nucleotide variant Pathogenic rs62643630 GRCh37 Chromosome 12, 6153488: 6153488
6 VWF NM_000552.4(VWF): c.1071C> A (p.Tyr357Ter) single nucleotide variant Pathogenic rs61754002 GRCh37 Chromosome 12, 6181535: 6181535
7 VWF NM_000552.4(VWF): c.3178T> C (p.Cys1060Arg) single nucleotide variant Pathogenic rs61748497 GRCh37 Chromosome 12, 6134790: 6134790

Expression for Type 2n Von Willebrand Disease

Search GEO for disease gene expression data for Type 2n Von Willebrand Disease.

Pathways for Type 2n Von Willebrand Disease

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 F8 VWF
2 10.77 F8 VWF

GO Terms for Type 2n Von Willebrand Disease

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

id Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

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

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.32 F8 VWF
2 platelet degranulation GO:0002576 9.26 F8 VWF
3 platelet activation GO:0030168 9.16 F8 VWF
4 hemostasis GO:0007599 8.96 F8 VWF
5 blood coagulation, intrinsic pathway GO:0007597 8.62 F8 VWF

Sources for Type 2n Von Willebrand Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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