MCID: TYP017
MIFTS: 27

Type 2n Von Willebrand Disease malady

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Type 2n Von Willebrand Disease

About this section
Sources:
22GeneTests, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Type 2n Von Willebrand Disease:

Name: Type 2n Von Willebrand Disease 22
Von Willebrand Disease Type 2n 51 24
 
Von Willebrand Disease Type Iin 22
Von Willebrand Disease, Type 2n 65

Characteristics:

Orphanet epidemiological data:

51
von willebrand disease type 2n:
Inheritance: Autosomal recessive

Classifications:



External Ids:

Orphanet51 166093
ICD10 via Orphanet28 D68.0
UMLS via Orphanet66 C1282975
UMLS65 C1282975

Summaries for Type 2n Von Willebrand Disease

About this section
MalaCards based summary: Type 2n Von Willebrand Disease, also known as von willebrand disease type 2n, is related to severe hemophilia a and von willebrand disease, types 2a, 2b, 2m, and 2n. An important gene associated with Type 2n Von Willebrand Disease is VWF (Von Willebrand Factor), and among its related pathways are Platelet activation, signaling and aggregation and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include bone, thyroid and skeletal muscle.

Related Diseases for Type 2n Von Willebrand Disease

About this section

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

About this section

Drugs & Therapeutics for Type 2n Von Willebrand Disease

About this section

Interventional clinical trials:

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

Genetic Tests for Type 2n Von Willebrand Disease

About this section

Genetic tests related to Type 2n Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2n Von Willebrand Disease22

Anatomical Context for Type 2n Von Willebrand Disease

About this section

MalaCards organs/tissues related to Type 2n Von Willebrand Disease:

33
Bone, Thyroid, Skeletal muscle, Breast, Prostate, Endothelial, T cells

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

About this section

Publications for Type 2n Von Willebrand Disease

About this section

Articles related to Type 2n Von Willebrand Disease:

(show all 24)
idTitleAuthorsYear
1
Co-inheritance of mild hemophilia A and heterozygosity for type 2N von Willebrand disease: a diagnostic and therapeutic challenge. (24706524)
2014
2
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. (24418945)
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
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
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
24
Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques. (8822593)
1996

Variations for Type 2n Von Willebrand Disease

About this section

Expression for genes affiliated with Type 2n Von Willebrand Disease

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

Pathways for genes affiliated with Type 2n Von Willebrand Disease

About this section

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

About this section

Sources for Type 2n Von Willebrand Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet