MCID: TYP017
MIFTS: 30

Type 2n Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories

Aliases & Classifications for Type 2n Von Willebrand Disease

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Sources:
20GeneTests, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Type 2n Von Willebrand Disease:

Name: Type 2n Von Willebrand Disease 20
Von Willebrand Disease Type 2n 48 22
 
Von Willebrand Disease, Type 2n 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
von willebrand disease type 2n:
Inheritance: Autosomal recessive


External Ids:

Orphanet48 166093
ICD10 via Orphanet26 D68.0
UMLS via Orphanet62 C1282975

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 2n, is related to hemophilia a and hemarthrosis. An important gene associated with Type 2n Von Willebrand Disease is VWF (von Willebrand factor), 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.

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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Drug clinical trials:

Search ClinicalTrials for Type 2n Von Willebrand Disease

Search 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 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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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

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

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 Pathway36
Complement and Coagulation Cascades36
9.1F8, VWF
4
Show member pathways
9.1F8, VWF

Compounds for genes affiliated with Type 2n Von Willebrand Disease

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

(show all 42)
idCompoundScoreTop Affiliating Genes
1recombinate449.6VWF, F8
2tributylphosphate449.6F8, VWF
3kogenate449.6F8, VWF
4rfviii449.6VWF, F8
5hydroxyethyl starch449.6F8, VWF
6tranexamic acid44 1110.5VWF, F8
7ristocetin449.5VWF, F8
8desmopressin44 60 28 1112.5VWF, F8
9hirudin449.5F8, VWF
10ivig449.5F8, VWF
11warfarin44 50 24 1112.5VWF, F8
12rituximab44 50 1111.5F8, VWF
13acetaminophen44 1 50 24 1113.5VWF, F8
14thromboxane a244 2410.5VWF, F8
15latex449.5VWF, F8
16homocysteine44 2410.5F8, VWF
17prednisolone44 28 1111.5VWF, F8
18citrate449.5F8, VWF
19agarose449.5VWF, F8
20cyclophosphamide44 50 1111.5F8, VWF
21prostacyclin449.5F8, VWF
22phosphatidylserine44 28 1111.5F8, VWF
23aspirin44 50 28 2412.5F8, VWF
24epinephrine44 24 1111.5F8, VWF
25methionine449.5F8, VWF
26fibrinogen449.4VWF, F8
27norepinephrine44 24 1111.4VWF, F8
28phospholipid449.4VWF, F8
29cyclosporin a44 28 6011.4F8, VWF
30glutamine449.4F8, VWF
31lactate449.4F8, VWF
32creatinine449.4VWF, F8
33aspartate449.4VWF, F8
34heparin44 28 24 1112.3F8, VWF
35cholesterol44 28 24 1112.3F8, VWF
36oligonucleotide449.3F8, VWF
37dexamethasone44 50 28 1112.2F8, VWF
38vegf449.2F8, VWF
39arginine449.1F8, VWF
40adp44 28 2411.1VWF, F8
41nitric oxide44 24 1111.0F8, VWF
42alanine448.8F8, VWF

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:00075979.2F8, VWF
2platelet degranulationGO:00025769.1F8, VWF
3blood coagulationGO:00075969.1F8, VWF
4platelet activationGO:00301689.0VWF, F8
5cell adhesionGO:00071558.8F8, VWF

Sources for Type 2n Von Willebrand Disease

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet