MCID: TYP017
MIFTS: 30

Type 2n Von Willebrand Disease malady

Genetic diseases, Blood diseases, Rare diseases categories

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.

Aliases & Classifications for Type 2n Von Willebrand Disease

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Sources:
20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Type 2n Von Willebrand Disease, Aliases & Descriptions:

Name: Type 2n Von Willebrand Disease 20
Von Willebrand Disease Type 2n 47 22
 
Von Willebrand Disease, Type 2n 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
von willebrand disease type 2n:
Inheritance: Autosomal recessive


External Ids:

Orphanet47 166093
ICD10 via Orphanet26 D68.0
UMLS via Orphanet61 C1282975

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
1recombinate439.6F8, VWF
2tributylphosphate439.6VWF, F8
3kogenate439.6VWF, F8
4rfviii439.6F8, VWF
5hydroxyethyl starch439.6F8, VWF
6tranexamic acid43 1210.5VWF, F8
7ristocetin439.5F8, VWF
8desmopressin43 59 28 1212.5F8, VWF
9hirudin439.5VWF, F8
10ivig439.5F8, VWF
11warfarin43 49 24 1212.5VWF, F8
12rituximab43 49 1211.5F8, VWF
13acetaminophen43 2 49 24 1213.5F8, VWF
14thromboxane a243 2410.5VWF, F8
15latex439.5F8, VWF
16homocysteine43 2410.5F8, VWF
17prednisolone43 28 1211.5VWF, F8
18citrate439.5F8, VWF
19agarose439.5F8, VWF
20cyclophosphamide43 49 1211.5VWF, F8
21prostacyclin439.5F8, VWF
22phosphatidylserine43 28 1211.5VWF, F8
23aspirin43 49 28 2412.5F8, VWF
24epinephrine43 24 1211.5F8, VWF
25methionine439.5VWF, F8
26fibrinogen439.4F8, VWF
27norepinephrine43 24 1211.4VWF, F8
28phospholipid439.4F8, VWF
29cyclosporin a43 28 5911.4F8, VWF
30glutamine439.4VWF, F8
31lactate439.4F8, VWF
32creatinine439.4VWF, F8
33aspartate439.4F8, VWF
34heparin43 28 24 1212.3F8, VWF
35cholesterol43 28 24 1212.3VWF, F8
36oligonucleotide439.3F8, VWF
37dexamethasone43 49 28 1212.2VWF, F8
38vegf439.2F8, VWF
39arginine439.1F8, VWF
40adp43 28 2411.1F8, VWF
41nitric oxide43 24 1211.0VWF, F8
42alanine438.8F8, 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:00075979.2VWF, F8
2platelet degranulationGO:00025769.1F8, VWF
3blood coagulationGO:00075969.1F8, VWF
4platelet activationGO:00301689.0F8, VWF
5cell adhesionGO:00071558.8VWF, F8

Products for genes affiliated with Type 2n Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Type 2n Von Willebrand Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet