MCID: TYP014
MIFTS: 29

Type 2a Von Willebrand Disease malady

Genetic diseases (common) category

Summaries for Type 2a Von Willebrand Disease

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34MalaCards
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MalaCards: Type 2a Von Willebrand Disease, also known as von willebrand disease, type 2a, is related to myocardial infarction and leukemia. An important gene associated with Type 2a Von Willebrand Disease is VWF (von Willebrand factor), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Complement and coagulation cascades. The compounds recombinate and kogenate have been mentioned in the context of this disorder.

Aliases & Classifications for Type 2a Von Willebrand Disease

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21GeneTests, 23GTR, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

type 2a von willebrand disease 21 23
von willebrand disease, type 2a 63


Related Diseases for Type 2a Von Willebrand Disease

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Type 2a Von Willebrand Disease:



Diseases related to type 2a von willebrand disease

Symptoms for Type 2a Von Willebrand Disease

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Drugs & Therapeutics for Type 2a Von Willebrand Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Type 2a Von Willebrand Disease

Genetic Tests for Type 2a Von Willebrand Disease

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21GeneTests, 23GTR
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Genetic tests related to Type 2a Von Willebrand Disease:

id Genetic test Affiliating Genes
1 Type 2a Von Willebrand Disease21
2 Von Willebrand Disease, Type 2a23

Anatomical Context for Type 2a Von Willebrand Disease

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

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Publications for Type 2a Von Willebrand Disease

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53PubMed
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Articles related to Type 2a Von Willebrand Disease:

(show all 20)
idTitleAuthorsYear
1
Structural basis of type 2A von Willebrand disease investigated by molecular dynamics simulations and experiments. (23110044)
2012
2
Modeling ADAMTS13-von Willebrand factor interaction: Implications for oxidative stress-related cardiovascular diseases and type 2A von Willebrand disease. (21937160)
2012
3
Identification and Functional Analysis of a Novel von Willebrand Factor Mutation in a Family with Type 2A von Willebrand Disease. (22479377)
2012
4
No excess surgical blood loss in patients with acquired type 2A von Willebrand disease. (21189095)
2011
5
Bleeding management of uterine conization using a pasteurized FVIII/VWF Concentrate in a woman affected by type 2A von willebrand disease. (18160560)
2009
6
L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease. (18397285)
2008
7
Diagnostic and therapeutic difficulties in type 2A von Willebrand disease: resolution. (16708129)
2006
8
Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations. (15842374)
2005
9
Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations. (15322948)
2004
10
Myocardial infarction following recombinant activated factor VII in a patient with type 2A von Willebrand disease. (15311160)
2004
11
C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX. (14755371)
2004
12
Study on genetic mutations of the vWF in type 2A von Willebrand disease]. (10932002)
2000
13
A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease. (11197223)
2000
14
Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease. (10203106)
1999
15
Mutation (Ala737-->Glu) in type 2A von Willebrand disease]. (11601234)
1999
16
Two novel mutations (Pro864His, Val867Glu) causing type 2A von Willebrand disease and affecting a single restriction site in exon 28. (9858250)
1998
17
Intranasal administration of demopressin (DDAVP) for type 1 and type 2A von Willebrand disease. (9608359)
1998
18
Acquired type 2A von Willebrand disease in chronic myelocytic leukemia. (8878731)
1996
19
A novel mutation (Leu817Pro) causing type 2A von Willebrand disease. (8562403)
1996
20
Analysis of Arg834Gln and Val902Glu type 2A von Willebrand disease mutations: studies with recombinant von Willebrand factor and correlation with patient characteristics. (8639896)
1996

Variations for Type 2a Von Willebrand Disease

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Expression for genes affiliated with Type 2a Von Willebrand Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Type 2a Von Willebrand Disease

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Pathways for genes affiliated with Type 2a Von Willebrand Disease

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Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 55R&D Systems
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Pathways related to Type 2a Von Willebrand Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0F8, VWF
2
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
9.0F8, VWF
3
Show member pathways
9.0F8, VWF

Compounds for genes affiliated with Type 2a Von Willebrand Disease

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 52PharmGKB, 25HMDB, 3BitterDB
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Compounds related to Type 2a Von Willebrand Disease according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1recombinate469.4F8, VWF
2kogenate469.4VWF, F8
3tributylphosphate469.4F8, VWF
4rfviii469.4VWF, F8
5hydroxyethyl starch469.4F8, VWF
6tranexamic acid46 1210.4F8, VWF
7ristocetin469.4VWF, F8
8desmopressin46 62 30 1212.4VWF, F8
9tgf beta1469.4ADAMTS1, F8
10hirudin469.4F8, VWF
11ivig469.4VWF, F8
12warfarin46 52 25 1212.4F8, VWF
13rituximab46 52 1211.4F8, VWF
14acetaminophen46 3 52 25 1213.4VWF, F8
15thromboxane a246 2510.3VWF, F8
16latex469.3VWF, F8
17homocysteine46 2510.3VWF, F8
18prednisolone46 30 1211.3F8, VWF
19citrate469.3F8, VWF
20agarose469.3F8, VWF
21cyclophosphamide46 52 1211.3VWF, F8
22prostacyclin469.2F8, VWF
23phosphatidylserine46 30 1211.2F8, VWF
24aspirin46 52 30 2512.1VWF, F8
25epinephrine46 25 1211.1F8, VWF
26methionine469.0VWF, F8
27phospholipid469.0VWF, F8
28fibrinogen468.9VWF, F8
29heparin46 30 25 1211.9F8, ADAMTS1, VWF
30norepinephrine46 25 1210.7VWF, F8
31serine468.7ADAMTS1, VWF, F8

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

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17Gene Ontology
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Cellular components related to Type 2a Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0F8, VWF

Biological processes related to Type 2a Von Willebrand Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.0F8, VWF
2blood coagulation, intrinsic pathwayGO:0075978.9F8, VWF
3platelet degranulationGO:0025768.7F8, VWF

Products for genes affiliated with Type 2a Von Willebrand Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Type 2a Von Willebrand Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet