MCID: VNW006
MIFTS: 26

Von Willebrand Disease, Types 2a, 2b, 2m, and 2n malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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48OMIM, 34MalaCards
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MalaCards: Von Willebrand Disease, Types 2a, 2b, 2m, and 2n, also known as von willebrand disease type 2a, is related to type 2n von willebrand disease and type 2b von willebrand disease. An important gene associated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n is VWF (von Willebrand factor).

Description from OMIM:48 613554

Aliases & Classifications for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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48OMIM, 50Orphanet, 63UMLS, 64UMLS via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 37MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
von willebrand disease type 2a:
Inheritance: Autosomal dominant,Autosomal recessive
von willebrand disease type 2:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable
von willebrand disease type 2m:
Inheritance: Autosomal dominant
von willebrand disease type 2b:
Inheritance: Autosomal dominant
von willebrand disease type 2n:
Inheritance: Autosomal recessive


Aliases & Descriptions:

von willebrand disease, types 2a, 2b, 2m, and 2n 48
von willebrand disease type 2a 50
von willebrand disease type 2m 50
von willebrand disease type 2b 50
von willebrand disease type 2n 50
von willebrand disease, type 2 63
von willebrand disease type 2 50


External Ids:

UMLS via Orphanet64 C1282968, C1264040, C1282974 C1282971, C1282975, more
OMIM48 613554
ICD10 via Orphanet27 D68.0
SNOMED-CT via Orphanet60 359711001, 359714009, 87397002 128107007, 359729006, 19520006, 359717002, 359721009, 359732009, more
MESH via Orphanet37 D056728

Related Diseases for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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18GeneCards, 19GeneDecks
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Diseases related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1type 2n von willebrand disease10.8
2type 2b von willebrand disease10.7
3type 2m von willebrand disease10.7
4thrombocytopenia10.6
5type 2a von willebrand disease10.6
6pseudo-von willebrand disease10.4
7hemophilia10.3
8type 1 von willebrand disease10.3

Graphical network of diseases related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:



Diseases related to von willebrand disease, types 2a, 2b, 2m, and 2n

Symptoms for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613554

Clinical features from OMIM:

613554

Drugs & Therapeutics for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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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 NIH Clinical Center for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Genetic Tests for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Anatomical Context for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Animal Models for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n or affiliated genes

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Publications for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Variations for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

65 (show all 36)
id Symbol AA change Variation ID SNP ID
1VWFp.Asn528SerVAR_005783
2VWFp.Gly550ArgVAR_005784
3VWFp.Thr791MetVAR_005786
4VWFp.Arg816TrpVAR_005787
5VWFp.Arg854GlnVAR_005789rs41276738
6VWFp.Pro1266LeuVAR_005791
7VWFp.His1268AspVAR_005792
8VWFp.Cys1272ArgVAR_005793
9VWFp.Arg1306TrpVAR_005794
10VWFp.Arg1308CysVAR_005795
11VWFp.Trp1313CysVAR_005796
12VWFp.Val1314LeuVAR_005797
13VWFp.Val1316MetVAR_005798
14VWFp.Val1318LeuVAR_005799
15VWFp.Gly1324SerVAR_005800
16VWFp.Arg1341GlnVAR_005801
17VWFp.Arg1374CysVAR_005802
18VWFp.Arg1374HisVAR_005803
19VWFp.Leu1460ValVAR_005806
20VWFp.Ala1461ValVAR_005807
21VWFp.Phe1514CysVAR_005808
22VWFp.Leu1540ProVAR_005809
23VWFp.Arg1597GlyVAR_005811
24VWFp.Arg1597GlnVAR_005812
25VWFp.Arg1597TrpVAR_005813
26VWFp.Val1607AspVAR_005814
27VWFp.Gly1609ArgVAR_005815
28VWFp.Ser1613ProVAR_005816
29VWFp.Ile1628ThrVAR_005817
30VWFp.Glu1638LysVAR_005818
31VWFp.Pro1648SerVAR_005819
32VWFp.Val1665GluVAR_005820
33VWFp.Cys2773ArgVAR_005822
34VWFp.Cys788TyrVAR_009141
35VWFp.Cys1060ArgVAR_028446
36VWFp.Cys1272PheVAR_067340

Clinvar genetic disease variations for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

1
id Gene Name Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.2561G> A (p.Arg854Gln)single nucleotide variantPathogenicrs41276738GRCh37Chr 12, 6143978: 6143978
2VWFNM_000552.3(VWF): c.3437A> G (p.Tyr1146Cys)single nucleotide variantPathogenicrs267607326GRCh37Chr 12, 6132007: 6132007
3VWFVWF, TRP1745CYSundetermined variantPathogenic
4VWFNM_000552.3(VWF): c.5347T> G (p.Ser1783Ala)single nucleotide variantPathogenicrs267607353GRCh37Chr 12, 6125363: 6125363

Expression for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

Search GEO for disease gene expression data for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n.

Pathways for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Compounds for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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GO Terms for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Products for genes affiliated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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Sources for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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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