MCID: VNW006
MIFTS: 23

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

Genetic diseases, Blood diseases, Rare diseases categories

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

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Sources:
45OMIM, 10diseasecard, 60UMLS, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Von Willebrand Disease, Types 2a, 2b, 2m, and 2n, Aliases & Descriptions:

Name: Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 45 10
Von Willebrand Disease, Type 2 45 60
 
Von Willebrand Disease Type 2 47 22


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 2:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages


External Ids:

OMIM45 613554
Orphanet47 166081
MESH via Orphanet34 D056728
ICD10 via Orphanet26 D68.0
UMLS via Orphanet61 C1264040

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

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OMIM:45 Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous... (613554) more...

MalaCards based summary: Von Willebrand Disease, Types 2a, 2b, 2m, and 2n, also known as von willebrand disease, type 2, is related to von willebrand disease, type 1 and hemophilia, and has symptoms including autosomal dominant inheritance, autosomal recessive inheritance and menorrhagia. An important gene associated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n is VWF (von Willebrand factor).

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

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

idRelated DiseaseScoreTop Affiliating Genes
1von willebrand disease, type 110.3
2hemophilia10.3

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

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Symptoms by clinical synopsis from OMIM:

613554

Clinical features from OMIM:

613554

HPO human phenotypes related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 autosomal recessive inheritance HP:0000007
3 menorrhagia HP:0000132
4 epistaxis HP:0000421
5 bruising susceptibility HP:0000978
6 variable expressivity HP:0003828

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

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Drug clinical trials:

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

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

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

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Genetic tests related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

id Genetic test Affiliating Genes
1 Von Willebrand Disease Type 222

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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UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:

62 (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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1VWFNM_000552.3(VWF): c.3437A> G (p.Tyr1146Cys)single nucleotide variantPathogenicrs267607326GRCh37Chr 12, 6132007: 6132007
2VWFVWF, TRP1745CYSundetermined variantPathogenic
3VWFNM_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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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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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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