MCID: VNW010
MIFTS: 45

Von Willebrand Disease, Type 2

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Von Willebrand Disease, Type 2

MalaCards integrated aliases for Von Willebrand Disease, Type 2:

Name: Von Willebrand Disease, Type 2 57 44 40 73
Von Willebrand Disease Type 2m 59 75 29 6 73
Von Willebrand Disease Type 2n 59 75 29 6
Von Willebrand Disease Type 2 12 59 29 6
Von Willebrand Disease, Type 2a 29 6 73
Von Willebrand Disease, Type 2b 29 6 73
Vwd2 57 12 75
Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 57 13
Von Willebrand Disease Type Ii 12 75
Von Willebrand Disease Type 2a 59 75
Von Willebrand Disease Type 2b 59 75
Von Willebrand's Disease 2 12 15
Von Willebrand Disease Normandy Variant 75
Von Willebrand Factor Deficiency Type 2 75
Von Willebrand Disease Type I New York 75
Von Willebrand Disease Type 2 Malmo 75
Von Willebrand Disease, Type Ii 57
Von Willebrand Disease, Type 2n 73
Von Willebrand Disease 2 75
Vwd, Type 2 57
Vwd Type 2 12
Vwd2a 75
Vwd2b 75
Vwd2m 75
Vwd2n 75

Characteristics:

Orphanet epidemiological data:

59
von willebrand disease type 2a
Inheritance: Autosomal dominant,Autosomal recessive;
von willebrand disease type 2
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;
von willebrand disease type 2m
Inheritance: Autosomal dominant;
von willebrand disease type 2b
Inheritance: Autosomal dominant;
von willebrand disease type 2n
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
there are several subtypes
variable severity
most types show autosomal dominant inheritance
type 2n shows autosomal recessive inheritance
type 2a is characterized by deficiency of high molecular weight monomers
type 2b is characterized by increased affinity for platelet glycoprotein 1b
type 2m is characterized by decreased platelet adhesion in the presence of high molecular weight monomers
type 2n is characterized by decreased binding affinity for factor viii
type 2cb is characterized by defective binding affinity for collagen types i and iii


HPO:

32
von willebrand disease, type 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 613554
Disease Ontology 12 DOID:0060574
MeSH 44 D056728
ICD10 via Orphanet 34 D68.0
UMLS via Orphanet 74 C1282968 C1264040 C1282974 more
MESH via Orphanet 45 D056728

Summaries for Von Willebrand Disease, Type 2

OMIM : 57 Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma. It results from a defect in platelet aggregation due to defects in the von Willebrand factor. Von Willebrand factor is a large, multimeric protein that plays a role in platelet adhesion and also serves as a carrier for the thrombotic protein factor VIII (F8; 300841). F8 is mutated in hemophilia A (306700) (review by Goodeve, 2010). Whereas von Willebrand disease types 1 (193400) and 3 (277480) are characterized by quantitative defects in the VWF gene, von Willebrand disease type 2, which is divided in subtypes 2A, 2B, 2M, and 2N, is characterized by qualitative abnormalities of the VWF protein. The mutant VWF protein in types 2A, 2B, and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind F8. VWD2 accounts for 20 to 30% of cases of VWD (Mannucci, 2004; Sadler et al., 2006; Lillicrap, 2009; Goodeve, 2010). For a general discussion and a classification of the types of von Willebrand disease, see VWD type 1 (193400). (613554)

MalaCards based summary : Von Willebrand Disease, Type 2, also known as von willebrand disease type 2m, is related to von willebrand's disease and hemophilia. An important gene associated with Von Willebrand Disease, Type 2 is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). The drugs Arginine Vasopressin and Coagulants have been mentioned in the context of this disorder. Related phenotypes are menorrhagia and epistaxis

Disease Ontology : 12 A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has material basis in mutation in the VWF gene which maps to chromosome 12p13.

UniProtKB/Swiss-Prot : 75 von Willebrand disease 2: A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet- dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.

Related Diseases for Von Willebrand Disease, Type 2

Graphical network of the top 20 diseases related to Von Willebrand Disease, Type 2:



Diseases related to Von Willebrand Disease, Type 2

Symptoms & Phenotypes for Von Willebrand Disease, Type 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Hematology:
prolonged bleeding due to a qualitative defect in the vwf protein
defect in platelet aggregation
mucocutaneous bleeding
menorrhagia
patients with type 2b develop thrombocytopenia

Skin Nails Hair Skin:
easy bruising

Laboratory Abnormalities:
decreased levels of plasma factor viii in patients with type 2n


Clinical features from OMIM:

613554

Human phenotypes related to Von Willebrand Disease, Type 2:

32
# Description HPO Frequency HPO Source Accession
1 menorrhagia 32 HP:0000132
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978

Drugs & Therapeutics for Von Willebrand Disease, Type 2

Drugs for Von Willebrand Disease, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Arginine Vasopressin Phase 2
2 Coagulants Phase 2
3 Deamino Arginine Vasopressin Phase 2
4 Hemostatics Phase 2
5 Natriuretic Agents Phase 2
6 Vasopressins Phase 2
7 arginine Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
2 A Study of the Pharmacokinetics, Pharmacodynamics, and Safety of ARC1779 Injection in Patients With Von Willebrand Disease Type 2B Withdrawn NCT00694785 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779
3 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Completed NCT03078595

Search NIH Clinical Center for Von Willebrand Disease, Type 2

Cochrane evidence based reviews: von willebrand disease, type 2

Genetic Tests for Von Willebrand Disease, Type 2

Genetic tests related to Von Willebrand Disease, Type 2:

# Genetic test Affiliating Genes
1 Von Willebrand Disease, Type 2a 29
2 Von Willebrand Disease Type 2n 29
3 Von Willebrand Disease, Type 2b 29
4 Von Willebrand Disease Type 2m 29
5 Von Willebrand Disease Type 2 29 VWF

Anatomical Context for Von Willebrand Disease, Type 2

Publications for Von Willebrand Disease, Type 2

Articles related to Von Willebrand Disease, Type 2:

# Title Authors Year
1
Response to the commentary on "Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review". ( 27422428 )
2016
2
Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B. ( 27353798 )
2016
3
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review-a commentary. ( 27422427 )
2016
4
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review. ( 26210168 )
2016
5
Autosomal dominant von Willebrand disease type 2M. ( 19506360 )
2009
6
Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene. ( 19506361 )
2009
7
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1. ( 19506358 )
2009
8
Response to DDAVP in children with von Willebrand disease type 2. ( 19404524 )
2009
9
DDAVP treatment in a child with von Willebrand disease type 2M. ( 10650863 )
1999

Variations for Von Willebrand Disease, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Von Willebrand Disease, Type 2:

75 (show all 36)
# Symbol AA change Variation ID SNP ID
1 VWF p.Asn528Ser VAR_005783 rs61754010
2 VWF p.Gly550Arg VAR_005784 rs61754011
3 VWF p.Thr791Met VAR_005786 rs61748477
4 VWF p.Arg816Trp VAR_005787 rs121964894
5 VWF p.Arg854Gln VAR_005789 rs41276738
6 VWF p.Pro1266Leu VAR_005791 rs61749370
7 VWF p.His1268Asp VAR_005792 rs61749371
8 VWF p.Cys1272Arg VAR_005793 rs61749372
9 VWF p.Arg1306Trp VAR_005794 rs61749384
10 VWF p.Arg1308Cys VAR_005795 rs61749387
11 VWF p.Trp1313Cys VAR_005796 rs61749392
12 VWF p.Val1314Leu VAR_005797 rs61749393
13 VWF p.Val1316Met VAR_005798 rs61749397
14 VWF p.Val1318Leu VAR_005799
15 VWF p.Gly1324Ser VAR_005800 rs61749398
16 VWF p.Arg1341Gln VAR_005801 rs61749403
17 VWF p.Arg1374Cys VAR_005802 rs61750071
18 VWF p.Arg1374His VAR_005803 rs61750072
19 VWF p.Leu1460Val VAR_005806 rs61750088
20 VWF p.Ala1461Val VAR_005807 rs61750089
21 VWF p.Phe1514Cys VAR_005808 rs61750101
22 VWF p.Leu1540Pro VAR_005809 rs267607342
23 VWF p.Arg1597Gly VAR_005811 rs61750117
24 VWF p.Arg1597Gln VAR_005812 rs61750577
25 VWF p.Arg1597Trp VAR_005813 rs61750117
26 VWF p.Val1607Asp VAR_005814 rs61750579
27 VWF p.Gly1609Arg VAR_005815 rs61750580
28 VWF p.Ser1613Pro VAR_005816 rs61750581
29 VWF p.Ile1628Thr VAR_005817 rs61750584
30 VWF p.Glu1638Lys VAR_005818 rs61750588
31 VWF p.Pro1648Ser VAR_005819 rs61750590
32 VWF p.Val1665Glu VAR_005820 rs61750596
33 VWF p.Cys2773Arg VAR_005822 rs61751310
34 VWF p.Cys788Tyr VAR_009141 rs61748476
35 VWF p.Cys1060Arg VAR_028446 rs61748497
36 VWF p.Cys1272Phe VAR_067340 rs63524161

ClinVar genetic disease variations for Von Willebrand Disease, Type 2:

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 VWF NM_000552.4(VWF): c.4883T> C (p.Ile1628Thr) single nucleotide variant Pathogenic rs61750584 GRCh37 Chromosome 12, 6127701: 6127701
2 VWF NM_000552.4(VWF): c.4883T> C (p.Ile1628Thr) single nucleotide variant Pathogenic rs61750584 GRCh38 Chromosome 12, 6018535: 6018535
3 VWF NM_000552.4(VWF): c.4789C> T (p.Arg1597Trp) single nucleotide variant Likely pathogenic rs61750117 GRCh37 Chromosome 12, 6127795: 6127795
4 VWF NM_000552.4(VWF): c.4789C> T (p.Arg1597Trp) single nucleotide variant Likely pathogenic rs61750117 GRCh38 Chromosome 12, 6018629: 6018629
5 VWF NM_000552.4(VWF): c.4820T> A (p.Val1607Asp) single nucleotide variant Pathogenic rs61750579 GRCh37 Chromosome 12, 6127764: 6127764
6 VWF NM_000552.4(VWF): c.4820T> A (p.Val1607Asp) single nucleotide variant Pathogenic rs61750579 GRCh38 Chromosome 12, 6018598: 6018598
7 VWF NM_000552.4(VWF): c.3939G> C (p.Trp1313Cys) single nucleotide variant Pathogenic rs61749392 GRCh37 Chromosome 12, 6128645: 6128645
8 VWF NM_000552.4(VWF): c.3939G> C (p.Trp1313Cys) single nucleotide variant Pathogenic rs61749392 GRCh38 Chromosome 12, 6019479: 6019479
9 VWF NM_000552.4(VWF): c.3916C> T (p.Arg1306Trp) single nucleotide variant Pathogenic rs61749384 GRCh37 Chromosome 12, 6128668: 6128668
10 VWF NM_000552.4(VWF): c.3916C> T (p.Arg1306Trp) single nucleotide variant Pathogenic rs61749384 GRCh38 Chromosome 12, 6019502: 6019502
11 VWF NM_000552.4(VWF): c.3922C> T (p.Arg1308Cys) single nucleotide variant Pathogenic rs61749387 GRCh37 Chromosome 12, 6128662: 6128662
12 VWF NM_000552.4(VWF): c.3922C> T (p.Arg1308Cys) single nucleotide variant Pathogenic rs61749387 GRCh38 Chromosome 12, 6019496: 6019496
13 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 GRCh37 Chromosome 12, 6128638: 6128638
14 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 GRCh38 Chromosome 12, 6019472: 6019472
15 VWF NM_000552.4(VWF): c.4022G> A (p.Arg1341Gln) single nucleotide variant Pathogenic rs61749403 GRCh37 Chromosome 12, 6128562: 6128562
16 VWF NM_000552.4(VWF): c.4022G> A (p.Arg1341Gln) single nucleotide variant Pathogenic rs61749403 GRCh38 Chromosome 12, 6019396: 6019396
17 VWF NM_000552.4(VWF): c.4837T> C (p.Ser1613Pro) single nucleotide variant Pathogenic rs61750581 GRCh37 Chromosome 12, 6127747: 6127747
18 VWF NM_000552.4(VWF): c.4837T> C (p.Ser1613Pro) single nucleotide variant Pathogenic rs61750581 GRCh38 Chromosome 12, 6018581: 6018581
19 VWF NM_000552.4(VWF): c.2372C> T (p.Thr791Met) single nucleotide variant Pathogenic rs61748477 GRCh37 Chromosome 12, 6153527: 6153527
20 VWF NM_000552.4(VWF): c.2372C> T (p.Thr791Met) single nucleotide variant Pathogenic rs61748477 GRCh38 Chromosome 12, 6044361: 6044361
21 VWF NM_000552.4(VWF): c.2446C> T (p.Arg816Trp) single nucleotide variant Pathogenic rs121964894 GRCh37 Chromosome 12, 6145654: 6145654
22 VWF NM_000552.4(VWF): c.2446C> T (p.Arg816Trp) single nucleotide variant Pathogenic rs121964894 GRCh38 Chromosome 12, 6036488: 6036488
23 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh37 Chromosome 12, 6143978: 6143978
24 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh38 Chromosome 12, 6034812: 6034812
25 VWF NM_000552.4(VWF): c.3970G> A (p.Gly1324Ser) single nucleotide variant Pathogenic rs61749398 GRCh37 Chromosome 12, 6128614: 6128614
26 VWF NM_000552.4(VWF): c.3970G> A (p.Gly1324Ser) single nucleotide variant Pathogenic rs61749398 GRCh38 Chromosome 12, 6019448: 6019448
27 VWF NM_000552.4(VWF): c.3814T> C (p.Cys1272Arg) single nucleotide variant Pathogenic rs61749372 GRCh37 Chromosome 12, 6128770: 6128770
28 VWF NM_000552.4(VWF): c.3814T> C (p.Cys1272Arg) single nucleotide variant Pathogenic rs61749372 GRCh38 Chromosome 12, 6019604: 6019604
29 VWF NM_000552.4(VWF): c.3940G> C (p.Val1314Leu) single nucleotide variant Pathogenic rs61749393 GRCh37 Chromosome 12, 6128644: 6128644
30 VWF NM_000552.4(VWF): c.3940G> C (p.Val1314Leu) single nucleotide variant Pathogenic rs61749393 GRCh38 Chromosome 12, 6019478: 6019478
31 VWF NM_000552.4(VWF): c.4541T> G (p.Phe1514Cys) single nucleotide variant Pathogenic rs61750101 GRCh37 Chromosome 12, 6128043: 6128043
32 VWF NM_000552.4(VWF): c.4541T> G (p.Phe1514Cys) single nucleotide variant Pathogenic rs61750101 GRCh38 Chromosome 12, 6018877: 6018877
33 VWF NM_000552.4(VWF): c.1648G> A (p.Gly550Arg) single nucleotide variant Pathogenic rs61754011 GRCh37 Chromosome 12, 6167096: 6167096
34 VWF NM_000552.4(VWF): c.1648G> A (p.Gly550Arg) single nucleotide variant Pathogenic rs61754011 GRCh38 Chromosome 12, 6057930: 6057930
35 VWF NM_000552.4(VWF): c.8317T> C (p.Cys2773Arg) single nucleotide variant Pathogenic rs61751310 GRCh37 Chromosome 12, 6058306: 6058306
36 VWF NM_000552.4(VWF): c.8317T> C (p.Cys2773Arg) single nucleotide variant Pathogenic rs61751310 GRCh38 Chromosome 12, 5949140: 5949140
37 VWF VWF, 6-BP INS, NT1212 insertion Pathogenic
38 VWF NM_000552.4(VWF): c.3854C> T (p.Ser1285Phe) single nucleotide variant Pathogenic rs61749380 GRCh37 Chromosome 12, 6128730: 6128730
39 VWF NM_000552.4(VWF): c.3854C> T (p.Ser1285Phe) single nucleotide variant Pathogenic rs61749380 GRCh38 Chromosome 12, 6019564: 6019564
40 VWF NM_000552.4(VWF): c.2384A> G (p.Tyr795Cys) single nucleotide variant Pathogenic rs61748478 GRCh37 Chromosome 12, 6153515: 6153515
41 VWF NM_000552.4(VWF): c.2384A> G (p.Tyr795Cys) single nucleotide variant Pathogenic rs61748478 GRCh38 Chromosome 12, 6044349: 6044349
42 VWF NM_000552.4(VWF): c.2411G> T (p.Cys804Phe) single nucleotide variant Pathogenic rs62643630 GRCh37 Chromosome 12, 6153488: 6153488
43 VWF NM_000552.4(VWF): c.2411G> T (p.Cys804Phe) single nucleotide variant Pathogenic rs62643630 GRCh38 Chromosome 12, 6044322: 6044322
44 VWF NM_000552.4(VWF): c.1071C> A (p.Tyr357Ter) single nucleotide variant Pathogenic rs61754002 GRCh37 Chromosome 12, 6181535: 6181535
45 VWF NM_000552.4(VWF): c.1071C> A (p.Tyr357Ter) single nucleotide variant Pathogenic rs61754002 GRCh38 Chromosome 12, 6072369: 6072369
46 VWF NM_000552.4(VWF): c.3178T> C (p.Cys1060Arg) single nucleotide variant Pathogenic rs61748497 GRCh37 Chromosome 12, 6134790: 6134790
47 VWF NM_000552.4(VWF): c.3178T> C (p.Cys1060Arg) single nucleotide variant Pathogenic rs61748497 GRCh38 Chromosome 12, 6025624: 6025624
48 VWF NM_000552.4(VWF): c.1583A> G (p.Asn528Ser) single nucleotide variant Pathogenic rs61754010 GRCh37 Chromosome 12, 6167161: 6167161
49 VWF NM_000552.4(VWF): c.1583A> G (p.Asn528Ser) single nucleotide variant Pathogenic rs61754010 GRCh38 Chromosome 12, 6057995: 6057995
50 VWF NM_000552.4(VWF): c.3437A> G (p.Tyr1146Cys) single nucleotide variant Pathogenic rs267607326 GRCh37 Chromosome 12, 6132007: 6132007

Expression for Von Willebrand Disease, Type 2

Search GEO for disease gene expression data for Von Willebrand Disease, Type 2.

Pathways for Von Willebrand Disease, Type 2

GO Terms for Von Willebrand Disease, Type 2

Cellular components related to Von Willebrand Disease, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.96 F7 F8
2 platelet alpha granule lumen GO:0031093 8.62 F8 VWF

Biological processes related to Von Willebrand Disease, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ER to Golgi vesicle-mediated transport GO:0006888 9.37 F7 F8
2 platelet degranulation GO:0002576 9.32 F8 VWF
3 platelet activation GO:0030168 9.26 F8 VWF
4 blood coagulation, intrinsic pathway GO:0007597 9.16 F8 VWF
5 blood coagulation GO:0007596 9.13 F7 F8 VWF
6 hemostasis GO:0007599 8.8 F7 F8 VWF

Sources for Von Willebrand Disease, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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