VWD2
MCID: VNW010
MIFTS: 58

Von Willebrand Disease, Type 2 (VWD2)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste 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 2b 29 6 73
Von Willebrand Disease, Type 2a 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 recessive
autosomal dominant

Miscellaneous:
variable severity
there are several subtypes
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:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance autosomal dominant inheritance


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 pseudo-von willebrand disease and von willebrand's disease. 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 Degradation of the extracellular matrix. The drugs Vasopressins and arginine have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are thrombocytopenia 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

Diseases in the Von Willebrand's Disease family:

Pseudo-Von Willebrand Disease Von Willebrand Disease, Type 1
Von Willebrand Disease, Type 3 Von Willebrand Disease, Type 2
Acquired Von Willebrand Syndrome

Diseases related to Von Willebrand Disease, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 pseudo-von willebrand disease 32.5 GP1BA VWF
2 von willebrand's disease 30.6 ADAMTS13 F3 F8 GP1BA VWF
3 von willebrand disease, type 1 30.3 F3 F8 GP6 VWF
4 hemophilia a 30.3 F3 F7 F8 VWF
5 thrombocytopenia 30.0 ADAMTS13 F3 GP1BA ITGA2 ITGA2B ITGB3
6 hemophilia 30.0 F3 F7 F8 VWF
7 fainting 10.3 F8 VWF
8 cerebral arteritis 10.3 F8 VWF
9 bombay phenotype 10.2 ADAMTS13 VWF
10 brachydactyly, type d 10.2 F8 VWF
11 hepatitis 10.2
12 hepatitis c 10.2
13 acquired von willebrand syndrome 10.2 F8 GP1BA VWF
14 acquired hemophilia 10.2 F3 F8
15 acquired hemophilia a 10.2 F3 F8
16 factor viii deficiency 10.2 F8 VWF
17 fournier gangrene 10.2 F3 F8
18 aspirin resistance 10.2 ITGA2 ITGB3
19 sticky platelet syndrome 10.1 GP6 ITGB3
20 gray platelet syndrome 10.1 CD36 GP6 VWF
21 alcohol-related birth defect 10.1 F3 F8
22 thrombophilia due to activated protein c resistance 10.1 F3 F8 VWF
23 thrombophilia 10.1 F3 F8 VWF
24 qualitative platelet defect 10.1 CD36 F3 VWF
25 bleeding disorder, platelet-type, 11 10.1 CD36 GP6 ITGA2
26 thrombophilia due to thrombin defect 10.1 F3 F8 VWF
27 giant hemangioma 10.1 DLL1 F3
28 hemarthrosis 10.1 F7 F8 VWF
29 afibrinogenemia, congenital 10.1 F3 FGB VWF
30 thrombotic thrombocytopenic purpura 10.1 ADAMTS13 F3 VWF
31 catastrophic antiphospholipid syndrome 10.1 ADAMTS13 F3
32 antiphospholipid syndrome 10.1 ADAMTS13 F3 VWF
33 hemolytic-uremic syndrome 10.1 ADAMTS13 F3 VWF
34 prothrombin deficiency 10.1 F3 F7
35 burns 10.1
36 hellp syndrome 10.1 ADAMTS13 F3 VWF
37 bleeding disorder, platelet-type, 16 10.1 ITGA2B ITGB3
38 korean hemorrhagic fever 10.1 F3 VWF
39 afibrinogenemia 10.0 F3 F8 FGB VWF
40 factor vii deficiency 10.0 F3 F7 F8
41 hemophilia b 10.0 F3 F7 F8
42 autosomal dominant macrothrombocytopenia 10.0 GP1BA ITGA2B ITGB3
43 intermediate coronary syndrome 10.0 F3 ITGA2B VWF
44 disseminated intravascular coagulation 10.0 ADAMTS13 F3 F7
45 thrombocytopenia due to platelet alloimmunization 10.0 ITGA2 ITGA2B ITGB3
46 arteries, anomalies of 10.0 F3 ITGA2B VWF
47 caffey disease 10.0 CD36 F3
48 anterior cranial fossa meningioma 10.0 F3 F7
49 carotid artery thrombosis 10.0 F3 ITGA2B
50 vascular disease 10.0 F3 GP1BA ITGB3 VWF

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

Skin Nails Hair Skin:
easy bruising

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

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 thrombocytopenia 32 HP:0001873
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978
4 menorrhagia 32 HP:0000132

MGI Mouse Phenotypes related to Von Willebrand Disease, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 ADAMTS13 ATAT1 CD36 DLL1 F3 F8
2 homeostasis/metabolism MP:0005376 10.03 ADAMTS13 CD36 DLL1 F3 F7 F8
3 cellular MP:0005384 10.02 ATAT1 CD36 DLL1 F3 GP1BA ITGA2
4 cardiovascular system MP:0005385 10.01 CD36 DLL1 F3 F7 FGB ITGA2B
5 immune system MP:0005387 9.85 ADAMTS13 CD36 DLL1 F3 F8 GP6
6 mortality/aging MP:0010768 9.7 ADAMTS13 ATAT1 CD36 DLL1 F3 F7
7 normal MP:0002873 9.17 ADAMTS13 ATAT1 DLL1 F3 F7 ITGA2

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 Vasopressins Phase 2
2 arginine Phase 2
3 Natriuretic Agents Phase 2
4 Coagulants Phase 2
5 Deamino Arginine Vasopressin Phase 2
6 Hemostatics Phase 2
7 Arginine Vasopressin 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 2b 29
2 Von Willebrand Disease, Type 2a 29
3 Von Willebrand Disease Type 2m 29
4 Von Willebrand Disease Type 2n 29
5 Von Willebrand Disease Type 2 29 VWF

Anatomical Context for Von Willebrand Disease, Type 2

MalaCards organs/tissues related to Von Willebrand Disease, Type 2:

41
Heart, Skin

Publications for Von Willebrand Disease, Type 2

Articles related to Von Willebrand Disease, Type 2:

(show all 13)
# Title Authors Year
1
Von Willebrand Disease type 2 in pregnancy - A critical clinical association. ( 28559097 )
2017
2
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
3
Genotyping might help therapeutic decision-making in patients with von Willebrand disease type 2 B. ( 27353798 )
2016
4
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review-a commentary. ( 27422427 )
2016
5
Maxillary pseudotumor as initial manifestation of von Willebrand disease, type 2: report of a rare case and literature review. ( 26210168 )
2016
6
Autosomal dominant von Willebrand disease type 2M. ( 19506360 )
2009
7
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
8
Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1. ( 19506358 )
2009
9
Response to DDAVP in children with von Willebrand disease type 2. ( 19404524 )
2009
10
von Willebrand factor collagen binding assay with a commercial kit using type III collagen in von Willebrand disease type 2. ( 17408416 )
2007
11
Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. ( 10669167 )
2000
12
DDAVP treatment in a child with von Willebrand disease type 2M. ( 10650863 )
1999
13
New families with von Willebrand disease type 2M (Vicenza). ( 9253800 )
1997

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 60)
# 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.3797C> T (p.Pro1266Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61749370 GRCh37 Chromosome 12, 6128787: 6128787
45 VWF NM_000552.4(VWF): c.3797C> T (p.Pro1266Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61749370 GRCh38 Chromosome 12, 6019621: 6019621
46 VWF NM_000552.4(VWF): c.1071C> A (p.Tyr357Ter) single nucleotide variant Pathogenic rs61754002 GRCh37 Chromosome 12, 6181535: 6181535
47 VWF NM_000552.4(VWF): c.1071C> A (p.Tyr357Ter) single nucleotide variant Pathogenic rs61754002 GRCh38 Chromosome 12, 6072369: 6072369
48 VWF NM_000552.4(VWF): c.3178T> C (p.Cys1060Arg) single nucleotide variant Pathogenic rs61748497 GRCh37 Chromosome 12, 6134790: 6134790
49 VWF NM_000552.4(VWF): c.3178T> C (p.Cys1060Arg) single nucleotide variant Pathogenic rs61748497 GRCh38 Chromosome 12, 6025624: 6025624
50 VWF NM_000552.4(VWF): c.1583A> G (p.Asn528Ser) single nucleotide variant Pathogenic rs61754010 GRCh37 Chromosome 12, 6167161: 6167161

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

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 CD36 F3 F7 F8 FGB GP1BA
2
Show member pathways
12.57 FGB ITGA2 ITGA2B ITGB3
3
Show member pathways
12.13 FGB ITGA2B ITGB3 VWF
4 12.02 F3 F7 F8 FGB VWF
5
Show member pathways
12 F3 F7 F8 FGB GP1BA GP6
6 11.96 CD36 ITGA2 ITGB3
7
Show member pathways
11.93 FGB ITGA2B ITGB3 VWF
8 11.92 CD36 GP1BA ITGA2 ITGA2B ITGB3
9
Show member pathways
11.84 ITGA2 ITGA2B ITGB3
10
Show member pathways
11.82 FGB GP1BA ITGA2B ITGB3 VWF
11 11.79 CD36 GP1BA ITGA2 ITGA2B ITGB3
12 11.79 FGB GP1BA GP6 ITGA2 ITGA2B ITGB3
13 11.76 ITGA2 ITGA2B ITGB3
14
Show member pathways
11.73 CD36 FGB GP1BA GP6 ITGA2 ITGA2B
15 11.68 F3 ITGB3 VWF
16 11.65 ITGA2 ITGA2B ITGB3
17 11.45 ITGA2 ITGA2B ITGB3
18 11.44 ITGA2 ITGA2B ITGB3
19 11.04 ITGA2B ITGB3
20 10.9 ITGA2B ITGB3
21 10.87 CD36 FGB GP6 ITGA2 ITGA2B ITGB3
22 10.78 GP1BA GP6 ITGA2 VWF
23 10.54 GP1BA VWF

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 external side of plasma membrane GO:0009897 9.78 CD36 FGB ITGA2 ITGA2B
2 focal adhesion GO:0005925 9.72 ATAT1 ENSG00000259753 ITGA2 ITGA2B ITGB3
3 platelet alpha granule lumen GO:0031093 9.54 F8 FGB VWF
4 platelet alpha granule GO:0031091 9.43 FGB VWF
5 platelet alpha granule membrane GO:0031092 9.33 CD36 ITGA2B ITGB3
6 cell surface GO:0009986 9.32 ADAMTS13 CD36 ENSG00000259753 F3 FGB GP1BA
7 serine-type peptidase complex GO:1905286 9.26 F3 F7
8 integrin complex GO:0008305 9.26 ENSG00000259753 ITGA2 ITGA2B ITGB3
9 plasma membrane GO:0005886 10.14 CD36 DLL1 F3 F7 F8 FGB
10 extracellular space GO:0005615 10 ADAMTS13 CD36 F3 F7 F8 FGB

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.98 CD36 ENSG00000259753 GP1BA ITGA2 ITGA2B ITGB3
2 extracellular matrix organization GO:0030198 9.88 FGB ITGA2 ITGA2B ITGB3 VWF
3 platelet degranulation GO:0002576 9.85 CD36 F8 FGB ITGA2B ITGB3 VWF
4 integrin-mediated signaling pathway GO:0007229 9.8 ADAMTS13 ENSG00000259753 ITGA2 ITGA2B ITGB3
5 protein processing GO:0016485 9.73 ADAMTS13 F3 F7
6 cell-matrix adhesion GO:0007160 9.73 ADAMTS13 ENSG00000259753 FGB ITGA2 ITGA2B ITGB3
7 platelet aggregation GO:0070527 9.72 ENSG00000259753 FGB GP1BA ITGA2B ITGB3
8 cell adhesion mediated by integrin GO:0033627 9.7 ENSG00000259753 ITGA2 ITGB3
9 platelet activation GO:0030168 9.7 ADAMTS13 F8 FGB GP1BA GP6 ITGB3
10 blood coagulation GO:0007596 9.7 ADAMTS13 CD36 F3 F7 F8 FGB
11 cell-substrate adhesion GO:0031589 9.69 ITGA2 ITGB3 VWF
12 blood coagulation, intrinsic pathway GO:0007597 9.67 F8 GP1BA VWF
13 positive regulation of positive chemotaxis GO:0050927 9.63 F3 F7 ITGA2
14 fibrinolysis GO:0042730 9.62 FGB GP1BA
15 apoptotic cell clearance GO:0043277 9.61 CD36 ITGB3
16 mesodermal cell differentiation GO:0048333 9.61 ITGA2 ITGB3
17 positive regulation of blood coagulation GO:0030194 9.6 CD36 F7
18 positive regulation of leukocyte migration GO:0002687 9.59 ITGA2 ITGA2B
19 response to amine GO:0014075 9.58 ADAMTS13 ITGA2
20 positive regulation of phagocytosis, engulfment GO:0060100 9.58 CD36 ITGA2
21 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.57 ATAT1 CD36
22 blood coagulation, extrinsic pathway GO:0007598 9.55 F3 F7
23 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.54 F3 F7
24 hemostasis GO:0007599 9.23 ADAMTS13 F3 F7 F8 FGB GP1BA

Molecular functions related to Von Willebrand Disease, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.43 F3 ITGB3 VWF
2 collagen binding GO:0005518 9.33 GP6 ITGA2 VWF
3 integrin binding GO:0005178 9.02 ADAMTS13 ENSG00000259753 ITGA2 ITGB3 VWF
4 fibrinogen binding GO:0070051 8.96 ITGA2B ITGB3
5 protein binding GO:0005515 10.17 ADAMTS13 CD36 DLL1 F3 F7 F8

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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