VWD2
MCID: VNW010
MIFTS: 58

Von Willebrand Disease, Type 2 (VWD2)

Categories: Blood diseases, Genetic diseases, Immune 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 72
Von Willebrand Disease Type 2m 59 74 29 6 72
Von Willebrand Disease Type 2n 59 74 29 6
Von Willebrand Disease Type 2 12 59 29 6
Von Willebrand Disease, Type 2b 29 6 72
Von Willebrand Disease, Type 2a 29 6 72
Vwd2 57 12 74
Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 57 13
Von Willebrand Disease Type Ii 12 74
Von Willebrand Disease Type 2a 59 74
Von Willebrand Disease Type 2b 59 74
Von Willebrand's Disease 2 12 15
Von Willebrand Disease Normandy Variant 74
Von Willebrand Factor Deficiency Type 2 74
Von Willebrand Disease Type I New York 74
Von Willebrand Disease Type 2 Malmo 74
Von Willebrand Disease, Type Ii 57
Von Willebrand Disease, Type 2n 72
Von Willebrand Disease 2 74
Vwd, Type 2 57
Vwd Type 2 12
Vwd2a 74
Vwd2b 74
Vwd2m 74
Vwd2n 74

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:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0060574
OMIM 57 613554
MeSH 44 D056728
MESH via Orphanet 45 D056728
ICD10 via Orphanet 34 D68.0
UMLS via Orphanet 73 C1264040 C1282968 C1282971 more
UMLS 72 C1264040 C1282968 C1282971 more

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 acquired 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 Paradoxical activation of RAF signaling by kinase inactive BRAF. The drugs Hemostatics and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, 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 : 74 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 77)
# Related Disease Score Top Affiliating Genes
1 pseudo-von willebrand disease 33.2 VWF GP1BA
2 acquired hemophilia 31.1 F8 F3
3 von willebrand's disease 30.7 VWF GP1BA F8 F3 ADAMTS13
4 von willebrand disease, type 1 30.7 VWF GP6 F8 F3
5 thrombotic thrombocytopenic purpura 30.6 VWF F3 ADAMTS13
6 factor viii deficiency 30.4 VWF F8
7 hemophilia b 30.2 F8 F7 F3
8 thrombocytopenia due to platelet alloimmunization 30.2 ITGB3 ITGA2B ITGA2
9 hemophilia 30.2 VWF F8 F7 F3
10 hemophilia a 30.0 VWF F8 F7 F3
11 thrombocytopenia 29.7 ITGB3 ITGA2B ITGA2 GP1BA F3 ADAMTS13
12 purpura 29.5 VWF ITGB3 ITGA2B F3 ADAMTS13
13 hemorrhagic disease 28.3 VWF ITGA2B GP6 GP1BA F8 F7
14 fainting 10.7 VWF F8
15 cerebral arteritis 10.7 VWF F8
16 bombay phenotype 10.6 VWF ADAMTS13
17 acquired von willebrand syndrome 10.5 VWF GP1BA F8
18 brachydactyly, type d 10.5 VWF F8
19 acquired hemophilia a 10.5 F8 F3
20 fournier gangrene 10.5 F8 F3
21 aspirin resistance 10.4 ITGB3 ITGA2
22 gray platelet syndrome 10.4 VWF GP6 CD36
23 thrombophilia due to activated protein c resistance 10.3 VWF F8 F3
24 sticky platelet syndrome 10.3 ITGB3 GP6
25 thrombophilia 10.3 VWF F8 F3
26 thrombophilia due to thrombin defect 10.3 VWF F8 F3
27 qualitative platelet defect 10.3 VWF F3 CD36
28 hemarthrosis 10.3 VWF F8 F7
29 afibrinogenemia, congenital 10.3 VWF FGB F3
30 bleeding disorder, platelet-type, 11 10.3 ITGA2 GP6 CD36
31 antiphospholipid syndrome 10.3 VWF F3 ADAMTS13
32 hemolytic-uremic syndrome 10.3 VWF F3 ADAMTS13
33 giant hemangioma 10.3 F3 DLL1
34 alcohol-related birth defect 10.3 F8 F3
35 pain agnosia 10.3
36 liver cirrhosis 10.3
37 catastrophic antiphospholipid syndrome 10.2 F3 ADAMTS13
38 hellp syndrome 10.2 VWF F3 ADAMTS13
39 prothrombin deficiency 10.2 F7 F3
40 afibrinogenemia 10.2 VWF FGB F8 F3
41 bleeding disorder, platelet-type, 16 10.1 ITGB3 ITGA2B
42 arthus reaction 10.1
43 thrombocytosis 10.1
44 factor vii deficiency 10.1 F8 F7 F3
45 autosomal dominant macrothrombocytopenia 10.1 ITGB3 ITGA2B GP1BA
46 intermediate coronary syndrome 10.1 VWF ITGA2B F3
47 disseminated intravascular coagulation 10.1 F7 F3 ADAMTS13
48 human immunodeficiency virus type 1 10.0
49 hepatitis 10.0
50 angiodysplasia 10.0

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

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

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

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 cellular MP:0005384 10.07 ATAT1 CD36 DLL1 F3 GP1BA IGFBP7
3 homeostasis/metabolism MP:0005376 10.03 ADAMTS13 CD36 DLL1 F3 F7 F8
4 immune system MP:0005387 9.85 ADAMTS13 CD36 DLL1 F3 F8 GP6
5 mortality/aging MP:0010768 9.7 ADAMTS13 ATAT1 CD36 DLL1 F3 F7
6 reproductive system MP:0005389 9.23 ATAT1 F8 FGB GP6 IGFBP7 ITGA2B

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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 4
2 Natriuretic Agents Phase 4
3 Coagulants Phase 4
4 Deamino Arginine Vasopressin Phase 4
5 Vasopressins Phase 4
6 arginine Phase 4
7 Arginine Vasopressin Phase 4
8 Protamines Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4 desmopressin
2 Placebo-Controlled, Randomized, Double-Blind Trial of Prophylactic Desmopressin in Heart Valve Surgery Active, not recruiting NCT03343418 Phase 4 Desmopressin;Placebo
3 A Phase 2 Pilot Study of the Safety, Pharmacokinetics, and Pharmacodynamics of ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2 ARC1779;ARC1779;ARC1779;ARC1779;ARC1779
4 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
5 Is Gingival Bleeding a Symptom of Patients With Type 2 and 3 Von Willebrand Disease? A Case-Control Study 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 2n 29
2 Von Willebrand Disease, Type 2b 29
3 Von Willebrand Disease, Type 2a 29
4 Von Willebrand Disease Type 2m 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

Publications for Von Willebrand Disease, Type 2

Articles related to Von Willebrand Disease, Type 2:

(show top 50) (show all 91)
# Title Authors PMID Year
1
A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE. 8 71
20351307 2010
2
The genetic basis of von Willebrand disease. 8 71
20409624 2010
3
Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. 8 71
19687512 2009
4
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. 8 71
19060241 2009
5
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. 8 71
16889557 2006
6
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. 8 71
15461624 2004
7
A new mutation, S1285F, within the A1 loop of von Willebrand factor induces a conformational change in A1 loop with abnormal binding to platelet GPIb and botrocetin causing type 2M von Willebrand disease. 8 71
12588351 2003
8
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. 8 71
12406074 2002
9
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 8 71
8622978 1996
10
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. 8 71
7789955 1995
11
von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. 8 71
8486782 1993
12
Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden. 8 71
1419803 1992
13
Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX. 8 71
1419804 1992
14
Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease. 8 71
1729889 1992
15
An Arg545----Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease. 8 71
1761120 1991
16
Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A. 8 71
1906179 1991
17
The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene. 8 71
2018834 1991
18
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 8 71
2010538 1991
19
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 8 71
1672694 1991
20
Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 8 71
1673047 1991
21
Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. 8 71
2385594 1990
22
A new von Willebrand factor (vWF) defect in a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII interaction. 8 71
2104761 1990
23
IIB von Willebrand's disease: pathogenetic and therapeutic studies. 8 71
3132965 1988
24
von Willebrand's disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma: a new subtype. 8 71
3259690 1988
25
von Willebrand's disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma. 8 71
3488775 1986
26
Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS). 8 71
6696046 1984
27
Variant von Willebrand's disease: characterization of two subtypes by analysis of multimeric composition of factor VIII/von Willebrand factor in plasma and platelets. 8 71
6773982 1980
28
Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. 8 71
6767976 1980
29
Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation (G3864A; R1205H) in 8 families. 38 8
10669167 2000
30
New families with von Willebrand disease type 2M (Vicenza). 38 8
9253800 1997
31
Mutation and ADAMTS13-dependent modulation of disease severity in a mouse model for von Willebrand disease type 2B. 8
20200350 2010
32
Mutation-specific hemostatic variability in mice expressing common type 2B von Willebrand disease substitutions. 8
20371742 2010
33
The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF. 71
20335223 2010
34
Genotype/phenotype association in von Willebrand disease: is the glass half full or empty? 8
19630771 2009
35
von Willebrand Disease 71
20301765 2009
36
The role of molecular genetics in diagnosing von Willebrand disease. 8
19085649 2008
37
Genetics of type 2B von Willebrand disease: "true 2B," "tricky 2B," or "not 2B." What are the modifiers of the phenotype? 8
19085651 2008
38
Treatment of von Willebrand's Disease. 8
15306670 2004
39
Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand's disease. 71
9569179 1998
40
A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease. 71
8865541 1996
41
Von Willebrand's disease, digestive angiodysplasia, and estrogen-progesterone treatment. 8
8192164 1994
42
Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation. 71
8500791 1993
43
von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. 71
8456431 1993
44
Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease. 71
8435341 1993
45
Angiodysplasia and von Willebrand's disease type IIB treated with estrogen/progesterone therapy. 8
1288289 1992
46
von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib. 71
1409710 1992
47
Aortic stenosis and bleeding gastrointestinal angiodysplasia: is acquired von Willebrand's disease the link? 8
1351610 1992
48
Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII. 8
1566742 1992
49
von Willebrand disease masquerading as haemophilia A. 8
1631785 1992
50
A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele. 71
1581215 1992

Variations for Von Willebrand Disease, Type 2

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

6 (show all 34)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 12:6128638-6128638 12:6019472-6019472
2 VWF NM_000552.4(VWF): c.4022G> A (p.Arg1341Gln) single nucleotide variant Pathogenic rs61749403 12:6128562-6128562 12:6019396-6019396
3 VWF NM_000552.4(VWF): c.4837T> C (p.Ser1613Pro) single nucleotide variant Pathogenic rs61750581 12:6127747-6127747 12:6018581-6018581
4 VWF NM_000552.4(VWF): c.2372C> T (p.Thr791Met) single nucleotide variant Pathogenic rs61748477 12:6153527-6153527 12:6044361-6044361
5 VWF NM_000552.4(VWF): c.2446C> T (p.Arg816Trp) single nucleotide variant Pathogenic rs121964894 12:6145654-6145654 12:6036488-6036488
6 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 12:6143978-6143978 12:6034812-6034812
7 VWF NM_000552.4(VWF): c.3970G> A (p.Gly1324Ser) single nucleotide variant Pathogenic rs61749398 12:6128614-6128614 12:6019448-6019448
8 VWF NM_000552.4(VWF): c.3814T> C (p.Cys1272Arg) single nucleotide variant Pathogenic rs61749372 12:6128770-6128770 12:6019604-6019604
9 VWF NM_000552.4(VWF): c.3940G> C (p.Val1314Leu) single nucleotide variant Pathogenic rs61749393 12:6128644-6128644 12:6019478-6019478
10 VWF NM_000552.4(VWF): c.4541T> G (p.Phe1514Cys) single nucleotide variant Pathogenic rs61750101 12:6128043-6128043 12:6018877-6018877
11 VWF NM_000552.4(VWF): c.1648G> A (p.Gly550Arg) single nucleotide variant Pathogenic rs61754011 12:6167096-6167096 12:6057930-6057930
12 VWF NM_000552.4(VWF): c.8317T> C (p.Cys2773Arg) single nucleotide variant Pathogenic rs61751310 12:6058306-6058306 12:5949140-5949140
13 VWF VWF, 6-BP INS, NT1212 insertion Pathogenic
14 VWF NM_000552.4(VWF): c.3854C> T (p.Ser1285Phe) single nucleotide variant Pathogenic rs61749380 12:6128730-6128730 12:6019564-6019564
15 VWF NM_000552.4(VWF): c.2384A> G (p.Tyr795Cys) single nucleotide variant Pathogenic rs61748478 12:6153515-6153515 12:6044349-6044349
16 VWF NM_000552.4(VWF): c.2411G> T (p.Cys804Phe) single nucleotide variant Pathogenic rs62643630 12:6153488-6153488 12:6044322-6044322
17 VWF NM_000552.4(VWF): c.4883T> C (p.Ile1628Thr) single nucleotide variant Pathogenic rs61750584 12:6127701-6127701 12:6018535-6018535
18 VWF NM_000552.4(VWF): c.4820T> A (p.Val1607Asp) single nucleotide variant Pathogenic rs61750579 12:6127764-6127764 12:6018598-6018598
19 VWF NM_000552.4(VWF): c.3939G> C (p.Trp1313Cys) single nucleotide variant Pathogenic rs61749392 12:6128645-6128645 12:6019479-6019479
20 VWF NM_000552.4(VWF): c.3916C> T (p.Arg1306Trp) single nucleotide variant Pathogenic rs61749384 12:6128668-6128668 12:6019502-6019502
21 VWF NM_000552.4(VWF): c.1071C> A (p.Tyr357Ter) single nucleotide variant Pathogenic rs61754002 12:6181535-6181535 12:6072369-6072369
22 VWF NM_000552.4(VWF): c.3178T> C (p.Cys1060Arg) single nucleotide variant Pathogenic rs61748497 12:6134790-6134790 12:6025624-6025624
23 VWF NM_000552.4(VWF): c.1583A> G (p.Asn528Ser) single nucleotide variant Pathogenic rs61754010 12:6167161-6167161 12:6057995-6057995
24 VWF NM_000552.4(VWF): c.3437A> G (p.Tyr1146Cys) single nucleotide variant Pathogenic rs267607326 12:6132007-6132007 12:6022841-6022841
25 VWF VWF, TRP1745CYS undetermined variant Pathogenic
26 VWF NM_000552.4(VWF): c.5347T> G (p.Ser1783Ala) single nucleotide variant Pathogenic rs267607353 12:6125363-6125363 12:6016197-6016197
27 VWF NM_000552.4(VWF): c.4789C> T (p.Arg1597Trp) single nucleotide variant Pathogenic/Likely pathogenic rs61750117 12:6127795-6127795 12:6018629-6018629
28 VWF NM_000552.4(VWF): c.3922C> T (p.Arg1308Cys) single nucleotide variant Likely pathogenic rs61749387 12:6128662-6128662 12:6019496-6019496
29 VWF NM_000552.4(VWF): c.3797C> T (p.Pro1266Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs61749370 12:6128787-6128787 12:6019621-6019621
30 VWF NM_000552.4(VWF): c.1625C> G (p.Ala542Gly) single nucleotide variant Uncertain significance rs141649383 12:6167119-6167119 12:6057953-6057953
31 VWF NM_000552.4(VWF): c.2570A> G (p.Asn857Ser) single nucleotide variant Uncertain significance rs765163545 12:6143969-6143969 12:6034803-6034803
32 VWF NM_000552.4(VWF): c.1922C> T (p.Ala641Val) single nucleotide variant Uncertain significance rs61754019 12:6166046-6166046 12:6056880-6056880
33 VWF NM_000552.4(VWF): c.6859C> T (p.Arg2287Trp) single nucleotide variant Uncertain significance rs61750625 12:6094771-6094771 12:5985605-5985605
34 VWF NM_000552.4(VWF): c.7940C> T (p.Thr2647Met) single nucleotide variant Uncertain significance rs61751302 12:6062708-6062708 12:5953542-5953542

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

74 (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 rs372028373
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

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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 VWF ITGB3 ITGA2B ITGA2 GP6 GP1BA
2
Show member pathways
12.13 VWF ITGB3 ITGA2B FGB
3 12.02 VWF FGB F8 F7 F3
4
Show member pathways
12 VWF GP6 GP1BA FGB F8 F7
5
Show member pathways
11.93 VWF ITGB3 ITGA2B FGB
6 11.92 ITGB3 ITGA2B ITGA2 GP1BA CD36
7
Show member pathways
11.84 ITGB3 ITGA2B ITGA2
8
Show member pathways
11.82 VWF ITGB3 ITGA2B GP1BA FGB
9 11.79 ITGB3 ITGA2B ITGA2 GP1BA CD36
10 11.79 VWF ITGB3 ITGA2B ITGA2 GP6 GP1BA
11 11.77 ITGB3 ITGA2B ITGA2
12
Show member pathways
11.75 VWF ITGB3 ITGA2B ITGA2 GP6 GP1BA
13 11.68 VWF ITGB3 F3
14 11.65 ITGB3 ITGA2B ITGA2
15 11.44 ITGB3 ITGA2B ITGA2
16 11.44 ITGB3 ITGA2B ITGA2
17 10.9 ITGB3 ITGA2B
18 10.87 VWF ITGB3 ITGA2B ITGA2 GP6 FGB
19 10.78 VWF ITGA2 GP6 GP1BA
20 10.54 VWF GP1BA

GO Terms for Von Willebrand Disease, Type 2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 IGFBP7 GP1BA FGB F8 F7 F3
2 external side of plasma membrane GO:0009897 9.8 ITGA2B ITGA2 FGB CD36
3 endoplasmic reticulum lumen GO:0005788 9.76 IGFBP7 F8 F7 ADAMTS13
4 collagen-containing extracellular matrix GO:0062023 9.73 VWF IGFBP7 FGB F3
5 platelet alpha granule lumen GO:0031093 9.5 VWF FGB F8
6 platelet alpha granule GO:0031091 9.48 VWF FGB
7 integrin complex GO:0008305 9.43 ITGB3 ITGA2B ITGA2
8 cell surface GO:0009986 9.28 ITGB3 ITGA2B ITGA2 GP6 GP1BA FGB
9 serine-type peptidase complex GO:1905286 9.16 F7 F3
10 platelet alpha granule membrane GO:0031092 9.13 ITGB3 ITGA2B CD36
11 plasma membrane GO:0005886 10.18 ZAN ITGB3 ITGA2B ITGA2 GP6 GP1BA
12 extracellular region GO:0005576 10.11 VWF IGFBP7 FGB F8 F7 F3

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.98 VWF ITGB3 ITGA2B ITGA2 IGFBP7 GP1BA
2 extracellular matrix organization GO:0030198 9.89 VWF ITGB3 ITGA2B ITGA2 FGB
3 integrin-mediated signaling pathway GO:0007229 9.81 ITGB3 ITGA2B ITGA2 ADAMTS13
4 response to organic cyclic compound GO:0014070 9.79 ITGA2 IGFBP7 F7
5 platelet degranulation GO:0002576 9.73 VWF ITGB3 ITGA2B FGB F8 CD36
6 protein processing GO:0016485 9.72 F7 F3 ADAMTS13
7 cell-matrix adhesion GO:0007160 9.72 ITGB3 ITGA2B ITGA2 FGB ADAMTS13
8 platelet activation GO:0030168 9.7 VWF ITGB3 GP6 GP1BA FGB F8
9 platelet aggregation GO:0070527 9.67 ITGB3 ITGA2B GP1BA FGB
10 cell-substrate adhesion GO:0031589 9.65 VWF ITGB3 ITGA2
11 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF GP1BA F8
12 fibrinolysis GO:0042730 9.62 GP1BA FGB
13 cell adhesion mediated by integrin GO:0033627 9.62 ITGB3 ITGA2
14 apoptotic cell clearance GO:0043277 9.61 ITGB3 CD36
15 positive regulation of leukocyte migration GO:0002687 9.6 ITGA2B ITGA2
16 positive regulation of blood coagulation GO:0030194 9.59 F7 CD36
17 mesodermal cell differentiation GO:0048333 9.58 ITGB3 ITGA2
18 response to amine GO:0014075 9.58 ITGA2 ADAMTS13
19 positive regulation of positive chemotaxis GO:0050927 9.58 ITGA2 F7 F3
20 positive regulation of phagocytosis, engulfment GO:0060100 9.57 ITGA2 CD36
21 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.56 CD36 ATAT1
22 hemostasis GO:0007599 9.56 VWF GP6 GP1BA FGB F8 F7
23 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.54 F7 F3
24 blood coagulation, extrinsic pathway GO:0007598 9.52 F7 F3
25 blood coagulation GO:0007596 9.36 VWF ITGB3 ITGA2 GP6 GP1BA FGB

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.54 VWF IGFBP7 FGB
2 protease binding GO:0002020 9.5 VWF ITGB3 F3
3 collagen binding GO:0005518 9.43 VWF ITGA2 GP6
4 fibrinogen binding GO:0070051 8.96 ITGB3 ITGA2B
5 integrin binding GO:0005178 8.92 VWF ITGB3 ITGA2 ADAMTS13
6 protein binding GO:0005515 10.06 VWF SSB ITGB3 ITGA2B ITGA2 IGFBP7

Sources for Von Willebrand Disease, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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