VWD2
MCID: VNW010
MIFTS: 50

Von Willebrand Disease, Type 2 (VWD2)

Categories: Blood diseases, Cardiovascular 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 39 70
Von Willebrand Disease Type 2m 58 72 29 6 70
Von Willebrand Disease Type 2n 58 72 29 6
Von Willebrand Disease Type 2 12 58 29 6
Von Willebrand Disease, Type 2a 29 6 70
Von Willebrand Disease, Type 2b 29 6 70
Vwd2 57 12 72
Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 57 13
Von Willebrand Disease Type Ii 12 72
Von Willebrand Disease Type 2a 58 72
Von Willebrand Disease Type 2b 58 72
Von Willebrand's Disease 2 12 15
Von Willebrand Disease Normandy Variant 72
Von Willebrand Factor Deficiency Type 2 72
Von Willebrand Disease Type I New York 72
Von Willebrand Disease Type 2 Malmo 72
Von Willebrand Disease, Type Ii 57
Von Willebrand Disease, Type 2n 70
Von Willebrand Disease 2 72
Vwd, Type 2 57
Vwd Type 2 12
Vwd2a 72
Vwd2b 72
Vwd2m 72
Vwd2n 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
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:

31
von willebrand disease, type 2:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0060574
OMIM® 57 613554
MeSH 44 D056728
SNOMED-CT 67 128107007
MESH via Orphanet 45 D056728
ICD10 via Orphanet 33 D68.0
UMLS via Orphanet 71 C1264040 C1282968 C1282971 more
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Von Willebrand Disease, Type 2, also known as von willebrand disease type 2m, is related to pseudo-von willebrand disease and hemophilia a. An important gene associated with Von Willebrand Disease, Type 2 is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Platelet Adhesion to exposed collagen. The drug Deamino Arginine Vasopressin has been mentioned in the context of this disorder. Affiliated tissues include liver, thyroid and breast, 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 : 72 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 71)
# Related Disease Score Top Affiliating Genes
1 pseudo-von willebrand disease 32.1 VWF SIGLEC5 GP1BA
2 hemophilia a 30.4 VWF F8
3 hemophilia b 30.3 VWF F8
4 thrombocytopenia 30.2 VWF GP1BA F8 ADAMTS13
5 factor viii deficiency 30.2 VWF SIGLEC5 F8
6 thrombotic thrombocytopenic purpura 30.1 VWF ADAMTS13
7 purpura 30.1 VWF GP1BA ADAMTS13
8 von willebrand's disease 30.0 VWF SIGLEC5 GP1BA F8 ADAMTS13
9 angiodysplasia 29.5 VWF SIGLEC5 F8 ADAMTS13
10 von willebrand disease, type 1 29.5 ZAN VWF SIGLEC5 NAT16 GP1BA F8
11 hemophilia 10.2
12 fainting 10.2 VWF F8
13 pediatric angiosarcoma 10.2 VWF F8
14 breast hemangioma 10.2 VWF F8
15 thyroid angiosarcoma 10.2 VWF F8
16 lymphangiosarcoma 10.2 VWF F8
17 pain agnosia 10.2
18 hepatitis c 10.2
19 liver cirrhosis 10.2
20 acquired hemophilia 10.2
21 hemarthrosis 10.2 VWF F8
22 brachydactyly, type d 10.2 VWF F8
23 thrombophlebitis 10.2 VWF F8
24 factor v deficiency 10.2 VWF F8
25 central retinal vein occlusion 10.2 VWF F8
26 factor xiii deficiency 10.2 VWF F8
27 thrombophilia due to activated protein c resistance 10.2 VWF F8
28 pulmonary artery disease 10.2 VWF F8
29 endocardium disease 10.2 VWF SIGLEC5
30 factor xi deficiency 10.2 VWF F8
31 vein disease 10.2 VWF F8
32 carotid artery thrombosis 10.2 VWF GP1BA
33 arthus reaction 10.2
34 thrombocytopenia due to platelet alloimmunization 10.2
35 rare hemorrhagic disorder 10.2
36 thrombocytosis 10.1
37 coronary thrombosis 10.1 VWF GP1BA
38 limb ischemia 10.1 VWF SIGLEC5
39 thrombophilia due to thrombin defect 10.1 VWF F8
40 afibrinogenemia, congenital 10.1 VWF F8
41 human immunodeficiency virus type 1 10.1
42 hepatitis 10.1
43 intracranial thrombosis 10.0 VWF GP1BA F8
44 vascular disease 10.0 VWF GP1BA F8
45 glanzmann thrombasthenia 1 10.0 VWF GP1BA F8
46 pulmonary embolism 10.0 VWF GP1BA F8
47 bernard-soulier syndrome 10.0 VWF GP1BA F8
48 thrombotic microangiopathy 10.0 VWF ADAMTS13
49 colorectal cancer 5 10.0 VWF ADAMTS13
50 bombay phenotype 10.0 VWF ADAMTS13

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:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 epistaxis 31 HP:0000421
3 bruising susceptibility 31 HP:0000978
4 menorrhagia 31 HP:0000132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Von Willebrand Disease, Type 2

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deamino Arginine Vasopressin Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
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

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 2b 29
3 Von Willebrand Disease Type 2n 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:

40
Liver, Thyroid, Breast

Publications for Von Willebrand Disease, Type 2

Articles related to Von Willebrand Disease, Type 2:

(show top 50) (show all 129)
# 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. 6 57
20351307 2010
2
The genetic basis of von Willebrand disease. 6 57
20409624 2010
3
Characterization of W1745C and S1783A: 2 novel mutations causing defective collagen binding in the A3 domain of von Willebrand factor. 6 57
19687512 2009
4
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. 6 57
19060241 2009
5
Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. 57 6
16889557 2006
6
Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. 6 57
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. 6 57
12588351 2003
8
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A. 57 6
12406074 2002
9
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease. 6 57
8622978 1996
10
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC. 57 6
7789955 1995
11
von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure. 57 6
8486782 1993
12
Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden. 6 57
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. 57 6
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. 57 6
1729889 1992
15
An Arg545----Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease. 6 57
1761120 1991
16
Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A. 57 6
1906179 1991
17
The "Normandy" variant of von Willebrand disease: characterization of a point mutation in the von Willebrand factor gene. 6 57
2018834 1991
18
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). 6 57
1673047 1991
19
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 6 57
1672694 1991
20
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 57 6
2010538 1991
21
Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor. 57 6
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. 57 6
2104761 1990
23
IIB von Willebrand's disease: pathogenetic and therapeutic studies. 6 57
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. 57 6
3259690 1988
25
von Willebrand's disease characterized by increased ristocetin sensitivity and the presence of all von Willebrand factor multimers in plasma. 6 57
3488775 1986
26
Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS). 6 57
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. 57 6
6773982 1980
28
Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease. 57 6
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. 57 61
10669167 2000
30
New families with von Willebrand disease type 2M (Vicenza). 61 57
9253800 1997
31
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
32
Genetic variants of VWF gene in type 2 von Willebrand disease. 6
30817071 2019
33
Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project. 6
29924855 2018
34
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. 6
28971901 2017
35
Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test. 6
27443694 2017
36
Abnormal von Willebrand factor secretion, factor VIII stabilization and thrombus dynamics in type 2N von Willebrand disease mice. 6
28581694 2017
37
Type 2B von Willebrand Disease: An Unusual Cause of Severe Neonatal Thrombocytopenia. 6
28060120 2017
38
Use of a thrombopoietin receptor agonist in von Willebrand disease type 2B (p.V1316M) with severe thrombocytopenia and intracranial hemorrhage. 6
27885890 2017
39
Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism. 6
27317792 2016
40
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture. 6
26986123 2016
41
The co-influence of VWD type 2B/2M mutations in the A1 domain and platelet GPIb╬▒ on the rate of cleavage to VWF by ADAMTS13. 6
26345337 2015
42
Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype. 6
26207643 2015
43
Misfolding of vWF to pathologically disordered conformations impacts the severity of von Willebrand disease. 6
25185554 2014
44
von Willebrand factor, Jedi knight of the bloodstream. 6
24928861 2014
45
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease. 6
24712919 2014
46
The type 2B p.R1306W natural mutation of von Willebrand factor dramatically enhances the multimer sensitivity to shear stress. 6
23819767 2013
47
Collagen binding provides a sensitive screen for variant von Willebrand disease. 6
23340442 2013
48
Characterisation of mutations and molecular studies of type 2 von Willebrand disease. 6
23179108 2013
49
A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy. 6
22875612 2013
50
Pregnancy in type 2B VWD: a case series. 6
22077376 2012

Variations for Von Willebrand Disease, Type 2

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

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VWF NM_000552.4(VWF):c.4820T>A (p.Val1607Asp) SNV Pathogenic 286 rs61750579 GRCh37: 12:6127764-6127764
GRCh38: 12:6018598-6018598
2 VWF NM_000552.4(VWF):c.3939G>C (p.Trp1313Cys) SNV Pathogenic 287 rs61749392 GRCh37: 12:6128645-6128645
GRCh38: 12:6019479-6019479
3 VWF NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln) SNV Pathogenic 291 rs61749403 GRCh37: 12:6128562-6128562
GRCh38: 12:6019396-6019396
4 VWF NM_000552.4(VWF):c.4837T>C (p.Ser1613Pro) SNV Pathogenic 292 rs61750581 GRCh37: 12:6127747-6127747
GRCh38: 12:6018581-6018581
5 VWF NM_000552.4(VWF):c.3814T>C (p.Cys1272Arg) SNV Pathogenic 301 rs61749372 GRCh37: 12:6128770-6128770
GRCh38: 12:6019604-6019604
6 VWF NM_000552.4(VWF):c.3940G>C (p.Val1314Leu) SNV Pathogenic 302 rs61749393 GRCh37: 12:6128644-6128644
GRCh38: 12:6019478-6019478
7 VWF NM_000552.4(VWF):c.4541T>G (p.Phe1514Cys) SNV Pathogenic 304 rs61750101 GRCh37: 12:6128043-6128043
GRCh38: 12:6018877-6018877
8 VWF NM_000552.4(VWF):c.1648G>A (p.Gly550Arg) SNV Pathogenic 305 rs61754011 GRCh37: 12:6167096-6167096
GRCh38: 12:6057930-6057930
9 VWF NM_000552.4(VWF):c.8317T>C (p.Cys2773Arg) SNV Pathogenic 306 rs61751310 GRCh37: 12:6058306-6058306
GRCh38: 12:5949140-5949140
10 VWF VWF, 6-BP INS, NT1212 Insertion Pathogenic 307 GRCh37:
GRCh38:
11 VWF NM_000552.4(VWF):c.1583A>G (p.Asn528Ser) SNV Pathogenic 318 rs61754010 GRCh37: 12:6167161-6167161
GRCh38: 12:6057995-6057995
12 VWF VWF, TRP1745CYS Variation Pathogenic 31010 GRCh37:
GRCh38:
13 VWF NM_000552.4(VWF):c.5347T>G (p.Ser1783Ala) SNV Pathogenic 31012 rs267607353 GRCh37: 12:6125363-6125363
GRCh38: 12:6016197-6016197
14 VWF NM_000552.4(VWF):c.3538G>A (p.Gly1180Arg) SNV Pathogenic 100268 rs267607332 GRCh37: 12:6131906-6131906
GRCh38: 12:6022740-6022740
15 VWF NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) SNV Pathogenic 288 rs61749384 GRCh37: 12:6128668-6128668
GRCh38: 12:6019502-6019502
16 VWF NM_000552.4(VWF):c.2372C>T (p.Thr791Met) SNV Pathogenic 294 rs61748477 GRCh37: 12:6153527-6153527
GRCh38: 12:6044361-6044361
17 VWF NM_000552.4(VWF):c.2446C>T (p.Arg816Trp) SNV Pathogenic 295 rs121964894 GRCh37: 12:6145654-6145654
GRCh38: 12:6036488-6036488
18 VWF NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser) SNV Pathogenic 300 rs61749398 GRCh37: 12:6128614-6128614
GRCh38: 12:6019448-6019448
19 VWF NM_000552.4(VWF):c.3854C>T (p.Ser1285Phe) SNV Pathogenic 311 rs61749380 GRCh37: 12:6128730-6128730
GRCh38: 12:6019564-6019564
20 VWF NM_000552.4(VWF):c.2384A>G (p.Tyr795Cys) SNV Pathogenic 312 rs61748478 GRCh37: 12:6153515-6153515
GRCh38: 12:6044349-6044349
21 VWF NM_000552.4(VWF):c.2411G>T (p.Cys804Phe) SNV Pathogenic 313 rs62643630 GRCh37: 12:6153488-6153488
GRCh38: 12:6044322-6044322
22 VWF NM_000552.4(VWF):c.1071C>A (p.Tyr357Ter) SNV Pathogenic 316 rs61754002 GRCh37: 12:6181535-6181535
GRCh38: 12:6072369-6072369
23 VWF NM_000552.4(VWF):c.3178T>C (p.Cys1060Arg) SNV Pathogenic 317 rs61748497 GRCh37: 12:6134790-6134790
GRCh38: 12:6025624-6025624
24 VWF NM_000552.4(VWF):c.4213_4215AAG[3] (p.Lys1408del) Microsatellite Pathogenic 100340 rs61750078 GRCh37: 12:6128360-6128362
GRCh38: 12:6019194-6019196
25 VWF NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) SNV Pathogenic 285 rs61750117 GRCh37: 12:6127795-6127795
GRCh38: 12:6018629-6018629
26 VWF NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) SNV Pathogenic 289 rs61749387 GRCh37: 12:6128662-6128662
GRCh38: 12:6019496-6019496
27 VWF NM_000552.4(VWF):c.4121G>A (p.Arg1374His) SNV Pathogenic 100330 rs61750072 GRCh37: 12:6128463-6128463
GRCh38: 12:6019297-6019297
28 VWF NM_000552.4(VWF):c.4121G>A (p.Arg1374His) SNV Pathogenic 100330 rs61750072 GRCh37: 12:6128463-6128463
GRCh38: 12:6019297-6019297
29 VWF NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr) SNV Pathogenic 284 rs61750584 GRCh37: 12:6127701-6127701
GRCh38: 12:6018535-6018535
30 VWF NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) SNV Pathogenic 288 rs61749384 GRCh37: 12:6128668-6128668
GRCh38: 12:6019502-6019502
31 VWF NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys) SNV Pathogenic 31009 rs267607326 GRCh37: 12:6132007-6132007
GRCh38: 12:6022841-6022841
32 VWF NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) SNV Pathogenic 314 rs61749370 GRCh37: 12:6128787-6128787
GRCh38: 12:6019621-6019621
33 VWF NM_000552.4(VWF):c.3946G>A (p.Val1316Met) SNV Pathogenic 290 rs61749397 GRCh37: 12:6128638-6128638
GRCh38: 12:6019472-6019472
34 VWF NM_000552.4(VWF):c.3946G>A (p.Val1316Met) SNV Pathogenic 290 rs61749397 GRCh37: 12:6128638-6128638
GRCh38: 12:6019472-6019472
35 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
36 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
37 VWF NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) SNV Pathogenic 296 rs41276738 GRCh37: 12:6143978-6143978
GRCh38: 12:6034812-6034812
38 VWF NM_000552.5(VWF):c.7770+1G>T SNV Pathogenic 931248 GRCh37: 12:6077292-6077292
GRCh38: 12:5968126-5968126
39 VWF NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) SNV Likely pathogenic 314 rs61749370 GRCh37: 12:6128787-6128787
GRCh38: 12:6019621-6019621
40 VWF NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) SNV Likely pathogenic 310 rs1800386 GRCh37: 12:6127833-6127833
GRCh38: 12:6018667-6018667
41 VWF NM_000552.4(VWF):c.4637T>G (p.Val1546Gly) SNV Likely pathogenic 627314 rs1591862366 GRCh37: 12:6127947-6127947
GRCh38: 12:6018781-6018781
42 VWF NM_000552.4(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer) Deletion Likely pathogenic 627315 rs1591862342 GRCh37: 12:6127933-6127935
GRCh38: 12:6018767-6018769
43 VWF NM_000552.4(VWF):c.3569G>A (p.Cys1190Tyr) SNV Likely pathogenic 626960 rs1591865026 GRCh37: 12:6131171-6131171
GRCh38: 12:6022005-6022005
44 VWF NM_000552.4(VWF):c.3962A>G (p.Tyr1321Cys) SNV Likely pathogenic 627057 rs1591863294 GRCh37: 12:6128622-6128622
GRCh38: 12:6019456-6019456
45 VWF NM_000552.4(VWF):c.4360G>A (p.Val1454Ile) SNV Uncertain significance 627070 rs533417176 GRCh37: 12:6128224-6128224
GRCh38: 12:6019058-6019058
46 VWF NM_000552.4(VWF):c.3842T>C (p.Leu1281Pro) SNV Uncertain significance 627206 rs1591863438 GRCh37: 12:6128742-6128742
GRCh38: 12:6019576-6019576
47 VWF NM_000552.5(VWF):c.2442+1G>A SNV Uncertain significance 931546 GRCh37: 12:6153456-6153456
GRCh38: 12:6044290-6044290
48 VWF NM_000552.4(VWF):c.7940C>T (p.Thr2647Met) SNV Uncertain significance 100487 rs61751302 GRCh37: 12:6062708-6062708
GRCh38: 12:5953542-5953542
49 VWF NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) SNV Uncertain significance 381621 rs141649383 GRCh37: 12:6167119-6167119
GRCh38: 12:6057953-6057953
50 VWF NM_000552.4(VWF):c.1922C>T (p.Ala641Val) SNV Uncertain significance 100196 rs61754019 GRCh37: 12:6166046-6166046
GRCh38: 12:6056880-6056880

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

72 (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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 VWF GP1BA F8
2 10.07 VWF GP1BA
3 9.62 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 ZAN VWF GP1BA FCGBP F8 ADAMTS13
2 platelet alpha granule lumen GO:0031093 9.16 VWF F8
3 extracellular matrix GO:0031012 9.02 ZAN VWF GP1BA FCGBP ADAMTS13

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

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.62 ZAN VWF SIGLEC5 GP1BA
2 blood coagulation GO:0007596 9.56 VWF GP1BA F8 ADAMTS13
3 platelet activation GO:0030168 9.46 VWF GP1BA F8 ADAMTS13
4 blood coagulation, intrinsic pathway GO:0007597 9.13 VWF GP1BA F8
5 hemostasis GO:0007599 8.92 VWF GP1BA F8 ADAMTS13

Sources for Von Willebrand Disease, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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