VWD2
MCID: VNW006
MIFTS: 42

Von Willebrand Disease, Types 2a, 2b, 2m, and 2n (VWD2) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

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

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

Name: Von Willebrand Disease, Types 2a, 2b, 2m, and 2n 54 13
Von Willebrand Disease Type 2m 56 66 29 69
Von Willebrand Disease, Type 2 54 42 69
Von Willebrand Disease Type 2a 56 66 29
Von Willebrand Disease Type 2b 56 66 29
Von Willebrand Disease Type 2n 56 66 29
Von Willebrand Disease Type Ii 12 66
Von Willebrand Disease Type 2 12 56
Von Willebrand's Disease 2 12 14
Von Willebrand Disease 2 66 29
Vwd2 12 66
Von Willebrand Disease Normandy Variant 66
Von Willebrand Factor Deficiency Type 2 66
Von Willebrand Disease Type I New York 66
Von Willebrand Disease Type 2 Malmo 66
Von Willebrand Disease, Type 2a 69
Von Willebrand Disease, Type 2b 69
Von Willebrand Disease, Type 2n 69
Vwd Type 2 12
Vwd2a 66
Vwd2b 66
Vwd2m 66
Vwd2n 66

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
von willebrand disease, types 2a, 2b, 2m, and 2n:
Inheritance autosomal recessive inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 613554
Disease Ontology 12 DOID:0060574
MeSH 42 D056728
ICD10 via Orphanet 34 D68.0
UMLS via Orphanet 70 C1282968 C1264040 C1282974 more
MESH via Orphanet 43 D056728
UMLS 69 C1264040

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

OMIM : 54 Von Willebrand disease is the most common inherited bleeding disorder. It is characterized clinically by mucocutaneous... (613554) more...

MalaCards based summary : Von Willebrand Disease, Types 2a, 2b, 2m, and 2n, also known as von willebrand disease type 2m, is related to type 2m von willebrand disease and type 2n von willebrand disease, and has symptoms including epistaxis, bruising susceptibility and menorrhagia. An important gene associated with Von Willebrand Disease, Types 2a, 2b, 2m, and 2n is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. The drugs Simvastatin and Metformin have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 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.

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.

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

Graphical network of the top 20 diseases related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n:



Diseases related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n

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

Symptoms by clinical synopsis from OMIM:

613554

Clinical features from OMIM:

613554

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

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

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

Drugs for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 4 79902-63-9 54454
2
Metformin Approved Phase 4,Phase 3 657-24-9 14219 4091
3
Insulin Aspart Approved Phase 4 116094-23-6 16132418
4
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
5 Anticholesteremic Agents Phase 4
6 Antimetabolites Phase 4
7 Atorvastatin Calcium Phase 4 134523-03-8
8 Calcium, Dietary Phase 4,Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
10 Hypolipidemic Agents Phase 4
11 Lipid Regulating Agents Phase 4
12 Arginine Vasopressin Phase 4,Phase 2
13 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
14 Deamino Arginine Vasopressin Phase 4,Phase 2
15 Hemostatics Phase 4,Phase 3,Phase 2
16 Natriuretic Agents Phase 4,Phase 2
17 Vasopressins Phase 4,Phase 2
18 Hypoglycemic Agents Phase 4,Phase 3
19 insulin Phase 4
20 Insulin, Globin Zinc Phase 4
21 Biphasic Insulins Phase 4
22 Insulin aspart, insulin aspart protamine drug combination 30:70 Phase 4
23 Insulin, Isophane Phase 4
24 Protamines Phase 4
25 Factor VIII Phase 4,Phase 2,Phase 1
26 arginine Nutraceutical Phase 4,Phase 2
27
Liraglutide Approved Phase 3 204656-20-2
28
Glimepiride Approved Phase 3 93479-97-1 3476
29
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
30
Tranexamic Acid Approved Phase 3 1197-18-8 5526
31 Dipeptidyl-Peptidase IV Inhibitors Phase 3
32 HIV Protease Inhibitors Phase 3
33 Hormone Antagonists Phase 3,Phase 2
34 Hormones Phase 3,Phase 2
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
36 Incretins Phase 3
37
protease inhibitors Phase 3
38 Sitagliptin Phosphate Phase 3
39 Anti-Arrhythmia Agents Phase 3
40 Immunosuppressive Agents Phase 3
41 Antifibrinolytic Agents Phase 3
42
Oprelvekin Approved, Investigational Phase 2 145941-26-0
43
Tamoxifen Approved Phase 2 10540-29-1 2733526
44
Afimoxifene Investigational Phase 2 68392-35-8
45 Anticoagulants Phase 2
46 Antineoplastic Agents, Hormonal Phase 2
47 Bone Density Conservation Agents Phase 2
48 Chelating Agents Phase 2
49 Estrogen Antagonists Phase 2
50 Estrogen Receptor Modulators Phase 2

Interventional clinical trials:

(show all 25)
id Name Status NCT ID Phase
1 Oxidative Stress Lowering Effect of Simvastatin and Atorvastatin. Unknown status NCT00404599 Phase 4
2 Severe Aortic Stenosis and Acquired Von Willebrand´s Disease: The Impact of Desmopressin in Valve-Replacement Surgery Completed NCT01994330 Phase 4
3 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4
4 Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes Mellitus Completed NCT01865474 Phase 4
5 Effect of Repaglinide Versus Metformin Treatment in Non-Obese Patients With Type-2-Diabetes Completed NCT00118963 Phase 4
6 Efficacy of Alphanate FVIII/VWF Concentrate in Type 3 Von Willebrand Patients Recruiting NCT00555555 Phase 4
7 The Effect of Liraglutide Compared to Sitagliptin, Both in Combination With Metformin on Glycaemic Control in Subjects With Type 2 Diabetes Mellitus Completed NCT00700817 Phase 3
8 Efficacy of Pioglitazone/Metformin Combination Therapy in Subjects With Type 2 Diabetes Mellitus and Dyslipidemia. Completed NCT00770653 Phase 3
9 Minimize Menorrhagia in Women With Type 1 Von Willebrand Disease Not yet recruiting NCT02606045 Phase 3
10 ARC1779 Injection in Patients With Von Willebrand Factor-Related Platelet Function Disorders Completed NCT00632242 Phase 2
11 IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia Completed NCT00524342 Phase 2
12 A Study to Compare the Pharmacokinetics and Safety of Optivate® and Haemate P® in Patients With Von Willebrand Disease. Completed NCT02250508 Phase 2
13 Phase II Study of IL-11 (Neumega) in Von Willebrand Disease Completed NCT00151125 Phase 2
14 Tamoxifen Citrate or Afimoxifene in Treating Patients With Estrogen Receptor Positive Breast Cancer Not yet recruiting NCT02993159 Phase 2
15 IL-11 in Adults With Von Willebrand Disease Undergoing Surgery Terminated NCT00524225 Phase 2
16 A Study of the Pharmacokinetics, Pharmacodynamics, and Safety of ARC1779 Injection in Patients With Von Willebrand Disease Type 2B Withdrawn NCT00694785 Phase 2
17 Pharmacokinetic, Safety and Tolerability Study of Recombinant Von Willebrand Factor / Recombinant Factor VIII Complex in Type 3 Von Willebrand Disease Completed NCT00816660 Phase 1
18 Phase 1 Dose Escalation, Single Dose Study to Assess Safety and Pharmacokinetics of BAX930 in Hereditary Thrombotic Thrombocytopenic Purpura (TTP) Completed NCT02216084 Phase 1
19 A Study of Hypoxia-inducible Factor 1a (HIF1A) Messenger Ribonucleic Acid (mRNA) Antagonist (RO7070179), to Demonstrate Proof-of-mechanism in Adult Participants With Hepatocellular Carcinoma (HCC) Recruiting NCT02564614 Phase 1
20 The Effect of Folic Acid Administration in the Progression of Microalbuminuria Completed NCT00737126
21 SIT LESS 3: The Effect of Low Intensity Physical Activity on Insulin Sensitivity, Mood and Cognitive Performance Completed NCT02394249
22 Gingival Bleeding and Von Willebrand Disease Typ 2 and 3 Recruiting NCT03078595
23 Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome) Recruiting NCT01257269
24 Frequency of Hemorrhages Associated With the Functional Anomalies of Willebrand Factor in Emergency Patients Not yet recruiting NCT03070912
25 International Immune Tolerance Study Terminated NCT00212472

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

Cochrane evidence based reviews: von willebrand disease, type 2

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

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

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

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

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

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

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

66 (show all 36)
id 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, Types 2a, 2b, 2m, and 2n:

6 (show all 28)
id 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.4789C> T (p.Arg1597Trp) single nucleotide variant Pathogenic rs61750117 GRCh37 Chromosome 12, 6127795: 6127795
3 VWF NM_000552.4(VWF): c.4820T> A (p.Val1607Asp) single nucleotide variant Pathogenic rs61750579 GRCh37 Chromosome 12, 6127764: 6127764
4 VWF NM_000552.4(VWF): c.3939G> C (p.Trp1313Cys) single nucleotide variant Pathogenic rs61749392 GRCh37 Chromosome 12, 6128645: 6128645
5 VWF NM_000552.4(VWF): c.3916C> T (p.Arg1306Trp) single nucleotide variant Pathogenic rs61749384 GRCh37 Chromosome 12, 6128668: 6128668
6 VWF NM_000552.4(VWF): c.3922C> T (p.Arg1308Cys) single nucleotide variant Pathogenic rs61749387 GRCh37 Chromosome 12, 6128662: 6128662
7 VWF NM_000552.4(VWF): c.3946G> A (p.Val1316Met) single nucleotide variant Pathogenic rs61749397 GRCh37 Chromosome 12, 6128638: 6128638
8 VWF NM_000552.4(VWF): c.4022G> A (p.Arg1341Gln) single nucleotide variant Pathogenic rs61749403 GRCh37 Chromosome 12, 6128562: 6128562
9 VWF NM_000552.4(VWF): c.4837T> C (p.Ser1613Pro) single nucleotide variant Pathogenic rs61750581 GRCh37 Chromosome 12, 6127747: 6127747
10 VWF NM_000552.4(VWF): c.2372C> T (p.Thr791Met) single nucleotide variant Pathogenic rs61748477 GRCh37 Chromosome 12, 6153527: 6153527
11 VWF NM_000552.4(VWF): c.2446C> T (p.Arg816Trp) single nucleotide variant Pathogenic rs121964894 GRCh37 Chromosome 12, 6145654: 6145654
12 VWF NM_000552.4(VWF): c.2561G> A (p.Arg854Gln) single nucleotide variant Pathogenic rs41276738 GRCh37 Chromosome 12, 6143978: 6143978
13 VWF NM_000552.4(VWF): c.3970G> A (p.Gly1324Ser) single nucleotide variant Pathogenic rs61749398 GRCh37 Chromosome 12, 6128614: 6128614
14 VWF NM_000552.4(VWF): c.3814T> C (p.Cys1272Arg) single nucleotide variant Pathogenic rs61749372 GRCh37 Chromosome 12, 6128770: 6128770
15 VWF NM_000552.4(VWF): c.3940G> C (p.Val1314Leu) single nucleotide variant Pathogenic rs61749393 GRCh37 Chromosome 12, 6128644: 6128644
16 VWF NM_000552.4(VWF): c.4541T> G (p.Phe1514Cys) single nucleotide variant Pathogenic rs61750101 GRCh37 Chromosome 12, 6128043: 6128043
17 VWF NM_000552.4(VWF): c.1648G> A (p.Gly550Arg) single nucleotide variant Pathogenic rs61754011 GRCh37 Chromosome 12, 6167096: 6167096
18 VWF NM_000552.4(VWF): c.8317T> C (p.Cys2773Arg) single nucleotide variant Pathogenic rs61751310 GRCh37 Chromosome 12, 6058306: 6058306
19 VWF VWF, 6-BP INS, NT1212 insertion Pathogenic
20 VWF NM_000552.4(VWF): c.3854C> T (p.Ser1285Phe) single nucleotide variant Pathogenic rs61749380 GRCh37 Chromosome 12, 6128730: 6128730
21 VWF NM_000552.4(VWF): c.2384A> G (p.Tyr795Cys) single nucleotide variant Pathogenic rs61748478 GRCh37 Chromosome 12, 6153515: 6153515
22 VWF NM_000552.4(VWF): c.2411G> T (p.Cys804Phe) single nucleotide variant Pathogenic rs62643630 GRCh37 Chromosome 12, 6153488: 6153488
23 VWF NM_000552.4(VWF): c.1071C> A (p.Tyr357Ter) single nucleotide variant Pathogenic rs61754002 GRCh37 Chromosome 12, 6181535: 6181535
24 VWF NM_000552.4(VWF): c.3178T> C (p.Cys1060Arg) single nucleotide variant Pathogenic rs61748497 GRCh37 Chromosome 12, 6134790: 6134790
25 VWF NM_000552.4(VWF): c.1583A> G (p.Asn528Ser) single nucleotide variant Pathogenic rs61754010 GRCh37 Chromosome 12, 6167161: 6167161
26 VWF NM_000552.4(VWF): c.3437A> G (p.Tyr1146Cys) single nucleotide variant Pathogenic rs267607326 GRCh37 Chromosome 12, 6132007: 6132007
27 VWF VWF, TRP1745CYS undetermined variant Pathogenic
28 VWF NM_000552.4(VWF): c.5347T> G (p.Ser1783Ala) single nucleotide variant Pathogenic rs267607353 GRCh37 Chromosome 12, 6125363: 6125363

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

Search GEO for disease gene expression data for Von Willebrand Disease, Types 2a, 2b, 2m, and 2n.

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

Pathways related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 F7 VWF
2 10.77 F7 VWF

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

Biological processes related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 8.96 F7 VWF
2 hemostasis GO:0007599 8.62 F7 VWF

Molecular functions related to Von Willebrand Disease, Types 2a, 2b, 2m, and 2n according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glycoprotein binding GO:0001948 8.62 F7 VWF

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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65 SNOMED-CT via Orphanet
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