Von Willebrand disease type 2B

General Information (adopted from Orphanet):

Synonyms, Signs: VWD2M, INCLUDED
VON WILLEBRAND DISEASE, TYPE 2B, INCLUDED
VWD2N, INCLUDED
VON WILLEBRAND DISEASE, TYPE 2N, INCLUDED
VWD, TYPE 2 VON WILLEBRAND DISEASE, TYPE 2A, INCLUDED
VON WILLEBRAND DISEASE, TYPE II
VON WILLEBRAND DISEASE, TYPE 2M, INCLUDED
VWD2B, INCLUDED
VWD2A, INCLUDED
VWD2
Number of Symptoms 8
OrphanetNr: 166087
OMIM Id: 613554
ICD-10: D68.0
UMLs: C1282971
MeSH:
MedDRA:
Snomed: 19520006
359717002
359721009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Von Willebrand disease type 2
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0000978) Bruising susceptibility 123 / 7739
4
(OMIM) Prolonged bleeding due to a qualitative defect in the VWF protein 5 / 7739
5
(OMIM) Patients with type 2B develop thrombocytopenia 5 / 7739
6
(OMIM) Mucocutaneous bleeding 7 / 7739
7
(OMIM) Defect in platelet aggregation 6 / 7739
8
(OMIM) Decreased levels of plasma factor VIII in patients with type 2N 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Von Willebrand disease type 2, like VWD type 1, is characterized by excessive mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery (Mannucci, 2004). The delineation of different subtypes of VWD type 2 does not ...
Molecular genetics OMIM - Von Willebrand Disease Type 2A

Mutations causing the enhanced proteolysis phenotype lie within or near domain A2 (exon 28) of the VWF gene, which is the site of the ADAMTS13 (604134) cleavage sequence between residues ...