Von willebrand disease, type 2

Preferred Label : Von willebrand disease, type 2;

Symbol : VWD2;

CISMeF acronym : VWD2A; VWD2B; VWD2; VWD2M; VWD2N;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Von willebrand disease, type II; Vwd, type 2;

Included titles and symbols : Von willebrand disease, type 2a; Von willebrand disease, type 2b; Von willebrand disease, type 2m; Von willebrand disease, type 2n; VWD2A; VWD2B; VWD2M; VWD2N;

Description : 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).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the von Willebrand factor gene (VWF, 613160.0001);

Laboratory abnormalities : Decreased levels of plasma factor VIII in patients with type 2N;

Prefixed ID : #613554;

Details

Origin ID

613554;

UMLS CUI

C1264040;

Automatic exact mappings (from CISMeF team)
- Hereditary von Willebrand disease type 2N (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2 [ICD-11 More detail]
- Von Willebrand disease type 2A [ICD-11 More detail]
- Von Willebrand disease type 2B [ICD-11 More detail]
- Von Willebrand disease type 2M [ICD-11 More detail]
- Von Willebrand disease type 2M [ORDO Disease]
- Von Willebrand disease type 2N [ICD-11 More detail]
- Von Willebrand disease type 2N [ORDO Disease]
- von Willebrand Disease, Type 2B [NCIt concept]
- von Willebrand Disease, Type 2M [NCIt concept]
- von Willebrand Disease, Type 2N [NCIt concept]
- von Willebrand disease type 2B (disorder) [SNOMED CT concept]
- von Willebrand disease type 2M (disorder) [SNOMED CT concept]
- von Willebrand's disease 2 [DO Concept]
- von willebrand disease, type 2B [MeSH concept]
- von willebrand disease, type 2M [MeSH concept]
- von willebrand disease, type 2N [MeSH concept]
Currated CISMeF NLP mapping
- Hereditary von Willebrand disease type 2 (disorder) [SNOMED CT concept]
- Hereditary von Willebrand disease type 2A (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2 [ORDO Disease]
- Von Willebrand disease type 2A [ORDO Disease]
- von Willebrand Disease, Type 2A [NCIt concept]
- von Willebrand disease type 2A (disorder) [SNOMED CT concept]
- von Willebrand disease, type IIA (disorder) [SNOMED CT concept]
- von willebrand disease, type 2 [MeSH Descriptor]
- von willebrand disease, type 2 [MeSH concept]
- von willebrand disease, type 2A [MeSH concept]
- von willebrand disease, type iia [SNOMED Notion]
DO Cross reference
- von Willebrand's disease 2 [DO Concept]
Genes related to phenotype
- Von willebrand factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Menorrhagia [HPO term]
- Thrombocytopenia [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Von Willebrand disease [ORDO Disease]
- Von Willebrand disease type 2 [ORDO Disease]
- Von Willebrand disease type 2A [ORDO Disease]
- Von Willebrand disease type 2B [ORDO Disease]
- Von Willebrand disease type 2M [ORDO Disease]
- Von Willebrand disease type 2N [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital von Willebrand's disease type II (disorder) [SNOMED CT concept]
- Hereditary von Willebrand disease type 2 (disorder) [SNOMED CT concept]
- Von Willebrand disease type 2 [ORDO Disease]
- von Willebrand's disease 2 [DO Concept]
- von willebrand disease, type 2 [MeSH Descriptor]
- von willebrand disease, type 2 [MeSH concept]
Validated automatic mappings to BTNT
- Von Willebrand disease type 2B [ORDO Disease]

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