Von willebrand disease, type 3

Preferred Label : Von willebrand disease, type 3;

Symbol : VWD3;

CISMeF acronym : VWD3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Von willebrand disease, type III; Vwd, type 3;

Description : Von Willebrand disease is a bleeding disorder resulting from a defect in platelet aggregation due to defects in the von Willebrand factor protein. Type 3 von Willebrand disease, which is inherited as an autosomal recessive disorder, is associated with a severe quantitative defect or virtual absence of VWF in plasma, a prolonged bleeding time, and more severe bleeding tendencies compared to the other types of VWD. Type 3 accounts for about 1% of patients with VWD. Bleeding usually starts in infancy and can include epistaxis, recurrent mucocutaneous bleeding, bleeding after surgery, and hemarthroses. Since VWF also serves as a carrier protein for coagulation factor VIII (F8; 300841), affected individuals also have very low levels of plasma F8, resembling hemophilia A (306700) (summary by Zhang et al., 1992, 1993; reviews by Sadler et al., 2006 and Lillicrap, 2009). For a general description and a classification of the types of von Willebrand disease, see VWD type 1 (193400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the von Willebrand factor gene (VWF, 613160.0015);

Laboratory abnormalities : Severely decreased antigen levels of VWF and factor VIII;

Prefixed ID : #277480;

Details

Origin ID

277480;

UMLS CUI

C1264041;

Automatic exact mappings (from CISMeF team)
- Von Willebrand disease type 3 [ICD-11 More detail]
- von Willebrand's disease 3 [DO Concept]
- von willebrand disease, type is/iii [SNOMED Notion]
Broader ORDO disease(s)
- Von Willebrand disease [ORDO Disease]
DO Cross reference
- von Willebrand's disease 3 [DO Concept]
Genes related to phenotype
- Von willebrand factor [OMIM gene]
HPO term(s)
- Abnormal bleeding [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Hemarthroses [HPO term]
- Impaired platelet aggregation [HPO term]
- Joint hemorrhage [HPO term]
- Menorrhagia [HPO term]
- Persistent bleeding after trauma [HPO term]
- Prolonged bleeding after surgery [HPO term]
- Prolonged bleeding time [HPO term]
- Reduced factor VIII activity [HPO term]
- Reduced von Willebrand factor activity [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Von Willebrand disease [ORDO Disease]
- Von Willebrand disease type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital von Willebrand's disease type III (disorder) [SNOMED CT concept]
- Hereditary von Willebrand disease type 3 (disorder) [SNOMED CT concept]
- Von Willebrand disease type 3 [ORDO Disease]
- von Willebrand Disease, Type 3 [NCIt concept]
- von Willebrand's disease 3 [DO Concept]
- von willebrand disease, type 3 [MeSH Descriptor]
- von willebrand disease, type 3 [MeSH concept]

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