Preferred Label : Von willebrand disease, platelet-type;
Symbol : VWDP;
CISMeF acronym : BDPLT3; VWDP;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Bleeding disorder, platelet-type, 3; BDPLT3; Pseudo-von willebrand disease;
Description : Platelet-type von Willebrand disease, also known as pseudo-von Willebrand disease,
is an autosomal dominant bleeding disorder characterized by abnormally enhanced binding
of von Willebrand factor by the platelet glycoprotein Ib (GP Ib) receptor complex.
Hemostatic function is impaired due to the removal of VWF multimers from the circulation
(Murata et al., 1993). Miller (1996) gave a comprehensive review of the disorder.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in glycoprotein 1b, platelet, alpha polypeptide (GP1BA, 606672.0003);
Laboratory abnormalities : Prolonged bleeding time; Increased platelet aggregation with ristocetin; Decreased high molecular weight plasma factor VIII/ vWF multimers;
Prefixed ID : #177820;
Origin ID : 177820;
UMLS CUI : C1280798;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT