Von willebrand disease, platelet-type

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;

Détails

Origin ID

177820;

UMLS CUI

C1280798;

Automatic exact mappings (from CISMeF team)
- GP1BA wt Allele [NCIt concept]
- Pseudo-Von Willebrand disease [ICD-11 More detail]
- platelet-type bleeding disorder 3 [DO Concept]
Currated CISMeF NLP mapping
- Platelet type pseudo-von Willebrand disease (disorder) [SNOMED CT concept]
- Platelet type von Willebrand's disease (disorder) [SNOMED CT concept]
- Platelet-Type von Willebrand Disease [NCIt concept]
- Pseudo von Willebrand disease (disorder) [SNOMED CT concept]
- Pseudo-von Willebrand disease [ORDO Disease]
- Von Willebrand disease, platelet type [MeSH concept]
- von willebrand disease, platelet type [MeSH Supplementary Concept]
- von willebrand disease, platelet type [SNOMED Notion]
DO Cross reference
- platelet-type bleeding disorder 3 [DO Concept]
Genes related to phenotype
- Glycoprotein ib, platelet, alpha polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Intermittent thrombocytopenia [HPO term]
- Prolonged bleeding time [HPO term]
ORDO concept(s)
- Pseudo-von Willebrand disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Platelet type pseudo-von Willebrand disease (disorder) [SNOMED CT concept]
- Platelet type von Willebrand's disease (disorder) [SNOMED CT concept]
- Platelet-Type von Willebrand Disease [NCIt concept]
- Pseudo von Willebrand disease (disorder) [SNOMED CT concept]
- Pseudo-von Willebrand disease [ORDO Disease]
- Von Willebrand disease, platelet type [MeSH concept]
- von willebrand disease, platelet type [MeSH Supplementary Concept]
- von willebrand disease, platelet type [SNOMED Notion]
Validated automatic mappings to NTBT
- von Willebrand disorder (disorder) [SNOMED CT concept]

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