Quebec platelet disorder

Preferred Label : Quebec platelet disorder;

Symbol : QPD;

CISMeF acronym : BDPLT5; QPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bleeding disorder, platelet-type, 5; BDPLT5; Factor V quebec;

Description : Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by tandem duplication of the urinary plasminogen activator gene (PLAU, 191840.0002);

Prefixed ID : #601709;

Details

Origin ID

601709;

UMLS CUI

C1866423;

Automatic exact mappings (from CISMeF team)
- PLAU wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Quebec platelet disorder [DO Concept]
- Quebec platelet disorder [ICD-11 More detail]
- Quebec platelet disorder [MeSH concept]
- Quebec platelet disorder [ORDO Disease]
- quebec platelet disorder [MeSH Supplementary Concept]
DO Cross reference
- Quebec platelet disorder [DO Concept]
Genes related to phenotype
- Plasminogen activator, urinary [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Epistaxis [HPO term]
- Impaired epinephrine-induced platelet aggregation [HPO term]
- Joint hemorrhage [HPO term]
- Menorrhagia [HPO term]
- Mild thrombocytopenia [HPO term]
- Thrombocytopenia [HPO term]
Not associated HPO term(s)
- Abnormal platelet morphology [HPO term]
ORDO concept(s)
- Quebec platelet disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Quebec platelet disorder [ORDO Disease]
- Quebec platelet disorder [MeSH concept]
- Quebec platelet disorder [DO Concept]
- Quebec platelet disorder [ICD-11 More detail]
- quebec platelet disorder [MeSH Supplementary Concept]

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