Quebec platelet disorder

Term ID

DOID:0111050

Synonyms

• BDPLT5
• factor V Quebec
• platelet-type bleeding disorder 5

Definition

A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degredation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. (2)

References

• GARD:8345
• MESH:C536260
• OMIM:601709
• ORDO:220436
• UMLS_CUI:C1866423

Ontology

Human Disease   ( DOID:0111050 )