DISEASES

Disease-gene associations mined from literature

Human genes for Quebec platelet disorder

Quebec platelet disorder [DOID:0111050]

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.

Synonyms:  Quebec platelet disorder,  DOID:0111050,  Quebec platelet disease,  Quebec platelet syndrome,  Quebec platelet disorders ...