platelet-type bleeding disorder 19

A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in t

A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21.

Signs and symptoms

• Abnormal bleeding
• Menorrhagia
• Macrothrombocytopenia
• Epistaxis
• Thrombocytopenia
• Anemia
• Spontaneous hematomas

Also known as: BDPLT19; severe autosomal recessive macrothrombocytopenia