platelet-type bleeding disorder 20

A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutati

A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12.

Signs and symptoms

• Thrombocytopenia
• Menorrhagia
• Bruising susceptibility
• Epistaxis

Also known as: BDPLT20; autosomal dominant thrombocytopenia with platelet secretion defect