platelet-type bleeding disorder 18

A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome

A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.

Signs and symptoms

• Menorrhagia
• Prolonged bleeding time
• Prolonged bleeding after dental extraction
• Bruising susceptibility
• Impaired epinephrine-induced platelet aggregation
• Epistaxis
• Impaired ADP-induced platelet aggregation

Also known as: BDPLT18; bleeding disorder due to CalDAG-GEFI deficiency; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency