Isolated delta-storage pool disease

Definition

Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.

Also known as isolated delta-SPD, isolated dense-SPD, isolated dense-storage pool disease — per MONDO

Also identified as

• Orphanet 248340 per MONDO