Isolated delta-storage pool disease
ORPHA:248340· ICD-10 D69.1
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.
- Inheritance
- Autosomal dominant, Autosomal recessive