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Isolated delta-storage pool disease

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.

ORPHA:248340

  • Synonym(s):
    • Isolated delta-SPD
    • Isolated dense-SPD
    • Isolated dense-storage pool disease
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: D69.1
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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