Isolated delta-storage pool disease

Orpha code: 248340OMIM code:

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.

Disease data
Classification

Disease

Synonyms
Isolated delta-SPD
Choroba puli magazynowej-izolowany defekt ziarnistości gęstych
Izolowana delta-SPD
Isolated dense-SPD
Isolated dense-storage pool disease
ORPHA code
248340
OMIM code
-
ICD10 code
D69.1
ICD11 code
3B62.3

No additional description.

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