Isolated delta-storage pool disease

Get in touch with RARE Concierge.

Contact RARE Concierge

Isolated delta-storage pool disease

Synonyms: Isolated delta-SPD | Isolated dense-SPD | Isolated dense-storage pool disease

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

Newly diagnosed with
Isolated delta-storage pool disease?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

National Center of Hematology and Blood Transfusion

Treatment of patients with blood diseases,scientific-research works

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

For a list of clinical trials in this disease area, please click here.