A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion resulting in increased bleeding tendency. Clinical manifestations are easy bruising gum bleeding menorrhagia spontaneous epistaxis spontaneous muscle hematoma and potential postpartum hemorrhage among others.
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://www.orphadata.org. Data version September 2024
Newly diagnosed with
Autosomal dominant thrombocytopenia with platelet secretion defect?
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Advocacy Organizations
Save One Life, Inc
Empowering individuals and families affected by bleeding disorders in developing countries through direct financial assistance and access to medical treatment.
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Clinical Trials
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