Bleeding disorder due to CalDAG-GEFI deficiency

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Bleeding disorder due to CalDAG-GEFI deficiency

Synonyms: Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency

Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age) presenting with prolonged and severe epistaxis hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.

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.

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Bleeding disorder due to CalDAG-GEFI deficiency?

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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

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