Gray Platelet Syndrome

Common Name(s)

Gray Platelet Syndrome

Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gray Platelet Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gray Platelet Syndrome" returned 30 free, full-text research articles on human participants. First 3 results:

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome.
 

Author(s): Anne Rensing-Ehl, Ulrich Pannicke, Stefanie-Yvonne Zimmermann, Myriam Ricarda Lorenz, Benedicte Neven, Ilka Fuchs, Ulrich Salzer, Carsten Speckmann, Anne Strauss, Eberhard Maaβ, Benedicte Collet, Anselm Enders, Remi Favier, Marie Christine Alessi, Frederic Rieux-Laucat, Barbara Zieger, Klaus Schwarz, Stephan Ehl

Journal: Blood. 2015 Oct;126(16):1967-9.

 

Last Updated: 16 Oct 2015

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Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice.
 

Author(s): Jose A Guerrero, Cavan Bennett, Louise van der Weyden, Harriet McKinney, Melody Chin, Paquita Nurden, Zoe McIntyre, Emma L Cambridge, Jeanne Estabel, Hannah Wardle-Jones, Anneliese O Speak, Wendy N Erber, Augusto Rendon, Willem H Ouwehand, Cedric Ghevaert

Journal: Blood. 2014 Dec;124(24):3624-35.

 

NBEAL2 encodes a multidomain scaffolding protein with a putative role in granule ontogeny in human platelets. Mutations in NBEAL2 underlie gray platelet syndrome (GPS), a rare inherited bleeding disorder characterized by a lack of α-granules within blood platelets and progressive ...

Last Updated: 5 Dec 2014

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A dominant-negative GFI1B mutation in the gray platelet syndrome.
 

Author(s): Davide Monteferrario, Nikhita A Bolar, Anna E Marneth, Konnie M Hebeda, Saskia M Bergevoet, Hans Veenstra, Britta A P Laros-van Gorkom, Marius A MacKenzie, Cyrus Khandanpour, Lacramiora Botezatu, Erik Fransen, Guy Van Camp, Anthonie L Duijnhouwer, Simone Salemink, Brigith Willemsen, Gerwin Huls, Frank Preijers, Waander Van Heerde, Joop H Jansen, Marlies J E Kempers, Bart L Loeys, Lut Van Laer, Bert A Van der Reijden

Journal: N. Engl. J. Med.. 2014 Jan;370(3):245-53.

 

The gray platelet syndrome is a hereditary, usually autosomal recessive bleeding disorder caused by a deficiency of alpha granules in platelets. We detected a nonsense mutation in the gene encoding the transcription factor GFI1B (growth factor independent 1B) that causes autosomal ...

Last Updated: 16 Jan 2014

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Reviews from the PubMed Database

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The terms "Gray Platelet Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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