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 34 free, full-text research articles on human participants. First 3 results:

Gray platelet syndrome: Novel mutations of the NBEAL2 gene.
 

Author(s): Roberta Bottega, Elena Nicchia, Caterina Alfano, Ana C Glembotsky, Annalisa Pastore, Debora Bertaggia-Calderara, Bettina Bisig, Michel A Duchosal, Guillermo Arbesú, Lorenzo Alberio, Paula G Heller, Anna Savoia

Journal: Am. J. Hematol.. 2017 02;92(2):E20-E22.

 

Last Updated: 31 Dec 1969

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Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients.
 

Author(s): Christian A Di Buduo, Maria Adele Alberelli, Ana C Glembostky, Gianmarco Podda, Paola R Lev, Marco Cattaneo, Raffaele Landolfi, Paula G Heller, Alessandra Balduini, Erica De Candia

Journal:

 

The Gray Platelet Syndrome (GPS) is a rare inherited bleeding disorder characterized by deficiency of platelet α-granules, macrothrombocytopenia and marrow fibrosis. The autosomal recessive form of GPS is linked to loss of function mutations in NBEAL2, which is predicted to regulate ...

Last Updated: 31 Dec 1969

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Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice.
 

Author(s): Kärt Tomberg, Rami Khoriaty, Randal J Westrick, Heather E Fairfield, Laura G Reinholdt, Gary L Brodsky, Pavel Davizon-Castillo, David Ginsburg, Jorge Di Paola

Journal:

 

During the analysis of a whole genome ENU mutagenesis screen for thrombosis modifiers, a spontaneous 8 base pair (bp) deletion causing a frameshift in exon 27 of the Nbeal2 gene was identified. Though initially considered as a plausible thrombosis modifier, this Nbeal2 mutation failed ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gray Platelet Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
 

Author(s): Alan T Nurden, Paquita Nurden

Journal: Am. J. Hematol.. 2016 07;91(7):714-8.

 

There is much current interest in the role of the platelet storage pool of α-granule proteins both in hemostasis and non-hemostatic events. As well as in the arrest of bleeding, the secreted proteins participate in wound healing, inflammation, and innate immunity while in pathology ...

Last Updated: 31 Dec 1969

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