Gray Platelet Syndrome; Gps

Description

The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency, moderate thrombocytopenia, and a marked decrease or absence of platelet alpha-granules and of the proteins contained in alpha-granules. The platelets are enlarged, but not giant, and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. Many patients with gray platelet syndrome develop a stable myelofibrosis (summary by Nurden and Nurden, 2007).Cases suggesting autosomal dominant and autosomal recessive inheritance have been described, indicating that GPS is probably a genetically heterogeneous disorder with more than one molecular cause.

Clinical Features

Top most frequent phenotypes and symptoms related to Gray Platelet Syndrome; Gps

  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Skin rash
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding
  • Gastrointestinal hemorrhage
  • Epistaxis
  • Purpura

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Gray Platelet Syndrome; Gps Is also known as bleeding disorder, platelet-type, 4, bdplt4, platelet alpha-granule deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Gray Platelet Syndrome; Gps Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Thrombocytopenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Thrombocytopenia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Gray Platelet Syndrome via NBEAL2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

NBEAL2
Specificity
100 %
Genes
100 %
Thrombocytopenia Sequencing Panel with CNV Detection - Expanded.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Thrombocytopenia NGS Panel.

By Connective Tissue Gene Tests (United States).

RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Platelet bleeding disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SMPD1, TBXA2R, TBXAS1, VWF, WAS, WIPF1, GP6, HPS3, HPS4, ACTN1, CD36, HPS5, DTNBP1, P2RY12, HPS6, LYST, BLOC1S3, ANO6, NBEAL2, SLFN14 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

We have 9 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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