Bleeding Disorder, Platelet-type, 21; Bdplt21

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by Saultier et al., 2017).For a discussion of genetic heterogeneity of platelet-type bleeding disorders, see BDPLT1 (OMIM ).

Genes related to Bleeding Disorder, Platelet-type, 21; Bdplt21

FLI1

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Bleeding Disorder, Platelet-type, 21; Bdplt21

Thrombocytopenia
Alopecia
Eczema
Psoriasiform dermatitis
Menorrhagia
Recurrent viral infections
Impaired platelet aggregation
Macrothrombocytopenia

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.

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.

Bleeding Disorder, Platelet-type, 21; Bdplt21 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A 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 Panel complete gene list CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A 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 Panel complete gene list RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, ANO6, ANKRD26, NBEAL2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, LMAN1, MPL, MYH9, P2RX1, SERPINE1, PLAU, SERPINF2, PRKACG Specificity 2 % Genes 100 %
Paris-Trousseau Thrombocytopenia via FLI1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). FLI1 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 Panel complete gene list RUNX1, WAS, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CD36, MASTL, CYCS, ANKRD26, NBEAL2, ETV6, MECOM, FLI1, FLNA, FYB1, GATA1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A 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 Panel complete gene list RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA, HOXA11, AP3B1, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %
Thrombocytopenia Deletion / Duplication 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 Panel complete gene list RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA, HOXA11, AP3B1, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %
Thrombocytopenia Comprehensive 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 Panel complete gene list RUNX1, SMPD1, SRC, TBXAS1, WAS, WIPF1, ADAMTS13, TUBB1, MASTL, LYST, CYCS, ANKRD26, NBEAL2, SLFN14, ETV6, MECOM, FLI1, FYB1, GATA1, GBA, HOXA11, AP3B1, ITGA2B, ITGB3, MPL, MYH9, PRKACG, RBM8A Specificity 4 % Genes 100 %

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Sources and references

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