Bleeding Disorder, Platelet-type, 17; Bdplt17

Description

Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Bleeding Disorder, Platelet-type, 17; Bdplt17

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility
  • Abnormal bleeding
  • Gastrointestinal hemorrhage
  • Epistaxis
  • Heterotopia
  • Purpura

And another 14 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

Bleeding Disorder, Platelet-type, 17; Bdplt17 Is also known as thrombasthenia-thrombocytopenia, hereditary.

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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Bleeding Disorder, Platelet-type, 17; Bdplt17 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 %
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 via GFI1B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GFI1B
Specificity
100 %
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 %
Platelet bleeding disorders Deletion / Duplication 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 %

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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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