Bleeding Disorder, Platelet-type, 15; Bdplt15

Description

Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013).

Clinical Features

Phenotypes and symptoms related to Bleeding Disorder, Platelet-type, 15; Bdplt15

  • Thrombocytopenia
  • Abnormal bleeding
  • Epistaxis
  • Anisocytosis
  • Increased mean platelet volume
  • 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.

Alternative names

Bleeding Disorder, Platelet-type, 15; Bdplt15 Is also known as macrothrombocytopenia, autosomal dominant, actn1-related.

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, 15; Bdplt15 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
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 %
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 %
Platelet bleeding disorders Comprehensive 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 %
Bleeding disorder, platelet-type 15.

By Centogene AG - the Rare Disease Company (Germany).

ACTN1
Specificity
100 %
Genes
100 %

You can get up to 7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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