Bleeding Disorder, Platelet-type, 16; Bdplt16

Description

BDPLT16 is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Bleeding Disorder, Platelet-type, 16; Bdplt16

  • Anemia
  • Thrombocytopenia
  • Abnormal bleeding
  • Purpura
  • Petechiae
  • Prolonged bleeding time
  • Anisocytosis
  • Impaired platelet aggregation
  • Macrothrombocytopenia
  • Increased mean platelet volume

And another 2 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, 16; Bdplt16 Is also known as thrombasthenia of glanzmann and naegeli, autosomal dominant, glanzmann thrombasthenia, autosomal dominant.

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, 16; Bdplt16 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
4 %
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
5 %
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
5 %
Genes
100 %
Glanzmann thrombasthenia.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

ITGA2B, ITGB3
Specificity
100 %
Genes
100 %
Glanzmann thrombasthenia.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

ITGA2B, ITGB3
Specificity
100 %
Genes
100 %
ITGB3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ITGB3
Specificity
100 %
Genes
50 %
Fetal and neonatal alloimmune thrombocytopenia (sequence analysis of ITGB3 gene).

By CGC Genetics (Portugal).

ITGB3
Specificity
100 %
Genes
50 %
Glanzmann's thrombasthenia.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

ITGA2B, ITGB3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPASTIC PARAPLEGIA-PAGET DISEASE OF BONE SYNDROME MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE; MRXSBRK KEARNS-SAYRE SYNDROME; KSS BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13

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