Glanzmann Thrombasthenia

Description

Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

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

Doctors, researchs, and experts related to Glanzmann Thrombasthenia extracted from public data.

Glanzmann Thrombasthenia Experts map



Current Researchs and researchers

  • PARIS — Dr Thierry LEBLANC

    Coordinator of expert centre - Clinical expert - Investigator of research project - Contact person of registry

    • Institution/s:
      — Pôle de pédiatrie médicale, CHU Paris - Hôpital Robert Debré
      — CHU Paris - Hôpital Robert Debré
      — CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
    • Research area/topic::

      Constitutive hematologic diseases: clinical and therapeutic research, molecular biology


  • VILLENEUVE D'ASCQ CEDEX — Dr Caroline DESOMBRE

    Investigator of research project

    • Institution/s:
      — Univ Lille Nord de France Université de Lille 3
    • Research area/topic::

      Students affected by hemophilia and other family-related hemorrhagic diseases: how to restore equal opportunities at school


  • GREIFSWALD — Pr Ute FELBOR

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Universitätsmedizin Greifswald
      — Institut für Humangenetik der Universitätsmedizin Greifswald
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia


  • GREIFSWALD — Dr Matthias RATH

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia


  • GREIFSWALD — Dr Winnie SCHRÖDER

    Responsible for diagnostic tests - Investigator of research project - Contact person of registry

    • Institution/s:
      — Institut für Humangenetik der Universitätsmedizin Greifswald
    • Research area/topic::

      Mutational spectra and clinical manifestation in patients with congenital haemophilia



Mendelian

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Glanzmann Thrombasthenia 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 %
ITGA2B. Complete sequencing.

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

ITGA2B
Specificity
100 %
Genes
50 %
Glanzmann thrombasthenia (sequence analysis of ITGA2B gene).

By CGC Genetics (Portugal).

ITGA2B
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.

ORPHANET Genetic Syndrome Finder

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