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platelet-type bleeding disorder 16

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.

Synonyms

  • BDPLT16
  • Glanzmann thrombasthenia, autosomal dominant
  • autosomal dominant Glanzmann thrombasthenia
  • autosomal dominant thrombasthenia of Glanzmann and Naegeli
  • bleeding disorder, platelet-type, 16
  • bleeding disorder, platelet-type, 16, autosomal dominant
  • platelet-type bleeding disorder 16
  • thrombasthenia of Glanzmann and Naegeli, autosomal dominant
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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