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Autosomal dominant macrothrombocytopenia

Disease definition

This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.

ORPHA:140957

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: D69.4
  • OMIM: 187800  613112  615193
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

To date less than 10 cases are reported.

Clinical description

Autosomal dominant macrothrombocytopenia is caused by mutations in the integrin, beta 3 ITGB3, tubulin, beta-1TUBB1 and actinin, alpha1 ACTN1 genes. These mutations lead to abnormal proplatelets and thrombocytopenia.

Etiology

Transmission is autosomal dominant.

- Last update: May 2013

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