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Autosomal dominant macrothrombocytopenia

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset -
  • D69.4
MeSH -
MedDRA -


Disease definition

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


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.


Transmission is autosomal dominant.

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Detailed information

Clinical practice guidelines
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