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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
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.
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