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Autosomal dominant macrothrombocytopenia

Orpha number ORPHA140957
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • D69.4
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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

To date less than 10 cases are reported.

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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