Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 22-03-2020
Symbol THC5
Location 12p13.2
Name thrombocytopenia 5
Corresponding gene ETV6
Main clinical features
  • characterized by a decreased number of platelets and a bleeding tendency
  • affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms
  • onset in infancy
  • Genetic determination autosomal dominant
    Function/system disorder hematology
    Type disease