Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
Definition
The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes.
Also known as hereditary thrombocytopenia and hematologic cancer predisposition syndrome — per MONDO