/hereditary thrombocytopenia and hematologic cancer predisposition syndrome

hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Rare Disease

MONDO:0011071

Also Known As

hereditary thrombocytopenia and hematologic cancer predisposition syndromefamilial platelet syndrome with predisposition to acute myelogenous leukaemiafamilial thrombocytopenia with propensity to acute myelogenous leukaemiathrombocytopenia, familial, with propensity to acute myelogenous leukaemia

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.