Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

MONDO:0011071

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, familial platelet syndrome with predisposition to acute myelogenous leukaemia, familial thrombocytopenia with propensity to acute myelogenous leukaemia, thrombocytopenia, familial, with propensity to acute myelogenous leukaemia

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