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

41 clinical trials for this condition and its sub-types, 1 tagged with Hereditary thrombocytopenia and hematologic cancer predisposition syndrome itself.

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↑ Hereditary neoplastic syndrome (731) ↑ Inherited blood coagulation disorder (323)

Sub-types of Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Including sub-types (41) Tagged with Hereditary thrombocytopenia and hematologic cancer predisposition syndrome (1)

Trials to join now! 1

Scientists track rare gene variant to unlock blood disorder mysteries

Knowledge-focused Recruiting now

This study follows people of all ages who have or may have a RUNX1 gene variant, which can cause bleeding problems and increase the risk of blood cancers. Researchers will collect medical history, blood samples, and bone marrow over many years to understand how the condition deve…

Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

Last updated Sep 13, 2026 00:00 UTC

Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

Where it sits in the disease tree

Scientists track rare gene variant to unlock blood disorder mysteries