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Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

MONDO:0100083

This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.

Also known as: FPD/AML syndrome, FPS/AML syndrome, Familial Platelet Disorder with Associated Myeloid Malignancy, familial platelet disorder with associated myeloid malignancy, familial platelet syndrome with predisposition to acute myelogenous leukaemia, familial platelet syndrome with predisposition to acute myelogenous leukemia, hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, FPDMM

41 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Inherited disease susceptibility (79) Hereditary neoplastic syndrome (59) Blood coagulation disease (53) Syndromic disease (25) Human disease (14) Inherited blood coagulation disorder (8) Neoplastic disease or syndrome (7)
Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 11 Completed 7
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