hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
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.
MONDO:0011071
hereditary thrombocytopenia and hematologic cancer predisposition syndrome
is_a
FPD/AML syndrome
exact
FPDMM
related
FPS/AML syndrome
exact
Familial Platelet Disorder with Associated Myeloid Malignancy
exact
asprin-like platelet disorder
related
familial platelet disorder with associated myeloid malignancy
exact
familial platelet syndrome with predisposition to acute myelogenous leukaemia
exact
familial platelet syndrome with predisposition to acute myelogenous leukemia
exact
familial thrombocytopenia with propensity to acute myelogenous leukaemia
related
familial thrombocytopenia with propensity to acute myelogenous leukemia
related
hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
exact
platelet disorder, aspirin-like
related
platelet disorder, familial, with associated myeloid malignancy
related
thrombocytopenia, familial, with propensity to acute myelogenous leukaemia
related
thrombocytopenia, familial, with propensity to acute myelogenous leukemia
related