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1.

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia (and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis). [from GeneReviews]

MedGen UID:
321945
Concept ID:
C1832388
Disease or Syndrome
2.

Abnormal alpha granule content

A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. [from HPO]

MedGen UID:
868469
Concept ID:
C4022863
Anatomical Abnormality

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