Familial Platelet Disorder with Associated Myeloid Malignancy

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the RUNX1 gene, encoding runt-related transcription factor 1. It is characterized by thrombocytopenia, abnormal platelet function, and a propensity to develop acute myeloid leukemia.

**Synonyms:** - FPD/AML - FPDMM - Familial Platelet Disorder and AML Syndrome