Abnormalities within PI-PLCβ1 and the PI3K/Akt/mTOR pathway have been linked to myelodysplastic syndrome (MDS), a pathological condition characterized by hematopoietic stem cell mutations, amongst which 30% of MDS patients were found to progress to acute myeloid leukemia (AML) [56]. The gene discussed is AKT1; the disease is myelodysplastic syndrome.