Schematic of the PI3K signalling pathway which regulates vital cellular processes such as growth and survival. PTEN is the master controller of this pathway and keeps it in check. Circled in green are the genes of this pathway which when mutated cause rare diseases. PHTS is caused due to mutations in PTEN, Tuberous Sclerosis due to mutations in mTOR and APDS, PROS and SHORT syndome are all caused due to mutations in the PI3K genes.

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