PIK3CA-Related Overgrowth Spectrum

PROS (PIK3CA-related overgrowth spectrum) is a broad-ranging spectrum of disorders caused by PIK3CA mutations, which can result in hyperactivation of the PI3K pathway.1-3

Watch the video below to learn more about the mechanism of disease.

Acronyms: PIK3CA = phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; PROS = PIK3CA-related overgrowth spectrum.

References: 1. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. Am J Med Genet A. 2014;167A:287-295. 2. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al. Am J Med Genet Part A. 2014;1713-1733. 3. Madsen RR, Vanhaesebroeck B, Semple RK. Trends Mol Med. 2018;24(10):856-870.