Reni Syndrome (RENI)

Reni Syndrome, also known as sphingosine phosphate lyase insufficiency syndrome, is related to ichthyosis and familial steroid-resistant nephrotic syndrome with adrenal insufficiency. An important gene associated with Reni Syndrome is SGPL1 (Sphingosine-1-Phosphate Lyase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Racepinephrine and Epinephryl borate have been mentioned in the context of this disorder. Affiliated tissues include kidney and testis, and related phenotypes are hypothyroidism and hyperpigmentation of the skin