Sphingosine-1-phosphate lyase insufficiency syndrome (SPLIS; nephrotic syndrome, type 14; NPHS14; MIM 617575), a multi-systemic disorder of sphingolipid metabolism first described in 2017, is caused by variants in SGPL1, in which primary adrenal insufficiency (PAI) and steroid-resistant nephrotic syndrome (SRNS) necessitating renal transplantation predominate (1, 2, 3, 4). Here, SGPL1 is linked to nephrotic syndrome 14.