HPMRS-1 is currently also known as GPIBD2 or PIGV-congenital disorder of glycosylation (PIGV-CDG), due to its difference in terms of phenotype from the typical clinical image of GPIBDs which derives from its alterations of alkalic phosphatase (ALP) activity and consecutive hyperphosphatemia. Here, PIGV is linked to congenital disorder of glycosylation.