SLC3A1 and cystinuria: Cystinuria (OMIM #220100) is an inherited autosomal recessive aminoaciduria due to pathogenic variants in the SLC3A1 (solute carrier family 3 member 1 OMIM #104614) or SLC7A9 (solute carrier family 7 member 9 OMIM # 604144) genes, encoding respectively for rBAT and b0, +AT.