Renal Aminoacidurias [Disease/Finding] Cystinuria [Disease/Finding] D003555 Cystinuria 1024925 M0005557 An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1. 85020001 C0010691 Cystinuria C1964 N0000000893