Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. The disease is MONDO_0016239 (cystinosis). Also known as: Protein defect of cystin transport, cystine storage disease.