Cystinosis

Cystinosis, also known as cystine storage disease, is related to cystinosis, adult nonnephropathic and cystinosis, nephropathic, and has symptoms including polyuria, polydipsia and photophobia. An important gene associated with Cystinosis is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways are Metabolism of steroids and Metabolic disorders of biological oxidation enzymes. The drugs Cysteine and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include kidney and thyroid, and related phenotypes are failure to thrive and hypothyroidism