Cystinosis

About the Disease
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 Clock-controlled autophagy in bone metabolism. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include kidney, thyroid and eye, and related phenotypes are failure to thrive and hypothyroidism

Common Targets
CTNS | TGM2

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