Disease

Infantile Nephropathic Cystinosis

About the Disease
Fanconi Syndrome, also known as infantile nephropathic cystinosis, is related to fanconi renotubular syndrome 1 and dent disease 1. An important gene associated with Fanconi Syndrome is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone marrow and bone, and related phenotypes are failure to thrive and constipation

Common Targets
CTNS | TGM2

疾病靶点研报
Infantile nephropathic cystinosis

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