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ENCystinosis, Nephropathic (CTNS)
Alias:
Cystinosis, Atypical Nephropathic
Nephropathic Cystinosis
Ctns
Lysosomal Cystine Transport Protein, Defect of
Defect of Lysosomal Cystine Transport Protein
Cystinosis Infantile Nephropathic
Cystinosis Atypical Nephropathic
Cystinosis, Nephropathic Type
Cystinosin, Defect of
Defect of Cystinosin
Fanconi Syndrome
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Cystinosis, Nephropathic, also known as cystinosis, atypical nephropathic, is related to cystinosis, late-onset juvenile or adolescent nephropathic type and cystinosis, and has symptoms including polyuria, polydipsia and photophobia. An important gene associated with Cystinosis, Nephropathic is CTNS (Cystinosin, Lysosomal Cystine Transporter). The drugs Plerixafor and Metformin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are global developmental delay and proteinuria
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MALACARDS
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