Cystinosis
Synonyms: Protein defect of cystin transport
A rare lysosomal 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Cystinosis?
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Advocacy Organizations
Cystinosis Research Network
The Cystinosis Research Network is an all-volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis.
Clinical Trials
For a list of clinical trials in this disease area, please click here.