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Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Cystine diathesis
  • Cystine disease
  • Cystine storage disease
  • Cystinoses
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Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.[1]
Last updated: 11/11/2011


  1. Cystinosis. Genetics Home Reference . February 2008; Accessed 11/11/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Cystinosis. We will answer your question and update these pages with new resources and information.

Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of cystinosis. Click on the links below to go to OMIM and review these resources.
    Nephropathic cystinosis
    Adult non-nephropathic cystinosis
    Late-onset nephropathic cystinosis
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cystinosis. Click on the link to view a sample search on this topic.