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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Nephropathic cystinosis


Other Names for this Disease

  • CTNS
  • Cystinosin, defect of
  • Lysosomal cystine transport protein, defect of
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Overview

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

References

  1. Cystinosis. Genetics Home Reference . February 2008; http://ghr.nlm.nih.gov/condition=cystinosis. Accessed 11/11/2011.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nephropathic cystinosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CTNS
  • Cystinosin, defect of
  • Lysosomal cystine transport protein, defect of
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.