Other Names for this Disease
- Cystinosin, defect of
- Lysosomal cystine transport protein, defect of
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mutations in the CTNS gene and inherited in an autosomal recessive pattern.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
Last updated: 11/11/2011
- Cystinosis. Genetics Home Reference . February 2008; http://ghr.nlm.nih.gov/condition=cystinosis. Accessed 11/11/2011.
- Genetics Home Reference (GHR) contains information on Nephropathic cystinosis. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a 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.