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Other Names for this Disease
- Cystine diathesis
- Cystine disease
- Cystine storage disease
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.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
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- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
- The Cystinosis Research Foundation Web site provides information on cystinosis. Click on the link above to view for further information on this topic.
- Cystinosis Research Network provides information about cystinosis symptoms and treatment.
- Genetics Home Reference (GHR) contains information on Cystinosis. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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.
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.