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.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
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.