Synonyms

• nephropathic cystinosis
• intermediate cystinosis
• non-nephropathic cystinosis

Disorder Subdivisions

• nephropathic cystinosis
• intermediate cystinosis
• non-nephropathic cystinosis

General Discussion

Cystinosis is a rare genetic disorder characterized by the impaired transport of the amino acid cystine out of parts of cells called lysosomes in many organs of the body including the kidneys, eyes, liver, muscles, pancreas, brain and white blood cells. Lysosomes are membrane bound particles within cells that aid in the breakdown of cellular substances, some of which are harmful. Cystine crystallizes in these cells and slowly destroys the organs. Cystinosis is inherited as an autosomal recessive genetic condition

Resources

Vaincre Les Maladies Lysosomales
2 Ter Avenue
Massy, 91300
France
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
Email: accueil@vml-asso.org
Internet: http://www.vml-asso.org

Cystinosis Foundation, Inc.
1212 Broadway
Suite 830
Oakland, CA 94612
Fax: (559)222-7997
Tel: (800)392-8458
Email: jean.cystinosis@sbcglobal.net
Internet: http://www.cystinosisfoundation.org

NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
TDD: (866)569-1162
Email: nkudic@info.niddk.nih.gov
Internet: http://www.kidney.niddk.nih.gov/

Cystinosis Research Network
302 Whytegate Court
Lake Forest, IL 60045
USA
Tel: (847)735-0471
Fax: (847)235-2773
Tel: (866)276-3669
Email: info@cystinosis.org
Internet: http://www.cystinosis.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/17/2007
Copyright  1986, 1987, 1988, 1990, 1991, 1993, 1994, 1995, 1997, 1998, 1999, 2007 National Organization for Rare Disorders, Inc.