Cystinosis

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, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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

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