Synonyms

• Cystine Storage Disease
• Fanconi II
• Lignac-Fanconi Syndrome
• nephropathic cystinosis
• intermediate cystinosis
• non-nephropathic cystinosis

Disorder Subdivisions

• Infantile Cystinosis
• Juvenile Cystinosis
• Nephropathic Cystinosis
• Nephrotic-Glycosuric-Dwarfism-Rickets-Hypophosphatemic Syndrome
• de Toni-Fanconi Syndrome
• Intermediate Cystinosis
• Dwarfism with Rickets
• Adolescent Cystinosis
• Lignac-Debre-Fanconi Syndrome
• Benign Cystinosis
• Infantile Fanconi Syndrome with Cystinosis
• Aminoaciduria-Osteomalacia-Hyperphosphaturia Syndrome
• Abderhalden-Kaufmann-Lignac Syndrome
• Adult 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

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
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

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Cystinosis Foundation, Inc.
604 Vernon St
Oakland, CA 94610
Fax: (559)222-7997
Tel: (800)392-8458
Email: jean.cystinosis@sbcglobal.net
Internet: http://www.cystinosisfoundation.org

American Urological Association Foundation
1000 Corporate Blvd.
Linthicum, MD 21090
USA
Tel: 4106893700
Fax: 4106893800
Tel: 8667464282
Email: auafoundation@auafoundation.org
Internet: http://www.auafoundation.org

NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Tel: (800)891-5390
Email: nkudic@info.niddk.nih.gov
Internet: http://kidney.niddk.nih.gov/

Schneider, Jerry A., M.D.
University of California at San Diego
School of Medicine
Department of Pediatrics, 0609F
9500 Gilman Drive
La Jolla, CA 92093-0609
United States
Tel: 6195346988

Cystinosis Research Network
302 Whytegate Court
Lake Forest, IL 60045
USA
Tel: 8477350471
Fax: 8472763669
Tel: 8662763669
Email: info@cystinosis.org
Internet: http://www.cystinosis.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: 9203365333
Fax: 9203390995
Tel: 8773365333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Instituto de Errores Innatos del Metabolismo
Carrera 7 No 43-82
Bogota, Columbia
S.A. Edificio 53 Lab. 305A,
Tel: (50 )1 3-208320
Fax: (51 )1 3-384548
Email: abarrera@javeriana.edu.co
Internet: http://www.javeriana.edu.co

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.org

Cystinosis Research Foundation
18802 Bardeen Ave
Irvine, CA 92612
Tel: (949)223-7610
Fax: (949)756-5955
Email: info@natialieswish.org
Internet: http://www..cystinosisresearch.org

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
Copyright  1986, 1987, 1988, 1990, 1991, 1993, 1994, 1995, 1997, 1998, 1999, 2007National Organization for Rare Disorders, Inc.