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Copyright 1986, 1987, 1988, 1990, 1991, 1993, 1994, 1995, 1997, 1998, 1999, 2007
Synonyms of Cystinosis
- intermediate cystinosis
- nephropathic cystinosis
- non-nephropathic cystinosis
Disorder Subdivisions
- intermediate cystinosis
- nephropathic 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
Organizations related to Cystinosis
- American Urological Association Foundation
1000 Corporate Blvd.
Linthicum MD 21090
Phone #: 410-689-3700
800 #: 866-746-4282
e-mail: auafoundation@auafoundation.org
Home page: http://www.auafoundation.org
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Cystinosis Foundation, Inc.
604 Vernon Street
Oakland CA 94610
Phone #: --
800 #: 800-392-8458
e-mail: jean.cystinosis@sbcglobal.net
Home page: http://www.cystinosisfoundation.org
- Cystinosis Research Foundation
18802 Bardeen Avenue
Irvine CA 92612
Phone #: 949-223-7610
800 #: N/A
e-mail: info@natialieswish.org
Home page: http://www.cystinosisresearch.org
- Cystinosis Research Network
302 Whytegate Court
Lake Forest IL 60045
Phone #: 847-735-0471
800 #: 866-276-3669
e-mail: info@cystinosis.org
Home page: http://www.cystinosis.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Bogota None None
Phone #: (57-1) -3208320
800 #: N/A
e-mail: abarrera@javeriana.edu.co
Home page: http://www.javeriana.edu.co
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda MD 20892-3580
Phone #: N/A
800 #: 800-891-5390
e-mail: nkudic@info.niddk.nih.gov
Home page: 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
Phone #: 619-534-6988
800 #: --
e-mail: N/A
Home page: N/A
- Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org
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