Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Cystinosis


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
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • Cystinosis Foundation, Inc.
    604 Vernon St
    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 Ave
    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: crn@cystinosis.org
    Home page: http://www.cystinosis.org
  • Hide & Seek Foundation for Lysosomal Disease Research
    4123 Lankershim Blvd.
    North Hollywood CA 91602-2828
    Phone #: 818-762-8621
    800 #: N/A
    e-mail: info@hideandseek.org
    Home page: http://www.hideandseek.org
  • Instituto de Errores Innatos del Metabolismo
    Carrera 7 No 43-82
    S.A. Edificio 53 Lab. 305A None None
    Phone #: 50 -1 3-208320
    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 #: 914-428-7100
    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
    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



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