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    Crigler Najjar Syndrome

    Important
    It is possible that the main title of the report Crigler Najjar Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Hereditary Unconjugated Hyperbilirubinemia
    • Familial Nonhemolytic Unconjugated Hyperbilirubinemia

    Disorder Subdivisions

    • Bilirubin Glucuronosyltransferase Deficiency Type I
    • Uridine Diphosphate Glucuronosyltransferase, Severe Def. Type I
    • Congenital Familial Nonhemolytic Jaundice Type I
    • Congenital Familial Nonhemolytic Jaundice Type

    General Discussion

    Crigler-Najjar syndrome is a rare genetic disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is a yellowish waste product that is formed when the liver breaks down old or worn out red blood cells (hemolysis). Individuals with Crigler-Najjar syndrome develop hyperbilirubinemia in the absence of hemolysis. The elevated bilirubin levels occur because affected individuals lack a specific liver enzyme required to break down (metabolize) bilirubin. The hallmark finding of Crigler-Najjar syndrome is persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe symptoms; and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Most cases of Crigler-Najjar syndrome are inherited as autosomal recessive traits and are due to errors or disruptions (mutations) of the UGT1 gene located on chromosome 2.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    American Liver Foundation
    39 Broadway, Suite 2700
    New York, NY 10006
    USA
    Fax: (212)483-8179
    Tel: (800)465-4837
    Email: http://www.liverfoundation.org/contact/
    Internet: http://www.liverfoundation.org

    Children's Liver Disease Foundation
    36 Great Charles Street
    Birmingham, B3 3JY
    United Kingdom
    Tel: 01212123839
    Fax: 01212124300
    Email: info@childliverdisease.org
    Internet: http://www.childliverdisease.org

    Parents of Infants and Children with Kernicterus (P.I.C.K.)
    One W. Superior Street
    Suite 2410
    Chicago, IL 60610
    USA
    Tel: (312)274-9695
    Email: info@pickonline.org
    Internet: http://www.pickonline.org/

    Crigler-Najjar Association/King's Way Foundation
    c/o Cory Mauck
    3134 Bayberry Street
    Wichita, KS 67226
    Tel: (316)685-7477
    Email: mauckc@msn.com
    Internet: http://www.criglernajjar.com

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    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: 3/27/2008
    Copyright 1997, 1998, 2002, 2008 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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