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

Crigler Najjar Syndrome


Synonyms of Crigler Najjar Syndrome
  • Familial Nonhemolytic Unconjugated Hyperbilirubinemia
  • Hereditary Unconjugated Hyperbilirubinemia

Disorder Subdivisions

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


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.

Organizations related to Crigler Najjar Syndrome
  • American Liver Foundation
    75 Maiden Lane
    New York NY 10038
    Phone #: 212-668-1000
    800 #: 800-465-4837
    e-mail: info@liverfoundation.org
    Home page: http://www.liverfoundation.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
  • Children's Liver Disease Foundation
    None
    Birmingham Intl B3 3JY
    Phone #: 012-1-2-12-3839
    800 #: --
    e-mail: info@childliverdisease.org
    Home page: http://www.childliverdisease.org
  • Crigler-Najjar Association
    3134 Bayberry St.
    Wichita KS 67226
    Phone #: 316-685-7477
    800 #: --
    e-mail: mauckc@msn.com
    Home page: http://www.criglernajjar.com
  • 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
  • NIH/National Digestive Diseases Information Clearinghouse
    2 Information Way
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: 800-891-5389
    e-mail: nddic@info.niddk.nih.gov
    Home page: http://www.niddk.nih.gov
  • Parents of Infants and Children with Kernicterus
    One Superior Place
    Chicago IL 60610
    Phone #: 312-274-9695
    800 #: --
    e-mail: karendixon@pickonline.org
    Home page: http://www.PICKonline.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