Crigler Najjar Syndrome

National Organization for Rare Disorders, Inc.

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, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info.svcs@climb.org.uk
Internet: http://www.CLIMB.org.uk

American Liver Foundation
75 Maiden Lane
Suite 603
New York, NY 10038
USA
Tel: (212)668-1000
Fax: (212)483-8179
Tel: (800)465-4837
Email: info@liverfoundation.org
Internet: http://www.liverfoundation.org

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, Intl B3 3JY
United Kingdom
Tel: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
Email: info@childliverdisease.org
Internet: http://www.childliverdisease.org

Parents of Infants and Children with Kernicterus
One Superior Place
Suite 2410
Chicago, IL 60610
USA
Tel: (312)274-9695
Email: karendixon@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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

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

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