Crigler Najjar Syndrome / Disease

Diseases & Conditions

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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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.childliverdisease.org
Crigler-Najjar Association
3134 Bayberry St.
Wichita KS 67226
Phone #: 316-685-7477
800 #: --
e-mail: [email protected]
Home page: http://www.criglernajjar.com
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
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: [email protected]
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: [email protected]
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