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Crigler Najjar Syndrome
Important
It is possible that the main title of the report Crigler Najjar Syndromeis not the name you expected.
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
info@climb.org.uk
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
800: (800)465-4837
info@liverfoundation.org
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
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov
Children's Liver Disease Foundation
36 Great Charles Street Queensway
Birmingham
Intl
B3 3JY
United Kingdom
Tel: 0121-212-3839
Fax: 0121-212-4300
info@childliverdisease.org
http://www.childliverdisease.org
Parents of Infants and Children with Kernicterus
One Superior Place
Suite 2410
Chicago
IL
60610
USA
Tel: (312)274-9695
karendixon@pickonline.org
http://www.PICKonline.org
Crigler-Najjar Association
3134 Bayberry St.
Wichita
KS
67226
Tel: (316)685-7477
mauckc@msn.com
http://www.criglernajjar.com
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
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 of Rare Disorders
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