It is possible that the main title of the report Alagille 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.
Alagille syndrome is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. Some individuals may have mild forms of the disorder while other may have more serious forms. Common symptoms, which often develop during the first three months of life, include blockage of the flow of bile from the liver (cholestasis), yellowing of the skin and mucous membranes (jaundice), poor weight gain and growth, severe itching (pruritis) and pale, loose stools. Additional symptoms include heart murmurs, congenital heart defects, vertebral (back bone) differences, thickening of the ring that normally lines the cornea in the eye (posterior embryotoxon) and distinctive facial features. Most cases of Alagille syndrome occur due to mutations in one copy of the JAG1 gene. A small percentage (less than 1 percent) of cases occur due to mutations of the NOTCH2 gene. These mutations are inherited as autosomal dominant traits.
Alagille Syndrome Alliance
10500 SW Starr Drive
Tualatin, OR 97062
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
Digestive Disease National Coalition
507 Capitol Court, NE
Washington, DC 20002
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, Intl B3 3JY
Tel: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
Children's Liver Association for Support Services (C.L.A.S.S.)
25379 Wayne Mills Place, Suite 143
Valencia, CA 91355
Canadian Liver Foundation
2235 Sheppard Avenue
Toronto, Ontario, Intl M2J 5B5
Tel: (416) 491-3353
Fax: (416) 491-4952
Tel: (800) 563-5483
Congenital Heart Information Network (C.H.I.N.)
101 N Washington Ave, Suite 1A
Margate City, NJ 08402-1195
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
PO Box 241956
Los Angeles, CA 90024
Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator; The Children's Hospital
13123 E 16th Ave.
Aurora, CO 80045
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.
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Last Updated: 7/30/2010
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