National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Alagille Syndrome is not the name you expected.
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, however in about half of cases the mutation arose as a new change ("de novo") in the individual and was not inherited from a parent.
Alagille Syndrome Alliance
- 10500 SW Starr Drive
- Tualatin, OR 97062
- Tel: (503)885-0455
- Fax: (503)885-0455
- Email: email@example.com
- Website: http://www.alagille.org
American Liver Foundation
- 39 Broadway, Suite 2700
- New York, NY 10006
- Fax: (212)483-8179
- Tel: (800)465-4837
- Email: http://www.liverfoundation.org/contact/
- Website: http://www.liverfoundation.org
Canadian Liver Foundation
- 3100 Steeles Avenue East Suite 801
- Markham Ontario, L3R 8T3
- Tel: 4164913353
- Fax: 9057521540
- Tel: 8005635483
- Email: firstname.lastname@example.org
- Website: http://www.liver.ca
Childhood Liver Disease Research and Education Network
- c/o Joan M. Hines, Research Administrator
- Children's Hospital Colorado
- Aurora, CO 80045
- Tel: (720)777-2598
- Fax: (720)777-7351
- Email: email@example.com
- Website: http://www.childrennetwork.org
Children's Liver Association for Support Services (C.L.A.S.S.)
- 25379 Wayne Mills Place, Suite 143
- Valencia, CA 91355
- Tel: (661)263-9099
- Fax: (661)263-9099
- Tel: (877)679-8256
- Email: firstname.lastname@example.org
- Website: http://www.classkids.org
Children's Liver Disease Foundation
- 36 Great Charles Street
- Birmingham, B3 3JY
- United Kingdom
- Tel: 1212123839
- Fax: 1212124300
- Email: email@example.com
- Website: http://www.childliverdisease.org
Congenital Heart Information Network (C.H.I.N.)
- P.O. Box 3397
- Margate City, NJ 08402-0397
- Tel: (609)823-4507
- Fax: (609)822-1574
- Email: firstname.lastname@example.org
- Website: http://www.tchin.org
Digestive Disease National Coalition
- 507 Capitol Court, NE
- Suite 200
- Washington, DC 20002
- Tel: (202)544-7497
- Fax: (202)546-7105
- Email: email@example.com
- Website: http://www.ddnc.org
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
- Office of Communications & Public Liaison
- Bldg 31, Rm 9A06
- Bethesda, MD 20892-2560
- Tel: (301)496-3583
- Email: NDDIC@info.niddk.nih.gov
- Website: http://www2.niddk.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
Last Updated: 3/21/2016
Copyright 2013 National Organization for Rare Disorders, Inc.
PeaceHealth endeavors to provide comprehensive health care information, however some topics in this database describe services and procedures not offered by our providers or within our facilities because they do not comply with, nor are they condoned by, the ethics policies of our organization.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.