Alagille Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Alagille Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Alagille syndrome (OMIM #118450) 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 others 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 people with Alagille syndrome have mutations in one copy of the JAG1 gene. A small percentage (less than 1 percent) of patients have mutations of the NOTCH2 gene. These mutations are inherited as autosomal dominant traits, however in about half of cases the mutation occurs as a new change ("de novo") in the individual and was not inherited from a parent. The current estimated incidence of ALGS is between 1:30,000 and 1:45,000 with no difference in gender.

Supporting Organizations

Alagille Syndrome Alliance

10500 SW Starr Drive
Tualatin, OR 97062
USA
Tel: (503)885-0455
Fax: (503)885-0455
Email: alagille@alagille.org
Website: http://www.alagille.org

American Liver Foundation

39 Broadway, Suite 2700
New York, NY 10006
USA
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
Canada
Tel: 4164913353
Fax: 9057521540
Tel: 8005635483
Email: clf@liver.ca
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: joan.hines@childrenscolorado.org
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
USA
Tel: (661)263-9099
Fax: (661)263-9099
Tel: (877)679-8256
Email: info@classkids.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: info@childliverdisease.org
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: mb@tchin.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: ddnc@hmcw.org
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  2016 National Organization for Rare Disorders, Inc.