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Alagille Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • Alagille-Watson syndrome
  • arteriohepatic dysplasia
  • cholestasis with peripheral pulmonary stenosis
  • syndromic bile duct paucity

Disorder Subdivisions

  • None

General Discussion

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.

Resources

Alagille Syndrome Alliance
10500 SW Starr Drive
Tualatin, OR 97062
USA
Tel: (503)885-0455
Fax: (503)885-0455
Email: alagille@alagille.org
Internet: 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/
Internet: http://www.liverfoundation.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
Internet: http://www.ddnc.org

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
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, B3 3JY
United Kingdom
Tel: 01212123839
Fax: 01212124300
Email: info@childliverdisease.org
Internet: http://www.childliverdisease.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
Internet: http://www.classkids.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
Internet: http://www.liver.ca

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
Internet: http://www.tchin.org

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Childhood Liver Disease Research and Education Network
c/o Joan M. Hines, Research Administrator
Children's Hospital Colorado
13123 E 16th Ave. B290
Aurora, CO 80045
Tel: (720)777-2598
Fax: (720)777-7351
Email: joan.hines@childrenscolorado.org
Internet: http://www.childrennetwork.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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:  2/7/2013
Copyright  1987, 1990, 1996, 1998, 1999, 2007, 2010, 2013 National Organization for Rare Disorders, Inc.

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