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.
cholestasis with peripheral pulmonary stenosis
syndromic bile duct paucity
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 USA Tel: (503)885-0455 Fax: (503)885-0455 Email: email@example.com 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: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.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: email@example.com 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: firstname.lastname@example.org Internet: http://www.tchin.org
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com 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: firstname.lastname@example.org Internet: http://www.childrennetwork.org
For a Complete Report
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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
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