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Diseases

Genetic and Rare Diseases Information Center (GARD)

Alagille syndrome


Other Names for this Disease
  • Hepatic ductular hypoplasia
  • Watson Alagille syndrome
  • Alagille-Watson syndrome
  • Cholestasis with peripheral pulmonary stenosis
  • Arteriohepatic dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Alagille syndrome is an inherited disorder in which a person has fewer than the normal number of small bile ducts inside the liver. It is a complex disorder that can affect other parts of the body including the heart, kidneys, blood vessels, eyes, face, and skeleton.[1] Symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life.[1][2] Symptoms and symptom severity varies, even among people in the same family.[1] Alagille syndrome is caused by mutations in the JAG1 and NOTCH2 genes. It is inherited in an autosomal dominant pattern.[3] Treatment is symptomatic and supportive. In severe cases, liver transplant may be necessary.[1]
Last updated: 11/1/2012

References

  1. Alagille Syndrome. National Digestive Diseases Information Clearinghouse (NDDIC). 2012; http://digestive.niddk.nih.gov/ddiseases/pubs/alagille/. Accessed 3/14/2012.
  2. Alagille Syndrome. American Liver Foundation. 2011; http://www.liverfoundation.org/abouttheliver/info/alagille/. Accessed 3/14/2012.
  3. Alagille syndrome. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition=alagillesyndrome. Accessed 3/14/2012.
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Basic Information

  • The American Liver Foundation provides information about Alagille syndrome. Click on the above link to view this information.
  • Genetics Home Reference (GHR) contains information on Alagille syndrome. This website is maintained by the National Library of Medicine.
  • The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alagille syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hepatic ductular hypoplasia
  • Watson Alagille syndrome
  • Alagille-Watson syndrome
  • Cholestasis with peripheral pulmonary stenosis
  • Arteriohepatic dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.