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Genetic and Rare Diseases Information Center (GARD)

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Alagille syndrome


Other Names for this Disease

  • Alagille-Watson syndrome
  • Arteriohepatic dysplasia
  • Cardiovertebral syndrome
  • Cholestasis with peripheral pulmonary stenosis
  • Hepatic ductular hypoplasia
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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

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The 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
  • Alagille-Watson syndrome
  • Arteriohepatic dysplasia
  • Cardiovertebral syndrome
  • Cholestasis with peripheral pulmonary stenosis
  • Hepatic ductular hypoplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.