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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
More Names
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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]


References

  1. Alagille Syndrome. National Digestive Diseases Information Clearinghouse (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/alagille/. Accessed March 14, 2012.
  2. Alagille Syndrome. American Liver Foundation. http://www.liverfoundation.org/abouttheliver/info/alagille/. Accessed March 14, 2012.
  3. Alagille syndrome. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=alagillesyndrome. Accessed March 14, 2012.
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General 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. Click on the link to go to GHR and review the 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 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Alagille syndrome. Click on the link to go to OMIM and review these resources.