Alagille Syndrome

Common Name(s)

Alagille Syndrome, Watson-Alagille Syndrome

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.  Symptoms, including jaundice, pale, loose stools, and poor growth, typically develop in the first 2 years of life. Symptoms and symptom severity varies, even among people in the same family. Alagille syndrome is caused by mutations in the JAG1 and NOTCH2 genes. It is inherited in an autosomal dominant pattern. Treatment is symptomatic and supportive. In severe cases, liver transplant may be necessary.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alagille Syndrome" for support, advocacy or research.

Alagille Syndrome Alliance

The purpose of the Alliance is to be the main networking resource and source of information for people with ALGS, their families, friends, and health care providers. The Alliance is also dedicated to increasing public awareness of ALGS and supporting research efforts on behalf of the ALGS community.

Last Updated: 25 May 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alagille Syndrome" for support, advocacy or research.

Alagille Syndrome Alliance

The purpose of the Alliance is to be the main networking resource and source of information for people with ALGS, their families, friends, and health care providers. The Alliance is also dedicated to increasing public awareness of ALGS and supporting research efforts on behalf of the ALGS community.

http://www.alagille.org

Last Updated: 25 May 2013

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General Support Organizations

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General Resources

ALGSA CONNECT Patient Registry

Registry open to anyone with ALGS.

Updated 25 May 2013

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Blogs

ALGSA President's Blog

Cindy Luxhoj Hahn's weekly blog about being a parent of a child with ALGS and running the ALGSA.

Updated 25 May 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Alagille Syndrome" returned 49 free, full-text research articles on human participants. First 3 results:

[Alagille syndrome].
 

Author(s): Mirta Ciocca, Fernando Alvarez

Journal: Arch Argent Pediatr. 2012 Dec;110(6):509-15.

 

Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused ...

Last Updated: 10 Dec 2012

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Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.
 

Author(s): Meghan Amson, Esther Lamoureux, Nir Hilzenrat, Marc Tischkowitz

Journal: Can. J. Gastroenterol.. 2012 Jun;26(6):330-2.

 

The authors describe two siblings, each with a different, rare genetic condition that affects liver function. The index case, the 18-year-old asymptomatic brother of a young man recently diagnosed with Wilson disease, presented for Wilson disease screening and was also found to have ...

Last Updated: 21 Jun 2012

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Liver transplantation for Alagille syndrome: the jagged edge.
 

Author(s): Benjamin L Shneider

Journal: Liver Transpl.. 2012 Aug;18(8):878-80.

 

Last Updated: 25 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Alagille Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Medical and dental management of Alagille syndrome: a review.
 

Author(s): Adam Berniczei-Royko, Renata Chałas, Iwona Mitura, Katalin Nagy, Elżbieta Prussak

Journal:

 

Alagille syndrome is a rare, autosomal, complex, dominant disorder associated with dysfunction of the liver, heart, skeleton, and eyes, as well as characteristic facial appearance. It is associated with the defect in component of the Notch signalling pathway. Here, we review the main ...

Last Updated: 24 Mar 2014

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Alagille syndrome: pathogenesis, diagnosis and management.
 

Author(s): Peter D Turnpenny, Sian Ellard

Journal: Eur. J. Hum. Genet.. 2012 Mar;20(3):251-7.

 

Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2). The main ...

Last Updated: 16 Feb 2012

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Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality.
 

Author(s): Binita M Kamath, Nancy B Spinner, Karan M Emerick, Albert E Chudley, Carol Booth, David A Piccoli, Ian D Krantz

Journal: Circulation. 2004 Mar;109(11):1354-8.

 

Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in Jagged1. Intracranial bleeding is a recognized complication and cause of mortality in AGS. There are multiple case reports of intracranial ...

Last Updated: 23 Mar 2004

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Characterization of Pulmonary Artery Stenoses in Alagille Syndrome - a Medical Record Review
 

Status: Recruiting

Condition Summary: Alagille Syndrome

 

Last Updated: 20 Nov 2014

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Evaluation of LUM001 in the Reduction of Pruritus in Alagille Syndrome
 

Status: Recruiting

Condition Summary: Alagille Syndrome

 

Last Updated: 9 Dec 2014

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