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 52 free, full-text research articles on human participants. First 3 results:

Pathological fracture of the femur in Alagille syndrome that was treated with low-intensity pulsed ultrasound stimulation and an Ilizarov ring fixator: a case report.
 

Author(s): Koji Nozaka, Yoichi Shimada, Naohisa Miyakoshi, Shin Yamada, Yuji Kasukawa, Atsuko Noguchi

Journal:

 

Alagille syndrome is a multisystem disorder, which is characterized by hypoplasia of the intrahepatic bile ducts, malformations of the cardiovascular system, eyes, and vertebral column, and abnormal facies. Several of the characteristics of Alagille syndrome may result in an especially ...

Last Updated: 25 Jul 2014

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Alagille syndrome with a previously undescribed mutation.
 

Author(s): Vidyut Bhatia, Pawan Kumar

Journal: Indian Pediatr. 2014 Apr;51(4):314-6.

 

Alagille Syndrome is a rare genetic disease characterized by abnormalities of the intrahepatic biliary ducts with cholestasis along with multisystem anomalies.

Last Updated: 14 May 2014

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Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
 

Author(s): Dorota Jurkiewicz, Dorota Gliwicz, Elżbieta Ciara, Jennifer Gerfen, Magdalena Pelc, Dorota Piekutowska-Abramczuk, Monika Kugaudo, Krystyna Chrzanowska, Nancy B Spinner, Małgorzata Krajewska-Walasek

Journal: J. Appl. Genet.. 2014 Aug;55(3):329-36.

 

Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by developmental abnormalities in several organs including the liver, heart, eyes, vertebrae, kidneys, and face. The majority (90-94%) of ALGS cases are caused by mutations in the JAG1 (JAGGED1) gene, and in ...

Last Updated: 18 Jul 2014

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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 7 free, full-text review articles on human participants. First 3 results:

[Advances in the diagnosis and treatment of Alagille syndrome].
 

Author(s): Yan-Li Ma, Yuan-Zong Song

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Nov;16(11):1188-92.

 

Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is an autosomal dominant disease with multisystem involvement. In this disease, the Notch signalling pathway is impaired due to mutation in JAG1 (ALGS type 1) or NOTCH2 (ALGS type 2) gene, affecting multiple organs ...

Last Updated: 21 Nov 2014

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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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: 17 Mar 2015

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