Alagille syndrome

Common Name(s)

Alagille syndrome, Watson-Alagille syndrome

Alagille syndrome is a genetic condition that causes liver problems, heart defects, and unique facial features. Liver disease in Alagille syndrome mainly affects the bile ducts, which are passage ways between the liver and the gallbladder that carry a substance that helps break down fat (bile). In Alagille syndrome, there are either not enough bile ducts (bile duct paucity) or the bile ducts are too narrow. These abnormalities lead to a buildup of bile, which damages the liver. Symptoms of liver damage include a yellowish color to the skin and white parts of the eyes (jaundice) and itchy skin. The most common heart defect in Alagille syndrome is a decrease in the blood flow from the heart to the lungs (pulmonic stenosis). Facial features include a broad forehead, deep set eyes, and a small pointed chin. Symptoms of Alagille syndrome vary in severity from one affected person to another, even in the same family.

Most cases of Alagille syndrome (97%) are caused by a mutation in the JAG1 gene, while a few cases are caused by a mutation in the NOTCH2 gene. These genes act as instructions to make proteins that are important for development. Alagille syndrome is inherited in an autosomal dominant manner, which means a mutation in just one of the two gene copies a person has is enough to cause the condition.

The diagnosis of Alagille syndrome is considered in children who have bile duct abnormalities, a heart defect and unusual facial features. Genetic testing is used to officially confirm the diagnosis. Treatment options include medications or surgeries to help the liver function. In severe cases, a liver transplant may be needed. If your child has been diagnosed with Alagille syndrome, discuss treatment options with their doctor. A genetic counselor may be helpful to further discuss the diagnosis. Support groups are available as resources for more information and to connect with other families affected by Alagille syndrome.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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How do you compare to others with this condition?

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

Mouse Model of Alagille Syndrome and Mechanisms of Jagged1 Missense Mutations.
 

Author(s): Emma R Andersson, Indira V Chivukula, Simona Hankeova, Marika Sjöqvist, Yat Long Tsoi, Daniel Ramsköld, Jan Masek, Aiman Elmansuri, Anita Hoogendoorn, Elenae Vazquez, Helena Storvall, Julie Netušilová, Meritxell Huch, Björn Fischler, Ewa Ellis, Adriana Contreras, Antal Nemeth, Kenneth C Chien, Hans Clevers, Rickard Sandberg, Vitezslav Bryja, Urban Lendahl

Journal: Gastroenterology. 2018 03;154(4):1080-1095.

 

Alagille syndrome is a genetic disorder characterized by cholestasis, ocular abnormalities, characteristic facial features, heart defects, and vertebral malformations. Most cases are associated with mutations in JAGGED1 (JAG1), which encodes a Notch ligand, although it is not clear ...

Last Updated: 31 Dec 1969

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[Clinical and genetic study of an infant with Alagille syndrome: identification of a novel chromosomal interstitial deletion including JAG1 gene].
 

Author(s): Hua Li, Jia-Jia Liu, Mei Deng, Li Guo, Ying Cheng, Yuan-Zong Song

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Oct;19(10):1098-1103.

 

Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred ...

Last Updated: 31 Dec 1969

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Imaging findings of Alagille syndrome in young infants: differentiation from biliary atresia.
 

Author(s): Solbee Han, Tae Yeon Jeon, Sook Min Hwang, So-Young Yoo, Yon Ho Choe, Suk-Koo Lee, Ji Hye Kim

Journal: Br J Radiol. 2017 Aug;90(1077):20170406.

 

To compare the imaging findings using ultrasonography, MR cholangiopancreatography (MRCP), and intraoperative cholangiography (IOC) between Alagille syndrome (AGS) and biliary atresia (BA) in young infants with cholestatic jaundice.

Last Updated: 31 Dec 1969

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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:

[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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 14 Oct 2016

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Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)
 

Status: Recruiting

Condition Summary: Liver Diseases; Alagille Syndrome; Alpha 1-Antitrypsin Deficiency

 

Last Updated: 15 Feb 2018

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