Alagille syndrome 1

Common Name(s)

Alagille syndrome 1

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype ({38:Li et al., 1997}). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia ({28:Kamath et al., 2012}). {68:Turnpenny and Ellard (2012)} reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille Syndrome Another form of Alagille syndrome (ALGS2; {610205}) is caused by mutation in the NOTCH2 gene ({600275}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Alagille syndrome 1" 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 1" 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 1" returned 1 free, full-text research articles on human participants. First 3 results:

Mutational analysis of the Jagged 1 gene in Alagille syndrome families.
 

Author(s): Z R Yuan, T Kohsaka, T Ikegaya, T Suzuki, S Okano, J Abe, N Kobayashi, M Yamada

Journal: Hum. Mol. Genet.. 1998 Sep;7(9):1363-9.

 

Alagille syndrome (AGS) is an autosomal dominant disease characterized by five major abnormalities in the liver, heart, face, vertebrae and eye. The responsible gene has been recently identified as the human Jagged 1 (JAG1) gene, which encodes a ligand for the Notch receptor. We analyzed ...

Last Updated: 16 Oct 1998

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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 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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 Sep 2014

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