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Adults with ALGS
Alagille Syndrome (OMIM #118450) is a rare genetic pediatric cholestatic liver disease that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. Some individuals may have mild forms of the disorder while others may have more serious forms.
Most people with Alagille syndrome have mutations in one copy of the JAG1 gene. A small percentage (less than 1 percent) of patients have mutations of the NOTCH2 gene. These mutations are inherited as autosomal dominant traits, however in about half of cases the mutation occurs as a new change (“de novo”) in the individual and was not inherited from a parent. The current estimated incidence of ALGS is between 1:30,000 and 1:70,000 with no difference in gender.
Click on any of the images on the right hand side of this page to view a very informative video about Alagille Syndrome.