Alagille syndrome

Overview

What is Alagille syndrome?

Alagille syndrome is a genetic condition that affects many parts of the body including the liver and heart. In most individuals with this condition, liver problems are the predominant feature of the disease. They may also have issues with their heart, skeleton (bones), eyes, and facial features that are similar to other people who have this condition. The symptoms of Alagille syndrome can be very different in different people, even if they are in the same family. The most common symptoms are problems with their liver-caused by abnormalities in the bile duct, differences in the structure of the heart, common facial features, and vertebrae (bones of the spine) shaped like butterflies. It is inherited in an autosomal dominant manner, meaning that having a change in one copy of a gene involved in Alagille syndrome is enough to cause the condition. The genes involved in Alagille syndrome are JAG1 and NOTCH2. Alagille syndrome can be inherited from a parent who has the syndrome or can be new in a child.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/alagille-syndrome/overview/7482 • DATE UPDATED: 2016-07-11

References

Alagille Syndrome. Genetics Home Reference. (http://ghr.nlm.nih.gov/condition/alagille-syndrome)

Alagille Syndrome. GeneReviews. (http://www.ncbi.nlm.nih.gov/books/NBK1273/)

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