Alagille syndrome


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 • • DATE UPDATED: 2016-07-11


Alagille Syndrome. Genetics Home Reference. (

Alagille Syndrome. GeneReviews. (

Contact a ThinkGenetic Counselor

Do you have additional questions that haven't been answered? Ask a ThinkGenetic Counselor — a real expert in the field of genetics. Just fill out this form to send an email. We will be in touch within 48 hours.

Please sign me up for your mailing list.

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me

Welcome to the ThinkGenetic beta. More content is added weekly so come back and check often. Please provide your feedback by filling out a contact us form.