This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Genetics

Authoring team

The genetic locus for Alagille syndrome (ALGS) is at chromosome 20p12.

The mode of inheritance is autosomal dominant with variable penetrance.

There are often microdeletions of chromosome 20.

ALGS is caused by mutations in one of two genes:

  • JAG1 and NOTCH2. It was initially described as a hepatic disease, but molecular testing has shown that individuals with ALGS and JAG1 or NOTCH2 mutations may present without overt liver disease (1)

Reference:

Related pages

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.