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What is Alagille Syndrome?

Alagille Syndrome (OMIM #118450) is the most commonly encountered rare cholestatic liver disease seen by pediatric hepatologists. It 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.

The video to right, in English and Spanish, is a wonderful animated description of Alagille Syndrome. Sponsored by Travere Therapeutics for the ALGS community, it was developed by National Organization for Rare Disorders (NORD).

Below, you will find frequently asked questions about Alagille Syndrome which will continue to be expanded through 2024.

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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.

Recommended Reading

Frequently Asked Questions

How is Alagille syndrome diagnosed?

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How is Alagille syndrome diagnosed?

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Is there a cure for Alagille syndrome?

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Is Alagille syndrome hereditary?

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How is Alagille syndrome diagnosed?

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What are the symptoms / characteristics of Alagille Syndrome?

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Are there treatments for Alagille syndrome?

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Is Alagille syndrome life limiting or life threatening?

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ALGS Specialist

wdt_ID Country IMage Image Program Name (Pediatrics) Location Details Important Links
1 USA
cropped-2018LOGO®.png Screenshot-2023-11-03-at-9.26-1.png Program Name (Pediatrics)

Alagille Syndrome Program
650-399-3765
Alagille@stanfordchildrens.org
Location Details

Lucile Packard Children’s Hospital
Stanford
725 Welch Rd
State: California
Palo Alto, CA 94304
Important Links

Alagille Syndrome
Program
2 USA
Screenshot-2023-11-03-at-9.39-1-150x124.png Program Name (Pediatrics)

Alagille Syndrome Program
650-399-3765
Alagille@stanfordchildrens.org
Location Details

Lucile Packard Children’s Hospital
Stanford
725 Welch Rd
Palo Alto, CA 94304
Important Links

Liver Clinic
3 USA
Screenshot-2023-11-03-at-10.03-1-150x148.png Program Name (Pediatrics)

Gastroenterology, Hepatology & Nutrition
323-361-2181
Location Details

Dividion of Gastroenterology, Hepatology
& Nutrition
4650 Sunset Blvd.
State: Los Angeles
CA 90027
Important Links

Gastroenterology,
Hepatology
Nutrition
4 USA
Screenshot-2023-11-03-at-10.54-1-150x150.png Program Name (Pediatrics)

The UCLA Health Pediatric Liver Transplant Program
310-825-8138
Location Details

UCLA Mattel Children’s Hospital
757 Westwood Plaza
State: Los Angeles
CA 90095
Important Links

Pediatric Liver
Transplant Program


Liver Transplant
Expert Team

5 USA
Screenshot-2023-11-03-at-11.12-1-150x150.png Program Name (Pediatrics)

Pediatric Liver Center
877-822-4453
Location Details

UCSF Benioff Children’s Hospitals
744 52nd St.
State: Oakland
CA 94609
Important Links

Pediatric Liver Center

Pediatric Liver Transplant Program
Country Location Details

Desease Education

  • Alagille Syndrome Alliance

ALGSAcademy

The ALGSA has developed numerous educational resources, manuals and guides, one-page informational resources, and more which keep patients and families informed in many areas. Explore our resource library which will continue to grow as we load them into our new website over the next few weeks.
  • National Organization for Rare Disorders

NORD Alagille Syndrome Explanation Video

ALGS education is crucial for understanding the unique complexity of Alagille Syndrome. The reasons behind its varying severity remain unclear, making accessible resources essential. Explore our updated library covering diagnosis, ALGS in the classroom, genetics, and more.

  • Karger

Karger Learning Module for Physicians and Patients

This interactive course is designed to teach healthcare providers about the pathophysiology, diagnosis and management of Alagille Syndrome, touching on clinical advances and research directions in the field.
  • HCP live

Peer Exchange: Management of ALGS

HCP Live's 2022 educational series on Alagille Syndrome Management, featuring experts like Dr. Balistreri and Dr. Rosenthal, provides insights into diagnosis and treatment optimization for this condition.
  • Rare Disease 360

Rare Disease 360 – Alagille Syndrome Channel

Rare Disease 360, ALGSA's media partner, is a hub for rare disease information. Teaming up in 2019, they provide current insights on Alagille Syndrome for healthcare professionals through articles, case studies, and news. Explore the site for the latest on ALGS.

Resource Library

Patient and Caregiver Manuals and Guides

One-Page Educational Resources

Translated Resources

ALGSA Patient and Family Program Guide

New Diagnosis Guide

ALGS Care Manual

Succeeding in the Classroom Guide

What is Alagille Syndrome

The Genetics of ALGS

Genetics of ALGS: FAQ

Alagille Syndrome - More Than a Liver Disease

We have many translated resources and we will continue to add to the website. If you have something you're interested in please email us.