Learn About Alagille Syndrome

What is the definition of Alagille Syndrome?

Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

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What are the causes of Alagille Syndrome?

In more than 90 percent of cases, mutations in the JAG1 gene cause Alagille syndrome. Another 7 percent of individuals with Alagille syndrome have small deletions of genetic material on chromosome 20 that include the JAG1 gene. A few people with Alagille syndrome have mutations in a different gene, called NOTCH2. The JAG1 and NOTCH2 genes provide instructions for making proteins that fit together to trigger interactions called Notch signaling between neighboring cells during embryonic development. This signaling influences how the cells are used to build body structures in the developing embryo. Changes in either the JAG1 gene or NOTCH2 gene probably disrupt the Notch signaling pathway. As a result, errors may occur during development, especially affecting the bile ducts, heart, spinal column, and certain facial features.

How prevalent is Alagille Syndrome?

The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This figure is based on diagnoses of liver disease in infants, and may be an underestimation because some people with Alagille syndrome do not develop liver disease during infancy.

Is Alagille Syndrome an inherited disorder?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder.

Who are the top Alagille Syndrome Local Doctors?
Elite
Highly rated in
23
conditions

The Hospital For Sick Children

Toronto, ON, CA 

Binita Kamath is in Toronto, Canada. Kamath is rated as an Elite expert by MediFind in the treatment of Alagille Syndrome. She is also highly rated in 23 other conditions, according to our data. Her top areas of expertise are Alagille Syndrome, Cholestasis, Biliary Hypoplasia, and Pulmonary Valve Stenosis.

Elite
Highly rated in
9
conditions
Pediatric Gastroenterology
Pediatrics

Children's Hospital Of Philadelphia

3401 Civic Center Blvd 
Philadelphia, PA 19104

Kathleen Loomes is a Pediatric Gastroenterologist and a Pediatrics doctor in Philadelphia, Pennsylvania. Dr. Loomes is rated as an Elite doctor by MediFind in the treatment of Alagille Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Alagille Syndrome, Biliary Atresia, Cholestasis, and Pulmonary Valve Stenosis. She is licensed to treat patients in Pennsylvania. Dr. Loomes is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
3
conditions
Pediatric Gastroenterology
Pediatrics

Children's Hospital Of Philadelphia

3401 Civic Center Blvd 
Philadelphia, PA 19104

David Piccoli is a Pediatric Gastroenterologist and a Pediatrics doctor in Philadelphia, Pennsylvania. Dr. Piccoli has been practicing medicine for over 43 years and is rated as an Elite doctor by MediFind in the treatment of Alagille Syndrome. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Alagille Syndrome, Cholestasis, Pulmonary Valve Stenosis, and Biliary Hypoplasia. He is licensed to treat patients in Pennsylvania. Dr. Piccoli is currently accepting new patients.

What are the latest Alagille Syndrome Clinical Trials?
A Phase 3 Double-blind, Randomized, Placebo-controlled Study of the Safety and Efficacy of Odevixibat (A4250) in Patients With Alagille Syndrome (ASSERT)
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Coordination of Rare Diseases at Sanford
Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Alagille Syndrome?
Midaortic syndrome and renovascular hypertension.
Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study.
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Clinical features and gene mutation analysis of patients with Alagille syndrome.