Learn About Alagille Syndrome
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
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.
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.
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.
Shikha Sundaram is a Pediatric Gastroenterologist and a Gastroenterologist in Aurora, Colorado. Dr. Sundaram is rated as an Elite provider by MediFind in the treatment of Alagille Syndrome. Her top areas of expertise are Alagille Syndrome, Cholestasis, Biliary Atresia, Liver Transplant, and Endoscopy. Dr. Sundaram is currently accepting new patients.
Henkjan Verkade practices in Groningen, Netherlands. Mr. Verkade is rated as an Elite expert by MediFind in the treatment of Alagille Syndrome. His top areas of expertise are Progressive Familial Intrahepatic Cholestasis Type 1, Cholestasis, Alagille Syndrome, Liver Transplant, and Hepato-Pancreato-Biliary Surgery.
Liver And Intestine Transplant At Pediatric Gastroenterology In Lawrenceville
James E. Squires MD, MS, is a pediatric hepatologist and is certified in pediatric gastroenterology and advanced/transplant hepatology by the American Board of Pediatrics. He is an Associate Professor of Pediatrics and is the Associate Director of Hepatology and the Director of the Pediatric Transplant Hepatology Fellowship Program at the University of Pittsburgh School of Medicine. He received his medical degree from University of Texas and completed his residency followed by his fellowships in Pediatric Gastroenterology and Advanced/Transplant Hepatology at Cincinnati Children’s Hospital Medical Center. Dr. Squires is rated as an Elite provider by MediFind in the treatment of Alagille Syndrome. His top areas of expertise are Alagille Syndrome, Cholestasis, Progressive Familial Intrahepatic Cholestasis Type 1, Liver Transplant, and Gastrostomy.
Summary: This study will collect information from patients with Alagille syndrome (ALGS) as they use odevixibat (Bylvay) in their daily lives. Odevixibat is a medicine that helps patients with ALGS, a rare disease that harms their liver and causes itching. The main aim of this study is to observe the long-term, everyday effectiveness and safety of the drug odevixibat in patients with ALGS who are receiving...
Summary: The purpose of this study is to assess the long-term safety and effectiveness of odevixibat in participants with Alagille syndrome (ALGS). The participants of this study will have ALGS a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. Common symptoms, which often develop during the first three months of life, include ...
Published Date: December 01, 2014
Published By: National Institutes of Health