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.
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Dr. Wikrom Karnsakul is an associate professor of pediatrics at the Johns Hopkins University School of Medicine. His clinical interests are in the care of pediatric liver diseases, and general gastrointestinal diseases. Dr. Karnsakul received his medical degree in 1992 from Faculty of Medicine, Siriraj Medical Center, Mahidol University School of Medicine in Bangkok, Thailand. He completed his residency in pediatrics at Advocate Hope Children's Hospital in 1998 and did a fellowship in pediatric gastroenterology, hepatology and nutrition at Texas Children's Hospital, Baylor College of Medicine in Houston, Texas. He completed his postdoctoral research training at USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine. He joined the faculty at Johns Hopkins in 2008. His research interests center on the understanding and treatment of chronic liver disease, ascites, cholestasis, viral hepatitis especially hepatitis C and hepatitis E, and Cystic Fibrosis Related Liver Disease. Dr. Karnsakul is also involved in NIH-funded multicenter research studies including the Cholestatic Liver Disease Consortium and Cystic Fibrosis Related Liver Disease Project. Dr. Karnsakul is currently a Fellow of the American Association for the Study of Liver Diseases (FAASLD). Dr. Karnsakul is rated as an Elite provider by MediFind in the treatment of Alagille Syndrome. His top areas of expertise are Alagille Syndrome, Cholestasis, Hepatitis E, Liver Transplant, and Endoscopy.
James Squires is a Pediatric Gastroenterologist and a Pediatrics provider in Pittsburgh, Pennsylvania. 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