Alagille SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
Rubenstein Child Health Building
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. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Alagille Syndrome, Cholestasis, Hepatitis E, Liver Transplant, and Endoscopy. Dr. Karnsakul is board certified in American Board Of Pediatrics.
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. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Alagille Syndrome, Cholestasis, Progressive Familial Intrahepatic Cholestasis Type 1, Liver Transplant, and Gastrostomy. Dr. Squires is board certified in American Board Of Pediatrics and American Board Of Pediatrics. Dr. Squires is currently accepting new patients.
Taubman Center
John C. Magee, M.D., is the Jeremiah & Claire Turcotte Professor of Transplant Surgery. Dr. Magee received his undergraduate degree from the University of Pennsylvania and his medical degree from Jefferson Medical College. He completed his General Surgery residency at the University of Michigan in 1996. During his residency, Dr. Magee spent three years as a research fellow in the Department of Surgery at Duke University Medical Center where he focused on endothelial cell biology in inflammation and xenotransplantation. He also completed the Post-Doctoral Research Training Program at the University of Michigan. Following general surgery training, he completed a two-year multi-organ transplant surgery fellowship at the University of Michigan. He joined the faculty in 1998.Dr. Magee's clinical interests include the care of adults and children requiring kidney, pancreas and liver transplantation, as well as management of immunosuppressive therapy and its complications. Dr. Magee is currently the head, section of transplantation and director of the pediatric liver and kidney transplant program. Dr. Magee is rated as an Elite provider by MediFind in the treatment of Alagille Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Biliary Atresia, Alagille Syndrome, Cholestasis, Liver Transplant, and Kidney Transplant. Dr. Magee is board certified in Surgery.
Summary: In patients with Alagille syndrome (ALGS), the key objectives are to evaluate the tolerability, long-term safety (including possible liver toxicity) and long-term efficacy of Livmarli treatment. In patients with Progressive Familial Intrahepatic Cholestasis (PFIC), the key objectives are to evaluate tolerability, long-term safety (including possible liver toxicity and potential impact of chronic e...
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...
Published Date: December 01, 2014
Published By: National Institutes of Health