ALAGILLE SYNDROME RESOURCESParent resourcesAlagille Syndrome Message BoardSignup for the CLiC Patient Contact Registry to be contacted in the future about clinical research opportunities. Buy an AGS bookmark and bracelet and support the Alagille Syndrome Alliance. Discovery of Alagille SyndromeIn 1975, a pediatric hepatologist in France first described a group of children with cholestatic liver disease that also exhibited other features including heart problems and characteristic facial features. This disorder has been referred to as Alagille-Watson syndrome, syndromic bile duct paucity and arteriohepatic dysplasia, but is most commonly known as Alagille syndrome. CHOPSymptoms of Alagille SyndromeNutritional malabsorpotion, jaundice, itching due to build up of bile sales, lowered oxygen saturations.DefinitionsAlagille syndrome is a genetic disorder estimated to occur in 1 of 70,000 to 100,000 birth caused by mutations in the JAG1 and NOTCH2 genes. These genes help proteins fit or notch together. JAG1 or NOTCH2 gene mutations disrupt cellular signaling during embryonic of the heart, bile ducts (liver), spine, kidneys and eyes. Paucity, narrowing and malformed bile ducts allow bile to build in the liver and cause scarring that inhibits the liver functions that eliminate wastes from the bloodstream. Heart conditions range from mild to serious and include stenosis, tetralogy of fallot and pulmonary atresiaOverview webpagesThe Cholestatic Liver Disease Consortium (CLiC) is a collaborative team of doctors, nurses, research coordinators, and patient support organizations throughout the US and London, UK working together to improve the lives of children and families dealing with rare Cholestatic Liver Diseases. The goal of the CLiC team is to investigate five genetic causes of intrahepatic cholestasis and to train the next generation of clinical researchers.Excite Health Encyclopedia on Alagille Syndrome First Principles of Gastroenterology - Cholestasis, Portal Hypertension, Ascites TIPS Proceedure (Transjugular Intrahepatic Portosystemic Shunt) Children's Hospital Boston,Cleveland Clinic, Baylor College TIPS complications: penetrating the hepatic artery, encephalopothy "If the patients liver failure is bad enough that they are close to complete liver failure, the TIPS procedure can push the patient into complete liver failure." (Washington University School Of Medicine) HOSPITAL PROGRAMS FOR ALAGILLE SYNDROMEChildren's Hospital Of Philadephia (CHOP) - Welcome to the Alagille Syndrome Clinical Care ProgramCHOP Alagille Syndrome Glossary Gene Discovery May Shed Light On Kidney Diseases; Second Gene Found For Alagille Syndrome May Have Broader Role GeneticsGenetics Home reference on Alagille Syndrome - a service of the U.S. National Library of MedicineOMIM - Online Mendelian Inheritance in Man ALAGILLE SYNDROME; ALGS ALAGILLE-WATSON SYNDROME; AWS CHOLESTASIS WITH PERIPHERAL PULMONARY STENOSIS ARTERIOHEPATIC DYSPLASIA; AHD HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC see MedicineNet.com entry ALAGILLE SYNDROME 1; ALGS1 JAGGED 1; JAG1 ALAGILLE SYNDROME 2; ALGS2 NOTCH, DROSOPHILA, HOMOLOG OF, 2; NOTCH2>br> DMOZ Alagille Syndrome directory Jurg Reichen, Foundation for Research in Liver Decease, Universität Bern Cincinnati Children's Medical Center Alagille information [updated] Johns Hopkins University - OMIM
Clinical diagnostic criteria for Alagille SyndromeNancy B Spinner, PhD; Ian D Krantz, MD; Binita M Kamath, MBBChir Richard Rutter The clinical diagnostic criteria for Alagille syndrome include: The histological finding of bile duct paucity (an increased portal tract-to-bile duct ratio) on liver biopsy. Although considered to be the most important and constant feature of AGS, bile duct paucity is not present in infancy in many individuals ultimately shown to have AGS. In the newborn, a normal ratio of portal tracts to bile ducts, bile duct proliferation, or a picture suggestive of neonatal hepatitis may be observed. Overall, bile duct paucity is present in about 90% of individuals. Three of the following five major clinical features (in addition to bile duct paucity): Cholestasis Cardiac defect (most commonly stenosis of the peripheral pulmonary artery and its branches) Skeletal abnormalities (most commonly butterfly vertebrae identified in AP chest radiographs) Ophthalmologic abnormalities (most commonly posterior embryotoxon) Characteristic facial features [Alagille et al 1987] Stories of kids with Alagille SyndromeKaren and Chris's tribute to Kevin Christopher McLane, Kevin McLane's 2nd birthday partyColin McCowan AGS kids page at the Alagille Syndrome Alliance |