This website provides information on patients with mutations in the JAG1 gene, including clinical data, molecular data, management and research options.

Alagille syndrome, caused by mutations in the JAG1 gene, is a multisystem disorder characterized by liver disease including cholestasis, bile duct paucity, and pruritus; heart defects involving structural abnormalities such as peripheral pulmonary stenosis, Tetralogy of fallot, or ventricular and atrial septal defects, or functional cardiac anomalies such as murmurs; skeletal abnormalities, including butterfly vertebrae; eye abnormalities, including posterior embryotoxon; a distinctive facies characterized by a high broad forehead, deep set eyes and triangular shape of the face; and less frequently, renal, vascular and bone issues.

Alagille syndrome is characterized by highly variable expressivity and not all individuals with a mutation in the JAG1 gene have all of these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the JAG1 gene.

Melissa Gilbert, PhD, The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA, gilbertma@chop.edu

Nancy Spinner, PhD, The Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA, spinner@chop.edu