title: Alagille syndrome: an overview.
abstract: Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1. It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts. It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and ocular embryotoxon. The prognosis depends on the severity of the liver and heart diseases. Hepatocarcinoma has been reported.
authors.affiliation: Medical School of Salerno, Salerno, Italy. pvajro@unisa.it
authors.forename: Pietro
authors.initials: P
authors.lastname: Vajro
authors.forename: Lorenza
authors.initials: L
authors.lastname: Ferrante
authors.forename: Giulia
authors.initials: G
authors.lastname: Paolella
mesh_terms: D016738:Alagille Syndrome / Q000150:complications* / Q000175:diagnosis*; D001361:Avitaminosis / Q000209:etiology / Q000628:therapy; D001653:Bile Ducts, Intrahepatic / Q000002:abnormalities; D001662:Biliary Tract Surgical Procedures; D002135:Calcium-Binding Proteins / Q000235:genetics; D004032:Diet; D006801:Humans; D015994:Incidence; D007223:Infant; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D000072100:Jagged-1 Protein; D016031:Liver Transplantation; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011379:Prognosis; D011537:Pruritus / Q000188:drug therapy / Q000209:etiology; D000072099:Serrate-Jagged Proteins
chemical_list: D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008565:Membrane Proteins; D000072099:Serrate-Jagged Proteins