The genetics and ocular findings of Alagille syndrome.
Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.
D016738:Alagille Syndrome / Q000175:diagnosis / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D002135:Calcium-Binding Proteins / Q000235:genetics; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D000072100:Jagged-1 Protein; D008024:Ligands; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities*; D051881:Receptor, Notch1 / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D000072099:Serrate-Jagged Proteins; D015398:Signal Transduction / Q000502:physiology
D002135:Calcium-Binding Proteins; D036341:Intercellular Signaling Peptides and Proteins; C000606273:JAG1 protein, human; D000072100:Jagged-1 Protein; D008024:Ligands; D008565:Membrane Proteins; C497761:NOTCH1 protein, human; D051881:Receptor, Notch1; D000072099:Serrate-Jagged Proteins