Alagille syndrome. The widening spectrum of arteriohepatic dysplasia

Clin Liver Dis. 2000 Nov;4(4):765-78. doi: 10.1016/s1089-3261(05)70140-9.


Alagille syndrome was described more than 35 years ago as a genetic entity characterized by five major features: chronic cholestasis resulting from paucity of interlobular bile ducts, peripheral pulmonary stenosis, butterflylike vertebral arch defect, posterior embryotoxon, and peculiar facies. Recently, JAGGED1 has been identified as a responsible gene by demonstration of mutations in AGS patients. Studies of the JAGGED1 expression pattern demonstrate that minor features and almost all the elements in the long list of manifestations described in AGS patients are not coincidental. This finding suggests that the definition of AGS may be reconsidered in the light of JAGGED1 mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alagille Syndrome / diagnosis
  • Alagille Syndrome / genetics*
  • Animals
  • Calcium-Binding Proteins
  • Cholestasis / genetics
  • Eye Abnormalities
  • Facies
  • Gene Expression
  • Humans
  • Intellectual Disability / genetics
  • Intercellular Signaling Peptides and Proteins
  • Jagged-1 Protein
  • Membrane Proteins
  • Mutation
  • Prognosis
  • Proteins / genetics*
  • Pulmonary Valve Stenosis / genetics
  • Serrate-Jagged Proteins
  • Spine / abnormalities


  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • JAG1 protein, human
  • Jagged-1 Protein
  • Membrane Proteins
  • Proteins
  • Serrate-Jagged Proteins