Alagille syndrome (AGS) is a congenital genetic multi-system disorder.
AGS is inherited in an autosomal fashion with a mutation of the JAG1 (90%) and NOTCH2 (1-2%) genes, located in the short arm of chromosome 20. Microdeletion of 20p12 is seen in ~7.5% of patients 6.
The spectrum of disease in AGS is diverse:
- paucity +/- stenoses of intrahepatic bile ducts that can eventually lead to liver cirrhosis and hepatic failure 4
- variable, including cystic kidney disease, small kidneys, echogenic kidneys and nephrocalcinosis 5
- butterfly type vertebrae (~50%)
- triangular facial
History and etymology
Named after Daniel Alagille, the French pediatrician (1925-2005) who first described it.
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- 2. Quek SC, Tan L, Quek ST et-al. Abdominal coarctation and Alagille syndrome. Pediatrics. 2000;106 (1): E9. Pediatrics (full text) - Pubmed citation
- 3. Anad F, Burn J, Matthews D et-al. Alagille syndrome and deletion of 20p. J. Med. Genet. 1990;27 (12): 729-37. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. Unsinn KM, Freund MC, Ellemunter H et-al. Spectrum of imaging findings after pediatric liver transplantation: part 2, posttransplantation complications. AJR Am J Roentgenol. 2003;181 (4): 1139-44. AJR Am J Roentgenol (full text) - Pubmed citation
- 5. Berrocal T, Gamo E, Navalón J et-al. Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases. Eur Radiol. 1997;7 (1): 115-8. Pubmed citation
- 6. Spinner NB, Leonard LD, Krantz ID. Alagille Syndrome. 2000 May 19 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1273/