Alagille Syndrome Clinical Care Program

Related Reading

These articles and book chapters — many authored or co-authored by Children's Hospital physicians and researchers — offer more detailed medical information about Alagille syndrome. Some of these resources are available online, so we've provided the appropriate links.

The staff at the Connelly Resource Center for Families may be able to help you locate resources not available online; you may also want to try your local library or a medical school library near you.

(Bolded authors are currently members of the Alagille Syndrome Clinical Care Program at The Children's Hospital of Philadelphia)

General Alagille Articles

Kamath BM, Piccoli DA. Heritable disorders of the bile ducts. Gastroenterol Clin North Am. 2003 Sep;32(3):857-75.

Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology. 1999; 29(3):822-9.

Krantz ID, Piccoli DA, Spinner NB. Syndrome of the month: Alagille syndrome. J Med Genet. 1997; 34: 152-157.

Krantz ID, Piccoli DA, Spinner NB. Clinical and molecular genetics of Alagille syndrome. Curr Opin Pediatr. 1999; 11(6):558-64.

Hoffenberg EJ, Narkewicz MR, Sondheimer JM, Smith DJ, Silverman A, Sokol RJ. Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr. 1995;127(2):220-4.

Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr. 1987;110(2):195-200

Biliary Diversion

Emerick KM, Whitington PF. Long-term outcome after partial external biliary diversion for intractable pruritus in patients with intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 2000;30(2):152-6.

Whitington PF, Whitington GL. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology. 1988;95(1):130-6.

Cardiac Disease

Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB. Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet. 1999; 84(1):56-60.

Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ. The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Hum Mol Genet. 1999; 8(13):2443-9.

McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation. 2002; 106(20):2567-74.


Spinner NB. Genetics of Alagille Syndrome. Prog in Cardiol. 2005; 20:169-176

Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet. 2003; 40(12):891-5.

Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet. 2002;112(2):163-70.

Albayram F, Stone K, Nagey D, Schwarz KB, Blakemore K. Alagille syndrome: prenatal diagnosis and pregnancy outcome. Fetal Diagn Ther. 2002;17(3):182-4.

Kamath BM, Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Craniosynostosis in Alagille syndrome. Am J Med Genet. 2002;112(2)176-80.

Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Mutation Update: Jagged1 Mutations in Alagille syndrome. Hum Mut. 2001; 17:18-33.

Crosnier C, Attie-Bitach T, Encha-Razavi F, Audollent S, Soudy F, Hadchouel M, Meunier-Rotival M, Vekemans M. JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. Hepatology. 2000;32(3):574-81.

Louis AA, Van Eyken P, Haber BA, Hicks C, Weinmaster G, Taub R, Rand EB. Hepatic jagged1 expression studies. Hepatology. 1999;30(5):1269-75.

Spinner NB. Alagille syndrome and the notch signaling pathway: new insights into human development. Gastroenterology. 60, 1999; 116(5):1257-60.

Rand EB. The genetic basis of the Alagille syndrome. J Pediatr Gastroenterol Nutr. 1998; 26(2):234-6.

Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 . Nat Genet. 1997; 16(3):243-51.

Growth and Nutrition

Arvay JL, Zemel BS, Gallagher PR, Rovner AJ, Mulberg AE, Stallings VA, Haber BA. Body composition of children aged 1 to 12 years with biliary atresia or Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;40(2):146-50.

Rovner AJ, Schall JI, Jawad AF, Piccoli DA, Stallings VA, Mulberg AE, Zemel BS. Rethinking growth failure in Alagille syndrome: the role of dietary intake and steatorrhea. J Pediatr Gastroenterol Nutr. 2002;35(4):495-502.

Quiros-Tejeira RE, Ament ME, Heyman MB, Martin MG, Rosenthal P, Gornbein JA, McDiarmid SV, Vargas JH. Does liver transplantation affect growth pattern in Alagille syndrome? Liver Transpl. 2000;6(5):582-7.

Sokol RJ. Alagille syndrome: A nutritional niche for Notch. J Pediatr. 1999;134(2):136-8.

Wasserman D, Zemel BS, Mulberg AE, John HA, Emerick KM, Barden EM, Piccoli DA, Stallings VA. Growth, nutritional status, body composition, and energy expenditure in prepubertal children with Alagille syndrome. J Pediatr. 1999; 134(2):172-7.

Bucuvalas JC, Horn JA, Carlsson L, Balistreri WF, Chernausek SD. Growth hormone insensitivity associated with elevated circulating growth hormone-binding protein in children with Alagille syndrome and short stature. J Clin Endocrinol Metab. 1993;76(6):1477-82.

Sokol RJ, Butler-Simon N, Conner C, Heubi JE, Sinatra FR, Suchy FJ, Heyman MB, Perrault J, Rothbaum RJ, Levy J, et al. Multicenter trial of d-alpha-tocopheryl polyethylene glycol 1000 succinate for treatment of vitamin E deficiency in children with chronic cholestasis. Gastroenterology. 1993 Jun;104(6):1727-35

Sokol RJ, Stall C. Anthropometric evaluation of children with chronic liver disease. Am J Clin Nutr. 1990 Aug;52(2):203-8

Bucuvalas JC, Cutfield W, Horn J, Sperling MA, Heubi JE, Campaigne B, Chernausek SD. Resistance to the growth-promoting and metabolic effects of growth hormone in children with chronic liver disease. J Pediatr. 1990;117(3):397-402.

Liver Disease and Transplantation

Maldini G, Torri E, Lucianetti A, Guizzetti M, Pinelli D, Bertani A, Corno V, Giovanelli M, Zambelli M, Stroppa P, Alberti D, Torre G, Spada M, Gridelli B, Colledan M. Orthotopic liver transplantation for Alagille syndrome. Transplant Proc. 2005;37(2):1174-6

Kasahara M, Kiuchi T, Inomata Y, Uryuhara K, Sakamoto S, Ito T, Fujimoto Y, Ogura Y, Oike F, Tanaka K. Living-related liver transplantation for Alagille syndrome. Transplantation. 2003;75(12):2147-50.

Gandhi SK, Reyes J, Webber SA, Siewers RD, Pigula FA. Case report of combined pediatric heart-lung-liver transplantation. Transplantation. 2002; 27;73(12):1968-9

Lykavieris P, Hadchouel M, Chardot C, Bernard O. Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut. 2001;49(3):431-5.

Haberal M, Arda IS, Karakayali H, Emiroglu R, Bilgin N, Arslan G, Coskun M, Boyacioglu S. Successful heterotopic segmental liver transplantation from a live donor to a patient with Alagille syndrome. J Pediatr Surg. 2001;36(4):667-71

Quiros-Tejeira RE, Ament ME, Heyman MB, Martin MG, Rosenthal P, Hall TR, McDiarmid SV, Vargas JH. Variable morbidity in Alagille syndrome: a review of 43 cases. J Pediatr Gastroenterol Nutr. 1999;29(4):431-7.

Yerushalmi B, Sokol RJ, Narkewicz MR, Smith D, Karrer FM. Use of rifampin for severe pruritus in children with chronic cholestasis. J Pediatr Gastroenterol Nutr. 1999 Oct;29(4):442-7.

Witzleben CL, Finegold M, Piccoli DA, Treem WR. Bile canalicular morphometry in arteriohepatic dysplasia. Hepatology. 1987; 7:1262-1266.


Harendza S, Hubner CA, Glaser C, Burdelski M, Thaiss F, Hansmann I, Gal A, Stahl RA. Renal failure and hypertension in Alagille syndrome with a novel JAG1 mutation. J Nephrol. 2005;18(3):312-7.

Russo PA, Ellis D, Hashida Y. Renal histopathology in Alagille's syndrome. Pediatr Pathol. 1987;7(5-6)557-68.

Schonck M, Hoorntje S, van Hooff J. Renal transplantation in Alagille syndrome. Nephrol Dial Transplant. 1998;13(1):197-9.

Gilboa N, Hopp L, Agostini RM. IgA nephritis in a patient with Alagille syndrome and a transplanted liver. Pediatr Nephrol. 1992;6(6):559-61.


Hingorani M, Nischal KK, Davies A, Bentley C, Vivian A, Baker AJ, Mieli-Vergani G, Bird AC, Aclimandos WA. Ocular abnormalities in Alagille syndrome. Ophthalmology. 106(2):330-7.

Nischal KK, Hingorani M, Bentley CR, Vivian AJ, Bird AC, Baker AJ, Mowat AP, Mieli-Vergani G, Aclimandos WA. Ocular ultrasound in Alagille syndrome: a new sign. Ophthalmology. 1997;104(1):79-85.

Potamitis T, Fielder AR. Angle closure glaucoma in Alagille syndrome. A case report. Ophthalmic Paediatr Genet. 1993;14(2):101-4.

Wells KK, Pulido JS, Judisch GF, Ossoinig KC, Fisher TC, LaBrecque DR. Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia). J Pediatr Ophthalmol Strabismus. 1993;30(2):130-5.

Skeletal Defects

Sanderson E, Newman V, Haigh SF, Baker A, Sidhu PS. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. Pediat Radiol. 2002;32(2)114-9.

Olsen IE, Ittenbach RF, Rovner AJ, Leonard MB, Mulberg AE, Stallings VA, Piccoli DA, Zemel BS. Deficits in size-adjusted bone mass in children with Alagille syndrome.J Pediatr Gastroenterol Nutr. 2005 Jan;40(1):76-82.

Berrocal T, Gamo E, Navalon J, Prieto C, Al-Assir I, Cortes P, Pastor I, Hierro L. Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases. Eur Radiol. 1997;7(1):115-8.


Emerick KM, Krantz ID, Kamath BM, Darling C, Burrowes DM, Spinner NB, Whitington PF, Piccoli DA. Intracranial vascular abnormalities in patients with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005;41(1):99-107.

Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004; 109 (11):1354-8.

Textbook Chapters

Kamath BM, Piccoli DA. Alagille Syndrome. In: Encyclopedia of Pediatric Gastroenterology. Elsevier; 2004. p. 20-24.

Kamath BM, Krantz ID. Alagille Syndrome. In: Cassidy and Allanson, editor. Management of Genetic Syndromes, 2nd edition.. Wiley-Liss, 2005, p. 31-40.

Piccoli DA. Alagille Syndrome. In: Suchy F, editor. Liver Disease in Children, 2nd ed. Philadelphia: W.B. Saunders; 2001. p. 327-342.

Piccoli DA, Witzleben CL. Disorders of Intrahepatic Bile Ducts. In: Walker , Goulet, Kleinman, Sherman, Shneider, Sanderson editors. Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management. 4th ed. Hamilton, Ontario: BC Decker Inc.;2004.

Rand EB. Alagille syndrome. In Altschuler SM, Liacouras CA., editors. Pediatric Gastroenterology. London: Churchill, Livingstone, Inc.; 1997.

Reviewed by: David Piccoli, MD
Date: November 2005

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