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Tang, P. Alagille Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5931 (accessed on 21 September 2026).
Tang P. Alagille Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5931. Accessed September 21, 2026.
Tang, Peter. "Alagille Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5931 (accessed September 21, 2026).
Tang, P. (2020, December 31). Alagille Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5931
Tang, Peter. "Alagille Syndrome." Encyclopedia. Web. 31 December, 2020.
Alagille Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/alagille-syndrome

Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.

genetic conditions

References

  1. Berniczei-Royko A, Chałas R, Mitura I, Nagy K, Prussak E. Medical and dentalmanagement of Alagille syndrome: a review. Med Sci Monit. 2014 Mar 24;20:476-80. doi: 10.12659/MSM.890577. Review. Citation on PubMed or Free article on PubMed Central
  2. Boyer-Di Ponio J, Wright-Crosnier C, Groyer-Picard MT, Driancourt C, Beau I,Hadchouel M, Meunier-Rotival M. Biological function of mutant forms of JAGGED1proteins in Alagille syndrome: inhibitory effect on Notch signaling. Hum MolGenet. 2007 Nov 15;16(22):2683-92. Epub 2007 Aug 24. Citation on PubMed
  3. Hartley JL, Gissen P, Kelly DA. Alagille syndrome and other hereditary causes of cholestasis. Clin Liver Dis. 2013 May;17(2):279-300. doi:10.1016/j.cld.2012.12.004. Review. Citation on PubMed
  4. Kamath BM, Spinner NB, Rosenblum ND. Renal involvement and the role of Notchsignalling in Alagille syndrome. Nat Rev Nephrol. 2013 Jul;9(7):409-18. doi:10.1038/nrneph.2013.102. Epub 2013 Jun 11. Review. Citation on PubMed
  5. Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome.Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. Review. Citation on PubMed
  6. McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA,Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder ofthe notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. Epub 2006 May10. Citation on PubMed or Free article on PubMed Central
  7. Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-RotivalM. Jagged1 mutations in alagille syndrome. Hum Mutat. 2001;17(1):18-33. Review. Citation on PubMed
  8. Spinner NB, Gilbert MA, Loomes KM, Krantz ID. Alagille Syndrome. 2000 May 19[updated 2019 Dec 12]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1273/ Citation on PubMed
  9. Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis andmanagement. Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181.Epub 2011 Sep 21. Review. Citation on PubMed or Free article on PubMed Central
  10. Warthen DM, Moore EC, Kamath BM, Morrissette JJ, Sanchez-Lara PA, Piccoli DA, Krantz ID, Spinner NB. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat. 2006 May;27(5):436-43. Erratum in: HumMutat. 2013 Feb;34(2):408. Sanchez, P [corrected to Sanchez-Lara, P A]. Citation on PubMed
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
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Entry Collection: MedlinePlus
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Update Date: 31 Dec 2020
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