Alagille syndrome
עודכן לאחרונה 7 Apr 2021
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Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
תיאור
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body.
One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile duct paucity). As a result, bile builds up in the liver and causes scarring that prevents the liver from working properly to eliminate wastes from the bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itchy skin, and deposits of cholesterol in the skin (xanthomas).
Alagille syndrome is also associated with several heart problems, including impaired blood flow from the heart into the lungs (pulmonic stenosis). Pulmonic stenosis may occur along with a hole between the two lower chambers of the heart (ventricular septal defect) and other heart abnormalities. This combination of heart defects is called tetralogy of Fallot.
People with Alagille syndrome may have distinctive facial features including a broad, prominent forehead; deep-set eyes; and a small, pointed chin. The disorder may also affect the blood vessels within the brain and spinal cord (central nervous system) and the kidneys. Affected individuals may have an unusual butterfly shape of the bones of the spinal column (vertebrae) that can be seen in an x-ray.
Problems associated with Alagille syndrome generally become evident in infancy or early childhood. The severity of the disorder varies among affected individuals, even within the same family. Symptoms range from so mild as to go unnoticed to severe heart and/or liver disease requiring transplantation.
Some people with Alagille syndrome may have isolated signs of the disorder, such as a heart defect like tetralogy of Fallot, or a characteristic facial appearance. These individuals do not have liver disease or other features typical of the disorder.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Alagille's syndrome
Alagille-Watson syndrome
Arteriohepatic dysplasia (AHD)
Cardiovertebral syndrome
Cholestasis with peripheral pulmonary stenosis
Hepatic ductular hypoplasia
Hepatofacioneurocardiovertebral syndrome
Paucity of interlobular bile ducts
Watson-Miller syndrome
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קריאה נוספת והפניות
- Alagille syndrome; MedlinePlus, National Library of Medicine.
- Berniczei-Royko A, Chalas R, Mitura I, Nagy K, Prussak E. Medical and dental management of Alagille syndrome: a review. Med Sci Monit. 2014 Mar 24;20:476-80. doi: 10.12659/MSM.890577.
- 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 JAGGED1 proteins in Alagille syndrome: inhibitory effect on Notch signaling. Hum Mol Genet. 2007 Nov 15;16(22):2683-92. doi: 10.1093/hmg/ddm222. Epub 2007 Aug 24.
- 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.
- Kamath BM, Spinner NB, Rosenblum ND. Renal involvement and the role of Notch signalling in Alagille syndrome. Nat Rev Nephrol. 2013 Jul;9(7):409-18. doi: 10.1038/nrneph.2013.102. Epub 2013 Jun 11.
- Kim BJ, Fulton AB. The genetics and ocular findings of Alagille syndrome. Semin Ophthalmol. 2007 Oct-Dec;22(4):205-10. doi: 10.1080/08820530701745108.
- McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006 Jul;79(1):169-73. doi: 10.1086/505332. Epub 2006 May 10.
- Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. Jagged1 mutations in alagille syndrome. Hum Mutat. 2001;17(1):18-33. doi: 10.1002/1098-1004(2001)17:13.0.CO;2-T.
- Spinner NB, Loomes KM, Krantz ID, Gilbert MA. Alagille Syndrome. 2000 May 19 [updated 2024 Jan 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1273/
- Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012 Mar;20(3):251-7. doi: 10.1038/ejhg.2011.181. Epub 2011 Sep 21.
- 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. doi: 10.1002/humu.20310.
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