Alagille Syndrome: Difference between revisions
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==Introduction== | ==Introduction== | ||
Alagille syndrome is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 on chromosome 20p12. Jagged-1 | Alagille syndrome is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 (JAG1) on chromosome 20p12. Jagged-1 is a ligand in the [[Developmental Signals - Notch|Notch]] receptor signalling pathway. | ||
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* '''Genetics Home Reference''' [http://ghr.nlm.nih.gov/condition/alagille-syndrome Williams Syndrome] | * '''Genetics Home Reference''' [http://ghr.nlm.nih.gov/condition/alagille-syndrome Williams Syndrome] | ||
* National Institute of Diabetes and Digestive and Kidney Diseases [http://www.niddk.nih.gov/health-information/health-topics/liver-disease/Alagille-Syndrome/Pages/facts.aspx Alagille Syndrome] | * National Institute of Diabetes and Digestive and Kidney Diseases [http://www.niddk.nih.gov/health-information/health-topics/liver-disease/Alagille-Syndrome/Pages/facts.aspx Alagille Syndrome] | ||
* '''OMIM''' [http://www.omim.org/entry/118450 | * '''OMIM''' [http://www.omim.org/entry/118450 Alagille Syndrome] | [http://omim.org/entry/601920 Jagged 1] | ||
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[[Category:Genetics]] [[Category:Neural]] [[Category:Head]] | [[Category:Abnormal Development]][[Category:Genetics]] [[Category:Neural]] [[Category:Head]][[Category:Liver]] |
Revision as of 18:04, 21 February 2015
Embryology - 19 Apr 2024 Expand to Translate |
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Introduction
Alagille syndrome is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 (JAG1) on chromosome 20p12. Jagged-1 is a ligand in the Notch receptor signalling pathway.
Named after Daniel Alagille (1925 - 2005) a French physician who specialized in pediatric hepatology, the study of childhood liver diseases.
Some Recent Findings
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More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Alagille Syndrome <pubmed limit=5>Alagille Syndrome</pubmed> |
References
- ↑ <pubmed>22792262</pubmed>
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Search Pubmed: Williams Syndrome | GTF2IRD1
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- Genetics Home Reference Williams Syndrome
- National Institute of Diabetes and Digestive and Kidney Diseases Alagille Syndrome
- OMIM Alagille Syndrome | Jagged 1
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Cite this page: Hill, M.A. (2024, April 19) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Alagille_Syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G