Alagille Syndrome: Difference between revisions
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This genetic syndrome is named for Daniel Alagille (1925 - 2005)<ref>Claude, R. '''Obituary for Daniel Alagille.''' Journal of Pediatric Gastroenterology & Nutrition: February 2006 - Volume 42 - Issue 2 - pp 127-128 doi: 10.1097/01.mpg.0000189357.93784.48 [http://journals.lww.com/jpgn/Fulltext/2006/02000/Obituary_for_Daniel_Alagille.1.aspx J Pediatr Gastroenterol Nutr.]</ref> a paediatric hepatologist, originally trained at Hôpital St-Vincent-de-Paul and was then appointed Professeur agrégé (1963). He was director of the Paediatric Hepatology Unit at Bicêtre Hospital (Paris, France). | This genetic syndrome is named for Daniel Alagille (1925 - 2005)<ref>Claude, R. '''Obituary for Daniel Alagille.''' Journal of Pediatric Gastroenterology & Nutrition: February 2006 - Volume 42 - Issue 2 - pp 127-128 doi: 10.1097/01.mpg.0000189357.93784.48 [http://journals.lww.com/jpgn/Fulltext/2006/02000/Obituary_for_Daniel_Alagille.1.aspx J Pediatr Gastroenterol Nutr.]</ref> a paediatric hepatologist, originally trained at Hôpital St-Vincent-de-Paul and was then appointed Professeur agrégé (1963). He was director of the Paediatric Hepatology Unit at Bicêtre Hospital (Paris, France). | ||
==International Classification of Diseases == | |||
{{ICD GIT table}} | {{ICD GIT table}} | ||
==Jagged-1== | ==Jagged-1== | ||
(JAGGED 1, JAG1, JAGL1) | |||
Jagged-mediated signaling through the notch pathway drives a cell (receiver) to maintain a similar fate to that of its signaling neighbour (sender). | |||
'''Notch Jagged signaling'''<ref name=PMID25605936><pubmed>25605936</pubmed></ref> | |||
* sender cell (high ligand, low receptor) and receiver cell (low ligand, high receptor). | |||
* Notch Intracellular Domain (NICD) - activates many downstream target genes. | |||
Latest revision as of 07:53, 1 March 2015
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Introduction
Alagille syndrome (AGS) 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 recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Alagille Syndrome <pubmed limit=5>Alagille Syndrome</pubmed> <pubmed limit=5>Jagged-1</pubmed> |
Daniel Alagille
This genetic syndrome is named for Daniel Alagille (1925 - 2005)[2] a paediatric hepatologist, originally trained at Hôpital St-Vincent-de-Paul and was then appointed Professeur agrégé (1963). He was director of the Paediatric Hepatology Unit at Bicêtre Hospital (Paris, France).
International Classification of Diseases
ICD10 Other congenital malformations of the digestive system (Q38-Q45) |
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XVII Congenital Malformations - Other congenital malformations of the digestive system (Q38-Q45) |
Q38 Other congenital malformations of tongue, mouth and pharynx
Excl.: macrostomia (Q18.4) microstomia (Q18.5)
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Q39 Congenital malformations of oesophagus
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Q40 Other congenital malformations of upper alimentary tract
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Q41 Congenital absence, atresia and stenosis of small intestine
Incl.: congenital obstruction, occlusion and stricture of small intestine or intestine NOS Excl.: meconium ileus (E84.1)
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Q42 Congenital absence, atresia and stenosis of large intestine
Incl.: congenital obstruction, occlusion and stricture of large intestine
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Q43 Other congenital malformations of intestine
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Q44 Congenital malformations of gallbladder, bile ducts and liver
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Q45 Other congenital malformations of digestive system
Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)
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World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English) |
Links: Gastrointestinal Abnormalities |
ICD10 - Gastrointestinal | Genital | Renal | Integumentary |
Jagged-1
(JAGGED 1, JAG1, JAGL1)
Jagged-mediated signaling through the notch pathway drives a cell (receiver) to maintain a similar fate to that of its signaling neighbour (sender).
Notch Jagged signaling[3]
- sender cell (high ligand, low receptor) and receiver cell (low ligand, high receptor).
- Notch Intracellular Domain (NICD) - activates many downstream target genes.
References
- ↑ <pubmed>25676721</pubmed>
- ↑ Claude, R. Obituary for Daniel Alagille. Journal of Pediatric Gastroenterology & Nutrition: February 2006 - Volume 42 - Issue 2 - pp 127-128 doi: 10.1097/01.mpg.0000189357.93784.48 J Pediatr Gastroenterol Nutr.
- ↑ <pubmed>25605936</pubmed>
Reviews
<pubmed></pubmed>
Articles
<pubmed></pubmed> <pubmed></pubmed>
Search PubMed
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 Alagille 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 18) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Alagille_Syndrome
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