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 (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 [[Developmental Signals - Notch|Notch]] receptor signalling pathway. | ||
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{{Genetic}} | {{Genetic}} | ||
==Some Recent Findings== | ==Some Recent Findings== | ||
[[File:Human idiogram-chromosome 20.jpg|thumb|Chromosome 20]] | |||
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* '<ref><pubmed> | * '''Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome'''<ref name=PMID25676721><pubmed>25676721</pubmed></ref> "Alagille syndrome (AGS) is a multisystem autosomal dominant disorder that affects the liver, heart, eyes, face, bone, and other organs. AGS is caused by mutations in one of two genes, JAG1 or NOTCH2. We evaluated clinical features, outcomes, and the presence of JAG1 and NOTCH2 mutations in Korean children with AGS. PATIENTS AND METHODS: Between January 1997 and December 2013, 19 children were diagnosed with AGS at Asan Medical Center, Seoul, Korea. Their clinical features, outcomes, and JAG1 and NOTCH2 mutation status were retrospectively analyzed. RESULTS: The prevalence of clinical features in the 19 patients is as follows: Dysmorphic facial features, 100% (n=19); liver symptoms, 89% (n=17); cardiac symptoms, 95% (n=18); ophthalmologic symptoms, 67% (n=10); skeletal deformities, 47% (n=9); and renal symptoms, 21% (n=4). JAG1 mutations were identified in 14 patients. The thirteen different JAG1 mutations, seven of which were novel, included four deletions, three insertions, two missense mutations, three nonsense mutations, and one indel mutation. No NOTCH2 mutations were found. Two patients who received liver transplantation due to liver failure are still alive. Two patients died of comorbidities related to AGS, one of cardiac failure and one of hepatic failure." | ||
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<pubmed limit=5>Alagille Syndrome</pubmed> | <pubmed limit=5>Alagille Syndrome</pubmed> | ||
[http://www.ncbi.nlm.nih.gov/pubmed/?term=Jagged-1 ''Jagged-1''] | |||
<pubmed limit=5>Jagged-1</pubmed> | |||
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==Daniel Alagille== | |||
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}} | |||
==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. | |||
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{{External Links}} | {{External Links}} | ||
* '''Genetics Home Reference''' [http://ghr.nlm.nih.gov/condition/alagille-syndrome | * '''Genetics Home Reference''' [http://ghr.nlm.nih.gov/condition/alagille-syndrome 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] | * 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]] |
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 25) 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