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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
- Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome "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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Search term: Alagille Syndrome
<pubmed limit=5>Alagille Syndrome</pubmed>
This genetic syndrome is named for Daniel Alagille (1925 - 2005) 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)
|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)
- Q38.0 Congenital malformations of lips, not elsewhere classified Congenital: fistula of lip malformation of lip NOS Van der Woude's syndrome Excl.: cleft lip (Q36.-) cleft lip with cleft palate (Q37.-) macrocheilia (Q18.6) microcheilia (Q18.7)
- Q38.1 Ankyloglossia Tongue tie
- Q38.2 Macroglossia
- Q38.3 Other congenital malformations of tongue Aglossia Bifid tongue Congenital: adhesion fissure malformation NOS of tongue Hypoglossia Hypoplasia of tongue Microglossia
- Q38.4 Congenital malformations of salivary glands and ducts Absence Accessory Atresia (of) salivary gland or duct Congenital fistula of salivary gland
- Q38.5 Congenital malformations of palate, not elsewhere classified Absence of uvula Congenital malformation of palate NOS High arched palate Excl.: cleft palate (Q35.-) cleft palate with cleft lip (Q37.-)
- Q38.6 Other congenital malformations of mouth Congenital malformation of mouth NOS
- Q38.7 Pharyngeal pouch Diverticulum of pharynx Excl.: pharyngeal pouch syndrome (D82.1)
- Q38.8 Other congenital malformations of pharynx Congenital malformation of pharynx NOS
|Q39 Congenital malformations of oesophagus
- Q39.0 Atresia of oesophagus without fistula Atresia of oesophagus NOS
- Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula Atresia of oesophagus with broncho-oesophageal fistula
- Q39.2 Congenital tracheo-oesophageal fistula without atresia Congenital tracheo-oesophageal fistula NOS
- Q39.3 Congenital stenosis and stricture of oesophagus
- Q39.4 Oesophageal web
- Q39.5 Congenital dilatation of oesophagus
- Q39.6 Diverticulum of oesophagus Oesophageal pouch
- Q39.8 Other congenital malformations of oesophagus Absent Congenital displacement Duplication (of) oesophagus
- Q39.9 Congenital malformation of oesophagus, unspecified
|Q40 Other congenital malformations of upper alimentary tract
- Q40.0 Congenital hypertrophic pyloric stenosis Congenital or infantile: constriction hypertrophy spasm stenosis stricture of pylorus
- Q40.1 Congenital hiatus hernia Displacement of cardia through oesophageal hiatus Excl.: congenital diaphragmatic hernia (Q79.0)
- Q40.2 Other specified congenital malformations of stomach Congenital: displacement of stomach diverticulum of stomach hourglass stomach Duplication of stomach Megalogastria Microgastria
- Q40.3 Congenital malformation of stomach, unspecified
- Q40.8 Other specified congenital malformations of upper alimentary tract
- Q40.9 Congenital malformation of upper alimentary tract, unspecified Congenital: anomaly deformity NOS of upper alimentary tract
|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)
- Q41.0 Congenital absence, atresia and stenosis of duodenum
- Q41.1 Congenital absence, atresia and stenosis of jejunum Apple peel syndrome Imperforate jejunum
- Q41.2 Congenital absence, atresia and stenosis of ileum
- Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
- Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified Congenital absence, atresia and stenosis of intestine NOS
|Q42 Congenital absence, atresia and stenosis of large intestine
Incl.: congenital obstruction, occlusion and stricture of large intestine
- Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
- Q42.1 Congenital absence, atresia and stenosis of rectum without fistula Imperforate rectum
- Q42.2 Congenital absence, atresia and stenosis of anus with fistula
- Q42.3 Congenital absence, atresia and stenosis of anus without fistula Imperforate anus
- Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
- Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
|Q43 Other congenital malformations of intestine
- Q43.0 Meckel's diverticulum Persistent: omphalomesenteric duct vitelline duct
- Q43.1 Hirschsprung's disease Aganglionosis Congenital (aganglionic) megacolon
- Q43.2 Other congenital functional disorders of colon Congenital dilatation of colon
- Q43.3 Congenital malformations of intestinal fixation Congenital adhesions [bands]: omental, anomalous peritoneal Jackson's membrane Malrotation of colon Rotation: failure of incomplete insufficient of caecum and colon Universal mesentery
- Q43.4 Duplication of intestine
- Q43.5 Ectopic anus
- Q43.6 Congenital fistula of rectum and anus Excl.: congenital fistula: rectovaginal (Q52.2) urethrorectal (Q64.7) pilonidal fistula or sinus (L05.-) with absence, atresia and stenosis (Q42.0,Q42.2)
- Q43.7 Persistent cloaca Cloaca NOS
- Q43.8 Other specified congenital malformations of intestine Congenital: blind loop syndrome diverticulitis, colon diverticulum, intestine Dolichocolon Megaloappendix Megaloduodenum Microcolon Transposition of: appendix colon intestine
- Q43.9 Congenital malformation of intestine, unspecified
|Q44 Congenital malformations of gallbladder, bile ducts and liver
- Q44.0 Agenesis, aplasia and hypoplasia of gallbladder Congenital absence of gallbladder
- Q44.1 Other congenital malformations of gallbladder Congenital malformation of gallbladder NOS Intrahepatic gallbladder
- Q44.2 Atresia of bile ducts
- Q44.3 Congenital stenosis and stricture of bile ducts
- Q44.4 Choledochal cyst
- Q44.5 Other congenital malformations of bile ducts Accessory hepatic duct Congenital malformation of bile duct NOS Duplication: biliary duct cystic duct
- Q44.6 Cystic disease of liver Fibrocystic disease of liver
- Q44.7 Other congenital malformations of liver Accessory liver Alagille's syndrome Congenital: absence of liver hepatomegaly malformation of liver NOS
|Q45 Other congenital malformations of digestive system
Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)
- Q45.0 Agenesis, aplasia and hypoplasia of pancreas Congenital absence of pancreas
- Q45.1 Annular pancreas
- Q45.2 Congenital pancreatic cyst
- Q45.3 Other congenital malformations of pancreas and pancreatic duct Accessory pancreas Congenital malformation of pancreas or pancreatic duct NOS Excl.: diabetes mellitus: congenital (E10.-) neonatal (P70.2) fibrocystic disease of pancreas (E84.-)
- Q45.8 Other specified congenital malformations of digestive system Absence (complete)(partial) of alimentary tract NOS Duplication Malposition, congenital of digestive organs NOS
- Q45.9 Congenital malformation of digestive system, unspecified Congenital: anomaly deformity NOS of digestive system
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, 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
- sender cell (high ligand, low receptor) and receiver cell (low ligand, high receptor).
- Notch Intracellular Domain (NICD) - activates many downstream target genes.
- ↑ <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>
Search Pubmed: Williams Syndrome | GTF2IRD1
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Cite this page: Hill, M.A. (2020, October 25) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Alagille_Syndrome
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