Alagille syndrome is inherited in an autosomal dominant manner
Specialty
Medical genetics, Gastroenterology, Cardiology
Named after
Daniel Alagille
Alagille syndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000[1][2] to 1 in every 40,000 live births. It is named after the French pediatrician Daniel Alagille, who first described the condition in 1969.[3][4] Children with Alagille syndrome live to the age of 18 in about 90% of the cases.[5]
^Mitchell E, Gilbert M, Loomes KM (November 2018). "Alagille Syndrome". Clinics in Liver Disease. 22 (4): 625–641. doi:10.1016/j.cld.2018.06.001. PMID 30266153.
^Ayoub MD, Kamath BM (August 2022). "Alagille Syndrome: Current Understanding of Pathogenesis, and Challenges in Diagnosis and Management". Clinics in Liver Disease. 26 (3): 355–370. doi:10.1016/j.cld.2022.03.002. PMID 35868679.
^synd/729 at Who Named It?
^Alagille D, Odièvre M, Gautier M, Dommergues JP (January 1975). "Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur". The Journal of Pediatrics. 86 (1): 63–71. doi:10.1016/S0022-3476(75)80706-2. PMID 803282.
Alagillesyndrome (ALGS) is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become...
encoded by the NOTCH2 gene. NOTCH2 is associated with Alagillesyndrome and Hajdu–Cheney syndrome. Notch 2 is a member of the notch family. Members of...
organ systems in the body and causes the autosomal dominant disorder Alagillesyndrome (ALGS) resulting from loss of function mutations within the gene....
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms...
in 1971. Alagille directed a pediatric hepatology unit at Bicêtre Hospital in Paris for many years before retiring in 1990. Alagillesyndrome is named...
is a medication used to treat cholestatic pruritus in people with Alagillesyndrome. Maralixibat chloride is an ileal bile acid transporter (IBAT) inhibitor...
leukoencephalopathy (CADASIL), multiple sclerosis, Tetralogy of Fallot, and Alagillesyndrome. Inhibition of notch signaling inhibits the proliferation of T-cell...
Haller, J. O.; Kedia, Sanjay (1999). "Macromastia in a newborn with Alagillesyndrome". Pediatric Radiology. 29 (5): 331–333. doi:10.1007/s002470050601...
enzymes that control the glycosylation of Notch proteins, such as Alagillesyndrome. Non-enzymatic acquired alterations: Non-enzymatic disorders, are...
Action news. Retrieved 4 August 2015. Primary Biliary Cirrhosis page from the National Digestive Diseases Information Clearinghouse Alagillesyndrome...
encoded by the NOTCH2 gene. NOTCH2 is associated with Alagillesyndrome and Hajdu–Cheney syndrome. Notch signaling pathway Vardar D, North CL, Sanchez-Irizarry...
Cholestasis facies are a type of facies considered a symptom of Alagillesyndrome. However it appears not to be specific but "a general feature of congenital...
malformations can be atretic or fibrocystic. Intrahepatic bile duct atresia (Alagillesyndrome) (ALGS2 MIM:610205 and ALGS1 MIM:118450) Extrahepatic bile duct atresia...
risk for intrahepatic cholestasis of pregnancy.[citation needed] Alagillesyndrome Intrahepatic cholestasis of pregnancy Liver transplantation RESERVED...
PMID 17661092. Rand, Elizabeth B. (1998-02-01). "The Genetic Basis of the AlagilleSyndrome". Journal of Pediatric Gastroenterology & Nutrition. 26 (2): 234–236...
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