WebNov 1, 2024 · Alagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. This syndrome mainly affects the liver, causing significant cholestasis, which is caused by a paucity of intrahepatic bile ducts. WebA number sign (#) is used with this entry because of evidence that Alagille syndrome-2 (ALGS2) is caused by heterozygous mutation in the NOTCH2 gene (600275) on chromosome 1p12. For a general phenotypic description and a discussion of genetic heterogeneity of Alagille syndrome, see ALGS1 (118450).
Alagille Syndrome Program - Stanford Medicine Children
WebAlagille syndrome is inherited in an "autosomal dominant" manner. We each typically have twp copies of every gene in our body. Genes provide instructions to our cells to … WebInheritance. autosomal dominant with a highly variable expressivity and nearly complete penetrance ; frequency is about 1\/70,000-100,000 live newborns ; 60-70% are sporadic cases. ... (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. Alagille D et al: 2074558: 1990: Alagille syndrome and deletion of 20p. Anad F et al ... fiche keys
NOTCH2 gene: MedlinePlus Genetics
WebJul 24, 2013 · Based on the work by Kamath et al. 10 in 2003 we estimate that the incidence of ALGS is 1 in 30 000–50 000 live births, but due to the variable phenotype it is likely to remain underdiagnosed. 1.9... WebMay 13, 2024 · Alagille syndrome (ALGS) is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and … WebAlagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical features. A majority of patients have pathogenic mutations in either the JAG1 gene, encoding a Notch pathway ligand, or the receptor NOTCH2. No genotype-phenotype correlations have been found in any organ system. fiche keith haring