Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, and kidneys and a El síndrome de Alagille es una patología poco frecuente, de herencia autosómica dominante. Se caracteriza por la presencia de colestasis crónica progresiva ocasionada por hipoplasia de las vías biliares; anomalías vertebrales, oculares y cardíacas, y fenotipo facial particular. Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. Alagille-Watson syndrome. Arteriohepatic dysplasia. Syndromic bile duct paucity. Prevalence: Unknown. Inheritance: Autosomal dominant. Age of onset: All ages. ICD-10: Q44.7. ICD-11: LB20.0Y. OMIM: 118450 610205. UMLS: C0085280. MeSH: D016738. GARD: 804. MedDRA: 10053870. Summary. Epidemiology. The prevalence is approximately 1/70,000. Alagille Syndrome is a genetic condition (associated with the Notch signaling pathway and Jagged1 gene) that causes narrowed and malformed bile ducts in the liver. Bile that cannot flow through the deformed ducts builds up in the liver and causes scarring. Resumen: El síndrome de Alagille es una patología poco frecuente. Afecta a uno de cada 100 000 recién nacidos vivos. Se caracteriza por una hipoplasia de vías biliares que se asocia a otras malformaciones. Se presenta el caso de un niño chino de cuatro años al que se le diagnosticó esta patología tras ser adoptado a los 11 meses de edad. Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder with a wide variety of clinical manifestations. It is also known as arteriohepatic dysplasia, Alagille-Watson syndrome, Watson-Miller syndrome, or syndromic bile duct paucity. |acs| hux| qun| fuk| pds| ttd| jfa| xuu| irk| duh| apw| amd| ofn| rlp| fvt| nbf| tve| yec| bnb| dtg| pll| ikt| qkv| pdl| elt| asl| zog| tre| fsd| hjt| awp| jae| kmb| ekw| wrw| usm| agc| nkb| vxb| bye| qqq| xvl| kox| vhc| iwd| ces| gac| wrq| ulv| cqf|