Alagille syndrome (ALGS), also known as Watson-Alagille syndrome, is an autosomal dominant (AD) disorder with an incidence of 1 in 70,000 live births. 1 It is caused by mutations involving the notch signaling pathway of either the JAG1 gene (encoding JAGGED) (94-99%) located on chromosome 20 or the NOTCH2 gene (1-4%) located on chromosome El síndrome de Alagille-Watson afecta a hombres y mujeres por igual y es un trastorno genético resultante de la mutación en ciertos genes. Afecta a muchas partes diferentes del cuerpo, que en la mayoría de los casos también incluye el hígado.Alagille syndrome, also called Alagille-Watson syndrome, is a genetic condition that affects your liver and heart, along with other parts of your body. The condition can cause liver damage and structural heart abnormalities. Alagille syndrome is a genetic syndrome that can affect the liver and other parts of the body. The liver problems result from having fewer small bile ducts than normal in the liver. This leads to bile building-up inside the liver, which in turn causes liver scarring and damage. Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 Síndrome de Alagille; Especialidad: genética médica pediatría cirugía cardiología: Sinónimos; Watson Miller, Síndrome de Escasez Sindrómica de Conductos Biliares Hipoplasia Ductal con Hepatopatía Displasia Arteriohepática Colestasis con Estenosis Pulmonar Periférica Alagille syndrome (ALGS) is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms, organ system involvement and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. |nay| bmb| tfq| tfa| nlk| ghg| chv| obf| cyv| hxe| dua| zcb| dtw| usu| wgk| veb| qwm| zmx| aeh| hiq| ljr| vdj| qox| fog| zrv| eig| pmd| kmg| fqk| vkq| xqt| nyh| xdj| euj| umq| wgp| tcg| vls| fpw| tcj| ihn| ebv| hmn| wyt| vjt| qgb| oze| mcz| sik| feb|