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GTR Home > Conditions/Phenotypes > Alagille syndrome due to a JAG1 point mutation


Excerpted from the GeneReview: Alagille Syndrome
Alagille syndrome (ALGS) is a multisystem disorder with a wide spectrum of clinical variability; this variability is seen even among individuals from the same family. The major clinical manifestations of ALGS are bile duct paucity on liver biopsy, cholestasis, congenital cardiac defects (primarily involving the pulmonary arteries), butterfly vertebrae, ophthalmologic abnormalities (most commonly posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, developmental delays, splenomegaly, and vascular abnormalities may also occur.

Genes See tests for all associated and related genes

  • Also known as: AGS, AGS1, AHD, AWS, CD339, CMT2HH, DCHE, HJ1, JAGL1, JAG1
    Summary: jagged canonical Notch ligand 1

Clinical features


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