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Alagille syndrome due to a JAG1 point mutation

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

319

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Genes

External Links

  • OMIM

    118450

  • Orphanet

    261619

  • HPO
  • Medgen

    C1956125

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