GTR Home > Conditions/Phenotypes > Alagille syndrome 2

Disease characteristics

Excerpted from the GeneReview: Alagille Syndrome
Alagille syndrome (ALGS) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The clinical features are highly variable, even within families. The major clinical manifestations of ALGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. Mortality is approximately 10%, with vascular accidents, cardiac disease, and liver disease accounting for most of the deaths.

Available tests

12 tests are in the database for this condition. Compare labs offering these tests.

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Associated genes

Clinical features

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  • Triangular face
  • Broad forehead
  • Peripheral pulmonary artery stenosis
  • Renal insufficiency
  • Cholestasis
  • Defect in the atrial septum
  • Renal tubular acidosis
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