Alagille syndrome

Alagille syndrome (AGS) is a congenital genetic multi-system disorder.

Infants typically present with symptoms relating to the liver where is it one of the most common causes of hereditary cholestasis.

Genetics

AGS is inherited in an autosomal fashion with a mutation of the JAG1 (90%) and NOTCH2 (1-2%) genes, located in the short arm of chromosome 20. Microdeletion of 20p12 is seen in ~7.5% of patients 6.

The spectrum of disease in AGS is diverse:

Named after Daniel Alagille, the French paediatrician (1925-2005) who first described it.

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Article Information

rID: 9708
System: Paediatrics
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Arteriohepatic dysplasia

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