What is the definition of Aagenaes Syndrome?

Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities. At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q. This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.

What are the alternative names for Aagenaes Syndrome?

  • Cholestasis lymphedema syndrome
  • CHLS
  • LCS
  • LCS1
  • Lymphedema cholestasis syndrome

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