Aagenaes syndrome

Disease Overview

Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[5485][5486] At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.[5487] This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.[5486]

Synonyms

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