Aagenaes Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare genetic syndrome which occurs primarily among individuals of Norwegian descent with an autosomal recessive pattern of inheritance. It is caused, in some cases, by the inheritance of a mutation of the LSC1 gene on chromosome 15. Clinical signs include lymphedema of the lower extremities and cholestasis. The clinical course includes giant-cell hepatitis and progression to cirrhosis.

**Synonyms:** - CHLS - Cholestasis-Lymphedema Syndrome - LCS - LCS1 - Lymphedema-Cholestasis Syndrome - Lymphedema-Cholestasis Syndrome 1