Aagenaes Syndrome

Overview

Type of disease: Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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