Print friendly version
Aagenaes syndrome
Other Names for this Disease
- CHLS
- Cholestasis lymphedema syndrome
- LCS
- LCS1
- Lymphedema cholestasis syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
Overview
Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[1][2] At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.[3] This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.[2]
References
- Dang S, Sigal Y, Davies D. Recurrent cellulitis in a case of Aagenaes syndrome. Clin Pediatr (Phila). 2009. http://www.ncbi.nlm.nih.gov/pubmed/19498211. Accessed September 13, 2012.
- Drivdal M, Trydal T, Hagve TA, Bergstad I, Aagenaes O. Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). Scand J Gastroenterol. 2006. http://www.ncbi.nlm.nih.gov/pubmed/16635916. Accessed September 13, 2012.
- Cholestasis-Lymphedema Syndrome. Online Mendelian Inheritance in Man (OMIM). http://omim.org/entry/214900. Accessed September 13, 2012.
Your Questions Answered
by the Genetic and Rare Diseases Information CenterPlease contact us with your questions about Aagenaes syndrome. We will answer your question and update these pages with new resources and information.
On this page
General Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aagenaes syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aagenaes syndrome. Click on the link to go to OMIM and review these resources.