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Genetic and Rare Diseases Information Center (GARD)

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Aagenaes syndrome


Other Names for this Disease
  • CHLS
  • Cholestasis lymphedema syndrome
  • LCS
  • LCS1
  • Lymphedema cholestasis syndrome
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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]
Last updated: 9/13/2012

References

  1. 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 9/13/2012.
  2. 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 9/13/2012.
  3. Cholestasis-Lymphedema Syndrome. Online Mendelian Inheritance in Man (OMIM). 2007; http://omim.org/entry/214900. Accessed 9/13/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.