Aagenaes Syndrome

Common Name(s)

Aagenaes Syndrome

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.
 

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Condition Specific Organizations

Following organizations serve the condition "Aagenaes Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aagenaes Syndrome" returned 3 free, full-text research articles on human participants. First 3 results:

[Aagenaes syndrome--lymphedema and intrahepatic cholestasis].
 

Author(s): A Heiberg

Journal: Tidsskr. Nor. Laegeforen.. 2001 May;121(14):1718-9.

 

The combination of neonatal intrahepatic cholestasis and lymphoedema in feet and legs is a specific syndrome named after the Norwegian paediatrician Øystein Aagenaes, who described the syndrome in 1968. The condition is autosomal recessively inherited and the gene is located to 15q, ...

Last Updated: 11 Jul 2001

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Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.
 

Author(s): L N Bull, E Roche, E J Song, J Pedersen, A S Knisely, C B van Der Hagen, K Eiklid, O Aagenaes, N B Freimer

Journal: Am. J. Hum. Genet.. 2000 Oct;67(4):994-9.

 

Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of CLS is unknown. We performed a genome screen, using DNA from eight ...

Last Updated: 24 Oct 2000

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Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
 

Author(s): A A Morris, J S Sequeira, M Malone, S F Slaney, P T Clayton

Journal: J. Med. Genet.. 1997 Oct;34(10):852-3.

 

We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.

Last Updated: 9 Dec 1997

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Reviews from the PubMed Database

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The terms "Aagenaes Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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