Aagenaes syndrome

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Name = Aagenaes syndrome


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DiseasesDB = 32129
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A syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts¹.

The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q^1,2. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin¹. The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the U.S.². It is named after Oystein Aagenaes, a Norwegian paediatrician.

Also called cholestasis-lymphedema syndrome (CLS).

References

¹Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB (2000) Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.Am J Hum Genet. 2000 Oct;67(4):994-9. Epub 2000 Aug 30.

²Heiberg A (2001) Aagenaes syndrome: lymphedema and intrahepatic cholestasis.Tidsskr Nor Laegeforen. 2001 May 30;121(14):1718-9.