Last update 21 Mar 2024

Aagenaes Syndrome

Basic Info

Synonyms
AAGENAES SYNDROME, Aagenaes Syndrome, Aagenaes syndrome
+ [23]
Introduction
A rare genetic syndrome which occurs primarily among individuals of Norwegian descent with an autosomal recessive pattern of inheritance. It is caused, in some cases, by the inheritance of a mutation of the LSC1 gene on chromosome 15. Clinical signs include lymphedema of the lower extremities and cholestasis. The clinical course includes giant-cell hepatitis and progression to cirrhosis.

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