Reynolds syndrome

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Reynolds syndrome2016-11-27T22:40:04+00:00

Reynolds syndrome 

HEPATOLOGY

Definition A condition (OMIM:613471) characterised by primary biliary cirrhosis (pruritis, jaundice, hepatomegaly, elevated serum alkaline phosphatase and positive serum mitochondrial autoantibodies), limited scleroderma, telangiectasia, and Raynaud phenomenon.

Molecular pathology Defects in LBR, which encodes lamin B receptor that is thought to mediate interaction between chromatin and lamin B, has been linked to Reynolds syndrome.  

Synonym Primary biliary cirrhosis—scleroderma—Raynaud disease—and telangiectasia

References http://www.uniprot.org/uniprot/Q14739

http://www.omim.org/entry/613471

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