dyschromatosis symmetrica hereditaria

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dyschromatosis symmetrica hereditaria2016-11-25T18:44:41+00:00

dyschromatosis symmetrica hereditaria

GENETICS

Definition An autosomal dominant pigmentary genodermatosis (OMIM:127400) characterised by hyper- and hypopigmented macules on the face and dorsum of hands and feet, that first appear in infancy or early childhood.

Molecular pathology Defects of ADAR, which encodes adenosine deaminase—RNA-specific, the enzyme responsible for RNA editing by site-specific deamination of adenosines, converting adenosine to inosine (A-to-I RNA editing), cause dyschromatosis symmetrica hereditaria. 

Synonynms Reticulate acropigmentation of Dohi, symmetric acropigmentation of the extremitites, symmetric dyschromatosis of the extremitites 

Reference http://www.uniprot.org/uniprot/P55265 

http://www.omim.org/entry/127400 

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