Calcification of joints and arteries

Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E encoding CD73 that converts AMP to adenosine.

Vascular disease

NT5E [HSA:4907] [KO:K01081]

PMID:21288095 (description, gene)

St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, Gill F, Carlson-Donohoe H, Lederman RJ, Chen MY, Yang D, Siegenthaler MP, Arduino C, Mancini C, Freudenthal B, Stanescu HC, Zdebik AA, Chaganti RK, Nussbaum RL, Kleta R, Gahl WA, Boehm M

NT5E mutations and arterial calcifications.

N Engl J Med 364:432-42 (2011)