KEGG   DISEASE: Calcification of joints and arteries
Entry
H00824                      Disease                                

Name
Calcification of joints and arteries
Description
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.
Category
Developmental disorder; Cardiovascular disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Vascular diseases
   H00824  Calcification of joints and arteries
Pathway
hsa00230  Purine metabolism
hsa00240  Pyrimidine metabolism
hsa00760  Nicotinate and nicotinamide metabolism
hsa01100  Metabolic pathways
Gene
NT5E [HSA:4907] [KO:K19970]
Other DBs
MeSH: C565891
OMIM: 211800
Reference
  Authors
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
  Title
NT5E mutations and arterial calcifications.
  Journal
N Engl J Med 364:432-42 (2011)
DOI:10.1056/NEJMoa0912923
LinkDB

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