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
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of arteries or arterioles
   BD52  Certain specified disorders of arteries or arterioles
    H00824  Calcification of joints and arteries
Pathway
hsa00230  Purine metabolism
hsa00240  Pyrimidine metabolism
hsa00760  Nicotinate and nicotinamide metabolism
Gene
NT5E [HSA:4907] [KO:K19970]
Other DBs
ICD-11: BD52.Y
MeSH: C565891
OMIM: 211800
Reference
PMID:21288095
  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
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