Arterial calcification due to CD73 deficiency explained

Arterial calcification due to CD73 deficiency
Synonyms:Calcification of joints and arteries
Causes:mutations in the NT5E gene

Arterial calcification due to CD73 deficiency or Calcification of joints and arteries is a rare genetic disorder affecting adults.[1]

Signs and symptoms

This condition is characterised by calcification of the peripheral arteries.[2]

Causes

This condition is caused by mutations in the 5'-Nucleotidase Ecto (NT5E) gene.[3]

Diagnosis

Medical evaluation and genetic test are used to ascertain Arterial calcification due to CD73 deficiency[4]

Epidemiology

This a rare disorder, up to 2020 less than 20 individuals have been reported to have the condition[5]

History

This condition was first described in 2011.[6]

Notes and References

  1. Nitschke Y, Rutsch F . Genetics in arterial calcification: lessons learned from rare diseases . Trends in Cardiovascular Medicine . 22 . 6 . 145–149 . August 2012 . 23122642 . 10.1016/j.tcm.2012.07.011 . Elsevier BV .
  2. Web site: OMIM Entry - # 211800 . Calcification of Joints and Arteries; CALJA . Online Mendelian Inheritance in Man . 19 June 2020.
  3. Kordaß T, Osen W, Eichmüller SB . Controlling the Immune Suppressor: Transcription Factors and MicroRNAs Regulating CD73/NT5E . Frontiers in Immunology . 9 . 813 . 2018-04-18 . 29720980 . 5915482 . 10.3389/fimmu.2018.00813 . Frontiers Media SA . free .
  4. Web site: ACDC . Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . U.S. National Institutes of Health . 19 June 2020.
  5. Web site: Orphanet . Hereditary arterial and articular multiple calcification syndrome . 19 June 2020.
  6. 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 . The New England Journal of Medicine . 364 . 5 . 432–442 . February 2011 . 21288095 . 10.1056/nejmoa0912923 . Massachusetts Medical Society . 2318/88894 . free .

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