Arterial calcification due to CD73 deficiency explained

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