Arterial calcification due to CD73 deficiency

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

Calcification of joints and arteries
This condition is inherited via autosomal recessive manner
Causesmutations in the NT5E gene

Presentation

This condition is characterised by calcifcation of the periferal arteries[2]. The lower limbs are more commonly affected than the upper limbs. This may be clinically slient but may also present with ischemia of the affected limb(s).

Genetics

This condition is caused by mutations in the 5'-Nucleotidase Ecto (NT5E) gene.[3] This gene is found on the long arm of chromosome 6 (6q14.3). The protein hydrolyies extracellular adenosine monophosphate. It is found on the cell surface of many cell types. The protein is also known as CD73. It acts as a homodimer and functions in conjunction with in concert with ectonucleoside triphosphate diphosphohydrolase-1 (ENTPD1) also known as CD39.This condition is inherited in an autosomal recessive fashion.

Diagnosis

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

Incidence

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]

References
  1. Nitschke Y, Rutsch F (2012) Genetics in arterial calcification: Lessons learned From rare diseases. Trends Cardiovasc Med 22(6):145-149
  2. "OMIM Entry - # 211800 - CALCIFICATION OF JOINTS AND ARTERIES; CALJA". www.omim.org. Retrieved 19 June 2020.
  3. Kordaß T, Osen W and Eichmüller SB (2018) Controlling the immune suppressor: Transcription factors and microRNAs regulating CD73/NT5E Front. Immunol
  4. "ACDC | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 19 June 2020.
  5. "Orphanet: Hereditary arterial and articular multiple calcification syndrome". www.orpha.net. Retrieved 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 (2011) NT5E mutations and arterial calcifications. N Engl J Med 364(5):432-42


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