Arterial calcification due to CD73 deficiency
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{{Infobox medical condition (new)
| name = Arterial calcification due to CD73 deficiency
| synonyms = Calcification of joints and arteries
| image = Autosomal recessive - en.svg
| caption = This condition is inherited via autosomal recessive manner
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| causes = mutations in the NT5E gene
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Arterial calcification due to CD73 deficiency or Calcification of joints and arteries is a rare genetic disorder affecting adults.{{Cite journal |vauthors=Nitschke Y, Rutsch F |date=August 2012 |title=Genetics in arterial calcification: lessons learned from rare diseases |journal=Trends in Cardiovascular Medicine |publisher=Elsevier BV |volume=22 |issue=6 |pages=145–149 |doi=10.1016/j.tcm.2012.07.011 |pmid=23122642}}
Signs and symptoms
This condition is characterised by calcification of the peripheral arteries.{{Cite web |title=Calcification of Joints and Arteries; CALJA |url=https://www.omim.org/entry/211800 |access-date=19 June 2020 |website=Online Mendelian Inheritance in Man |id=OMIM Entry - # 211800}}
Causes
This condition is caused by mutations in the 5'-Nucleotidase Ecto (NT5E) gene.{{Cite journal |vauthors=Kordaß T, Osen W, Eichmüller SB |date=2018-04-18 |title=Controlling the Immune Suppressor: Transcription Factors and MicroRNAs Regulating CD73/NT5E |journal=Frontiers in Immunology |publisher=Frontiers Media SA |volume=9 |pages=813 |doi=10.3389/fimmu.2018.00813 |pmc=5915482 |pmid=29720980 |doi-access=free}}
Diagnosis
Medical evaluation and genetic test are used to ascertain Arterial calcification due to CD73 deficiency{{Cite web |title=ACDC |url=https://rarediseases.info.nih.gov/diseases/10762/disease |access-date=19 June 2020 |website=Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |publisher=U.S. National Institutes of Health}}
Epidemiology
This a rare disorder, up to 2020 less than 20 individuals have been reported to have the condition{{Cite web |title=Hereditary arterial and articular multiple calcification syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289601 |access-date=19 June 2020 |website=Orphanet}}