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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Arterial calcification due to CD73 deficiency
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Overview


ACDC, or aterial calcification due to CD73 deficiency, is a rare, adult-onset vascular disorder.   Individuals with ACDC have calcium buildup in their arteries below the waist and in the joints of their hands and feet but not in the arteries of their heart.  Affected individuals can experience progressive pain and cramping in the calves, thighs, buttocks and feet due to poor circulation.  ACDC is caused by mutations in the NT5E gene.  It is inherited in an autosomal recessive manner.[1]
Last updated: 2/25/2011

References

  1. St Hilaire C, Ziegler SG, Markello TC, Brusco A, Groden C, et.al. NT5E mutations and arterial calcifications. N Engl J Med http://www.ncbi.nlm.nih.gov/pubmed/21288095. February 3, 2011;
Your Questions Answered
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Please contact us with your questions about ACDC. We will answer your question and update these pages with new resources and information.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss ACDC. Click on the link to view a sample search on this topic.