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Diseases

Genetic and Rare Diseases Information Center (GARD)

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ACDC


Other Names for this Disease

  • Arterial calcification and distal joint calcification
  • Arterial calcification due to CD73 deficiency
  • Arterial calcification due to deficiency of CD73
  • Calcification of joints and arteries; CALJA
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Overview

Arterial calcification due to deficiency of CD73, or ACDC, is a rare, adult-onset vascular disorder. People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet. Signs and symptoms may include progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands.[1][2] The age of onset has been reported as early as the second decade of life.[2] ACDC is caused by mutations in the NT5E gene and is inherited in an autosomal recessive manner.[1]
Last updated: 10/15/2014

References

  1. St Hilaire C, et. al. NT5E mutations and arterial calcifications. N Engl J Med. February 3, 2011; 364(5):432-442.
  2. NT5E. Genetics Home Reference. October 9, 2014; http://ghr.nlm.nih.gov/gene/NT5E. Accessed 10/15/2014.
Your Questions Answered
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1 question(s) from the public on ACDC have been answered. See questions and answers. You can also submit a new question.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.

Press Releases

Other Names for this Disease
  • Arterial calcification and distal joint calcification
  • Arterial calcification due to CD73 deficiency
  • Arterial calcification due to deficiency of CD73
  • Calcification of joints and arteries; CALJA
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.