National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

ACDC


Other Names:
Arterial calcification due to CD73 deficiency; Arterial calcification due to deficiency of CD73; Calcification of joints and arteries; CALJA; Arterial calcification due to CD73 deficiency; Arterial calcification due to deficiency of CD73; Calcification of joints and arteries; CALJA; Arterial calcification and distal joint calcification See More
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormal joint morphology
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints
[ more ] 		0001367
Abnormality of the vertebral column
Abnormal spine
Abnormal vertebral column
Abnormality of the spine
[ more ] 		0000925
Arterial calcification 0003207
Autosomal recessive inheritance 0000007
Ectopic ossification 0011986
Periarticular calcification 0025477
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Last updated: 7/1/2020
We are unaware of published diagnostic criteria for ACDC. However, in the past, a diagnosis of ACDC has been made by a combination of a thorough medical evaluation and genetic test results. Medical evaluations of people diagnosed with ACDC have ruled out other causes of leg and joint discomfort, such as rheumatoid arthritis or other joint-related problems. MRIs and x-rays of the vasculature of those affected have indicated calcium deposits in artery walls. Genetic testing in an affected person would identify mutations in the NT5E gene, which are the underlying genetic cause of ACDC.[3]
Last updated: 10/16/2014
Due to the rarity of this condition, there is very limited information available in the medical literature. We are not aware of specific treatment recommendations for ACDC, or of any therapies currently known to be effective. One affected individual reportedly was treated with surgeries to reroute blood flow through alternate vessels and had a joint amputation in the foot.[3] Several possible future therapies have been proposed.[1] Research is currently under way to investigate possible treatment options.

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. Click here to find trials relating to ACDC. This site may be checked often for new studies, as it is updated regularly.
Last updated: 10/15/2014

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to ACDC. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What testing is done to confirm diagnosis and what is the recommended treatment? See answer


  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.
  3. NIH researchers identify genetic cause of new vascular disease. National Institutes of Health, NIH News. February, 2011; http://rarediseases.info.nih.gov/files/NIH%20ArterialCalcNEJM-final.pdf. Accessed 10/16/2014.