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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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. The age of onset has been reported as early as the second decade of life. ACDC is caused by mutations in the NT5E gene and is inherited in an autosomal recessive manner.
Last updated: 10/15/2014
- St Hilaire C, et. al. NT5E mutations and arterial calcifications. N Engl J Med. February 3, 2011; 364(5):432-442.
- NT5E. Genetics Home Reference. October 9, 2014; http://ghr.nlm.nih.gov/gene/NT5E. Accessed 10/15/2014.
- 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.
- NIH researchers identify genetic cause of new vascular disease.
Rare disease is first discovered in Undiagnosed Diseases Program