Arterial calcification due to CD73 deficiency


Type of disease: Genetic, autosomal recessive | Adult | Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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