This condition is caused by mutations in the 5'-Nucleotidase Ecto (NT5E) gene. This gene is found on the long arm of chromosome 6 (6q14.3). The protein hydrolyies extracellular adenosine monophosphate. It is found on the cell surface of many cell types. The protein is also known as<unk> . It acts as a homodimer and functions in conjunction with in concert with ectonucleoside triphosphate diphosphohydrolase-1 (ENTPD1) also known as CD39.This condition is inherited in an autosomal recessive fashion.
Arterial calcification due to CD73 deficiency
Microdamage in bone
Progressive osseous heteroplasia
Metastatic calcification
Disorders of calcium metabolism
Steroid-induced osteoporosis
Vitamin D deficiency
Secondary malignant neoplasm