arterial calcification, generalised, of infancy type 1
arterial calcification, generalised, of infancy type 1An autosomal recessive disorder (OMIM:208000) characterised by calcification of medium to large arteries, myointimal proliferation resulting in arterial stenosis, and focal periarticular calcification. Most die in early infancy from myocardial infarction, congestive heart failure or hypertension due to vascular occlusion.
Caused by loss of function mutations in ENPP1, which encodes a transmembrane glycoprotein that regulates soft tissue calcium and bone and joint cartilage mineralisation by generating pyrophosphate (PPi), a physiological inhibitor of hydroxyapatite crystal formation and a suppressor of chondrogenesis.
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