arterial calcification, generalised, of infancy type 1

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arterial calcification, generalised, of infancy type 1

An 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.

Molecular pathology
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.
References in periodicals archive ?
Also, the memberships (approximately 30 percent) of ACADEF and GACI overlapped, as did many of their activities.
So the boards of both associations agreed to a one-year trial period of joint ACADEF and GACI operations, which began in January 1992.
Patients with GACI suffer from calcification of the medium and large arteries leading to arterial narrowing and heart failure.
SBC-105 offers the potential to positively affect the abnormal calcification process associated with GACI and other disorders associated with pathological calcification," said Anthony Quinn, MBChB, Ph.