Arterial calcification, generalized, of infancy, 1
Arterial calcification, generalized, of infancy, 1
Definition
An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.
Also known as arterial calcification of infancy caused by mutation in ENPP1, arterial calcification, generalized, of infancy, 1, arterial calcification, generalized, of infancy, type 1, ENPP1 arterial calcification of infancy, generalised arterial calcification of infancy 1, generalized arterial calcification of infancy 1 — per MONDO