arterial calcification, generalized, of infancy, 1
Rare DiseaseMONDO:0008817
Also Known As
ENPP1 arterial calcification of infancyarterial calcification of infancy caused by mutation in ENPP1arterial calcification, generalized, of infancy, 1arterial calcification, generalized, of infancy, type 1generalised arterial calcification of infancy 1generalized arterial calcification of infancy 1GACI1Gaciarterial calcification, idiopathic infantilearteriopathy, occlusive infantilecoronary sclerosis, medial, of infancyidiopathic infantile arterial calcification
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.