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Arterial calcification, generalized, of infancy, 1

rare

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.

Causal genes
ENPP1
Also known as
arterial calcification of infancy caused by mutation in ENPP1 · arterial calcification, generalized, of infancy, type 1 · ENPP1 arterial calcification of infancy · GACI1 · generalised arterial calcification of infancy 1

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