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Arterial calcification, generalized, of infancy, 1
rareAn 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.
- Identifiers
- MONDO:0008817 OMIM:208000
- 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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