This website provides information on patients with mutations in the ENPP1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ENPP1 gene is a multisystem disorder characterized by extensive calcification of large- and medium-sized arteries, and/or narrowing of large- and medium-sized arteries even in the absence of calcification, leading to complications such as cardiac failure, cerebrovascular accident, or hypertension in a significant number of infants. Periarticular calcification is seen in about one third of patients. Mortality is high in the first 6 months of life, but decreases dramatically afterwards. For children who survive, development of rickets is a frequent finding.
Not all individuals with a mutation in the ENPP1 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ENPP1 gene.
Carlos R. Ferreira, MD, Children’s National Health System, Washington, DC, firstname.lastname@example.org