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arterial calcification, generalized, of infancy, 1

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • ENPP1 arterial calcification of infancy
  • GACI1
  • Gaci
  • arterial calcification of infancy caused by mutation in ENPP1
  • arterial calcification, generalized, of infancy, 1
  • arterial calcification, generalized, of infancy, type 1
  • arterial calcification, idiopathic infantile
  • arteriopathy, occlusive infantile
  • coronary sclerosis, medial, of infancy
  • generalised arterial calcification of infancy 1
  • generalized arterial calcification of infancy 1
  • idiopathic infantile arterial calcification
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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