arterial calcification, generalized, of infancy, 1
Findings
No curated finding names arterial calcification, generalized, of infancy, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008817), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal aortic calcificationHPOHP:0031313
- 2 of 2 reported patients
- CardiomegalyHPOHP:0001640
- 2 of 2 reported patients
- Carotid artery calcificationHPOHP:0031314
- 2 of 2 reported patients
- Congestive heart failureHPOHP:0001635
- 1 of 1 reported patient · Neonatal onset
- 1 of 2 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 1 reported patient · Neonatal onset
- Fetal distressHPOHP:0025116
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ENPP1HGNC:3356
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: arterial calcification, generalized, of infancy, 1
- Also called
- arterial calcification of infancy caused by mutation in ENPP1arterial calcification, generalized, of infancy, type 1ENPP1 arterial calcification of infancygeneralised arterial calcification of infancy 1generalized arterial calcification of infancy 1