arterial calcification of infancy

Summary
Synonym
  • generalized arterial calcification of infancy
  • idiopathic infantile arterial calcification
  • infantile arteriosclerosis
Definition
A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.
Super Class
artery disease
External Links
Disease Ontology
DOID:0050644
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4907 NT5E 5'-nucleotidase ecto
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
18605 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
85496 Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 70 in total
HPO ID HPO Term
HP:0000951 Abnormality of the skin
HP:0000961 Cyanosis
HP:0000969 Edema
HP:0001102 Angioid streaks of the fundus
HP:0001250 Seizure
HP:0001297 Stroke
HP:0001384 Abnormal hip joint morphology
HP:0001531 Failure to thrive in infancy
HP:0001541 Ascites
HP:0001561 Polyhydramnios
Displaying 1 entry
Gene ID Gene Symbol Description
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024