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 1 - 10 of 70 in total
HPO ID HPO Term
HP:0000121 Nephrocalcinosis
HP:0000365 Hearing impairment
HP:0000381 Stapes ankylosis
HP:0000405 Conductive hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000410 Mixed hearing impairment
HP:0000573 Retinal hemorrhage
HP:0000630 Abnormal retinal artery morphology
HP:0000737 Irritability
HP:0000822 Hypertension
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