Arterial Calcification of Infancy (GACI)

Alias:
Generalized Arterial Calcification of Infancy
Idiopathic Infantile Arterial Calcification
Occlusive Infantile Arteriopathy
Idiopathic Obliterative Arteriopathy
Infantile Arteriosclerosis
Gaci
Iiac
Diffuse Arterial Calcifying Elastopathy of Infancy
Calcification, Arterial, Generalized, Infancy
Coronary Sclerosis, Medial, of Infancy
Medial Coronary Sclerosis of Infancy
Arteriopathia Calcificans Infantum
Infantile Calcifying Arteriopathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arterial Calcification of Infancy, also known as generalized arterial calcification of infancy, is related to calcification of joints and arteries and pseudoxanthoma elasticum. An important gene associated with Arterial Calcification of Infancy is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1), and among its related pathways/superpathways are Metabolism of proteins and Glucose / Energy Metabolism. The drugs Cholecalciferol and Calcitriol have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are calcification of the aorta and hepatic calcification
Related ID:
MESH:C537440

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Antenatal
--
23
236
59

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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