Arterial Calcification, Generalized, of Infancy, 1 (GACI1)

Alias:
Idiopathic Infantile Arterial Calcification
Gaci1
Gaci
Iiac
Calcification, Arterial, Generalized, Infancy, Type 1
Arterial Calcification of Infancy, Generalized, 1
Generalized Arterial Calcification of Infancy
Arterial Calcification, Idiopathic Infantile
Arteriopathy, Occlusive Infantile
Arterial Calcification of Infancy
Occlusive Infantile Arteriopathy
Vascular Calcification
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arterial Calcification, Generalized, of Infancy, 1, also known as idiopathic infantile arterial calcification, is related to arterial calcification, generalized, of infancy, 2 and pseudoxanthoma elasticum. An important gene associated with Arterial Calcification, Generalized, of Infancy, 1 is ENPP1 (Ectonucleotide Pyrophosphatase/Phosphodiesterase 1). The drugs Ethanol and Fluindione have been mentioned in the context of this disorder. Affiliated tissues include heart and kidney, and related phenotypes are short stature and hypophosphatemic rickets
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
11
29

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
Function
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
Journal
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IF
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