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GTR Home > Conditions/Phenotypes > Arterial calcification, generalized, of infancy, 1

Arterial calcification, generalized, of infancy, 1

Synonyms
Arterial Calcification, Generalized, of Infancy; Idiopathic infantile arterial calcification; Occlusive infantile arteriopathy

Summary

Excerpted from the GeneReview: Generalized Arterial Calcification of Infancy
Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Shira G Ziegler
William A Gahl
Carlos R Ferreira
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Available tests

45 tests are in the database for this condition.

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Clinical tests (45 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1, ENPP1
    Summary: ectonucleotide pyrophosphatase/phosphodiesterase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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