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GTR Home > Conditions/Phenotypes > Hypercalcemia, infantile, 1

Hypercalcemia, infantile, 1

Summary

Infantile hypercalcemia is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. An epidemic of idiopathic infantile hypercalcemia occurred in the United Kingdom in the 1950s after the implementation of an increased prophylactic dose of vitamin D supplementation; however, the fact that most infants receiving the prophylaxis remained unaffected suggested that an intrinsic hypersensitivity to vitamin D might be implicated in the pathogenesis (summary by Schlingmann et al., 2011). Genetic Heterogeneity Infantile hypercalcemia-2 (HCINF2; 616963) is caused by mutation in the SLC34A1 gene (182309) on chromosome 5q35. [from OMIM]

Available tests

31 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CP24, CYP24, HCAI, HCINF1, P450-CC24, CYP24A1
    Summary: cytochrome P450 family 24 subfamily A member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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