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GTR Home > Tests > Hypercalcemia, infantile: Full gene sequencing panel

Indication

This is a clinical test intended for Help: Diagnosis, Risk Assessment, Mutation Confirmation

Clinical summary

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Imported from OMIM

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.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Dehydration
  • Hypercalcemia
  • Hypercalciuria
  • Lethargy
  • Hypotonia
  • Nephrocalcinosis
  • Polyuria
  • Vomiting
  • Nephrolithiasis
  • Medullary nephrocalcinosis
  • Decreased circulating parathyroid hormone level
  • Weight loss
  • Failure to thrive
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Inheritance pattern

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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