Orphanet: Autosomal recessive infantile hypercalcemia

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Autosomal recessive infantile hypercalcemia

Disease definition

A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.


Classification level: Disorder
  • Synonym(s):
    • Familial infantile hypercalcemia with suppressed intact parathyroid hormone
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E83.5
  • OMIM: 143880  616963
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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