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Familial hypocalciuric hypercalcemia

Disease definition

Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.

ORPHA:405

  • Synonym(s):
    • FBH
    • FBHH
    • FHH
    • Familial benign hypercalcemia
    • Familial benign hypocalciuric hypercalcemia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: E83.5
  • OMIM: 145980  145981  600740
  • UMLS: -
  • MeSH: -
  • GARD: 10828
  • MedDRA: -

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