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Hereditary hypophosphatemic rickets with hypercalciuria

Disease definition

A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.

ORPHA:157215

Classification level: Disorder
  • Synonym(s):
    • HHRH
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: E83.3
  • OMIM: 241530
  • UMLS: C1853271
  • MeSH: C562793
  • GARD: -
  • MedDRA: -

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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