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Autosomal recessive hypophosphatemic rickets

Disease definition

A rare, autosomal recessive renal phosphate-wasting disorder characterized by childhood-onset hypophosphatemia that clinically manifests with rickets and/or osteomalacia, slow growth/short stature, bone pain and skeletal deformities. Additional findings may include fatigue, muscle weakness and repeated bone fractures.

ORPHA:289176

Classification level: Disorder
  • Synonym(s):
    • ARHR
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: E83.3
  • ICD-11: 5C63.22
  • OMIM: 241520  613312
  • UMLS: C0342643
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2022) Français (2022) Nederlands (2022) Deutsch (2012) Português (2012) Italiano (2012) Polski ()

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Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.