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Hypophosphatasia

Disease definition

Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia).

ORPHA:436

  • Synonym(s):
    • HPP
    • Phosphoethanolaminuria
    • Rathburn disease
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E83.3
  • OMIM: 146300  241500  241510
  • UMLS: C0020630
  • MeSH: D007014
  • GARD: 6734
  • MedDRA: 10049933

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