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Disease definition

A rare, genetic metabolic disorder characterized by reduced activity of unfractionated serum alkaline phosphatase (ALP) and various symptoms from life-threatening, severely impaired mineralization at birth to musculo-skeletal pain in adulthood.


Classification level: Disorder
  • Synonym(s):
    • HPP
    • Phosphoethanolaminuria
    • Rathbun disease
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E83.3
  • ICD-11: 5C64.3
  • OMIM: 146300  241500  241510
  • UMLS: C0020630
  • MeSH: D007014
  • GARD: 6734
  • MedDRA: 10049933

Detailed information

General public


Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM

Genetic Testing

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