Orphanet: Infantile hypophosphatasia
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Infantile hypophosphatasia

Disease definition

A rare, severe, genetic form of hypophosphatasia (HPP) characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization.

ORPHA:247651

Classification level: Subtype of disorder
  • Synonym(s):
    • Infantile Rathbun disease
    • Infantile phosphoethanolaminuria
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E83.3
  • OMIM: 241500
  • UMLS: C0268412
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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