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Prolidase deficiency

Disease definition

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

ORPHA:742

  • Synonym(s):
    • Hyperimidodipeptiduria
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy, Childhood, Adolescent, Adult
  • ICD-10: E72.8
  • OMIM: 170100
  • UMLS: C0268532  C1534653
  • MeSH: D056732
  • GARD: 7473
  • MedDRA: -

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