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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

Classification level: Disorder
  • 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: -

Detailed information

Professionals

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.