Prolidase deficiency

Orpha code: 742OMIM code: 170100

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.

Disease data
Classification

Disease

Synonyms
Hyperimidodipeptiduria
Hiperimidodipeptiduria
ORPHA code
742
OMIM code
170100
ICD10 code
E72.8
ICD11 code
5C50.F0

No additional description.

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