Prolidase deficiency

Orpha code: 742OMIM code: 170100

Definicja

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
Klasyfikacja

Disease

Synonimy
Hyperimidodipeptiduria
Hiperimidodipeptiduria
Kod ORPHA
742
Kod OMIM
170100
Kod ICD10
E72.8
Kod ICD11
5C50.F0

No additional description.

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