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prolidase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies.
Mondo Term and Equivalent IDs
MONDO:0008221:  prolidase deficiency
DOID:0111540: 
GARD:0007473: 
MESH:D056732: 
NCIT:C85029: 
Orphanet:742: 
SCTID:410055005: 
UMLS:C0268532: