prolidase deficiency

Term ID

DOID:0111540

Synonyms

• hyperimidodipeptiduria
• imidodipeptidase deficiency
• peptidase deficiency

Definition

An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. (3)

References

• GARD:7473
• MESH:D056732
• NCI:C85029
• OMIM:170100
• ORDO:742
• SNOMEDCT_US_2023_03_01:360994007
• UMLS_CUI:C0268532

Ontology

Human Disease   ( DOID:0111540 )