Details of Disease | DrugMAP

General Information of Disease (ID: DISPUOWK)

Disease Name	Prolidase deficiency
Synonyms	Imidodipeptidase deficiency; Peptidase deficiency; hyperimidodipeptiduria; prolidase deficiency
Definition	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 Hierarchy	DISE5GA0: Inborn disorder of peptide metabolism DISPUOWK: Prolidase deficiency
Disease Identifiers	MONDO ID MONDO_0008221 MESH ID D056732 UMLS CUI C0268532 OMIM ID 170100 MedGen ID 120647 Orphanet ID 742 SNOMED CT ID 360969006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PEPD	TTLZXI0	Strong	CausalMutation	[1]
PEPD	TTLZXI0	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PEPD	OT3LFY7S	Definitive	Autosomal recessive	[2]
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References

1	Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency.BMJ Case Rep. 2017 Jan 6;2017:bcr2016217329. doi: 10.1136/bcr-2016-217329.
2	Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. J Biol Chem. 1990 Jul 5;265(19):11306-11.