PEPD, peptidase D, 5184

N. diseases: 113; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 CausalMutation disease CLINVAR Hyperbaric oxygen therapy in the management of severe leg ulcers from prolidase deficiency. 28062424 2017
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease BEFREE We report a novel 3 bp insertion in the 12th exon of the PEPD gene in two Kashmiri siblings with prolidase deficiency phenotype. 23287645 2013
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease CLINVAR Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. 23516557 2013
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 CausalMutation disease CLINVAR Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue. 23516557 2013
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 CausalMutation disease CLINVAR A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. 19308961 2010
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 Biomarker disease GENOMICS_ENGLAND A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. 19308961 2010
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GermlineCausalMutation disease ORPHANET Prolidase deficiency is a rare recessive disorder caused by mutations in the prolidase gene and characterized by severe skin lesions. 18340504 2008
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease BEFREE Homozygous mutations in PEPD are responsible for the autosomal-recessive prolidase deficiency which resembles HIES in some aspects. 18000661 2007
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 Biomarker disease CTD_human A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease BEFREE A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome. 16681595 2006
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease BEFREE Prolidase deficiency (PD) is a rare autosomal recessive connective tissue disorder caused by mutations in the prolidase gene. 17142620 2006
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 Biomarker disease GENOMICS_ENGLAND A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 CausalMutation disease CLINVAR Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same family. 17142620 2006
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease BEFREE A nonsense mutation of PEPD in four Amish children with prolidase deficiency. 16470701 2006
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease CLINVAR Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. 15309682 2004
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 Biomarker disease GENOMICS_ENGLAND Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship. 15309682 2004
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 CausalMutation disease CLINVAR Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. 12384772 2002
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease UNIPROT Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. 12384772 2002
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 CausalMutation disease CLINVAR Expression and molecular analysis of mutations in prolidase deficiency. 8900231 1996
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease UNIPROT Expression and molecular analysis of mutations in prolidase deficiency. 8900231 1996
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease UNIPROT Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles. 8198124 1994
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 CausalMutation disease CLINVAR Our results indicate that the severe form of prolidase deficiency is caused by multiple PEPD alleles. 8198124 1994
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease BEFREE Identification of mutations in the PEPD gene from subjects with prolidase deficiency provides further insight into the physiological role and structure-function relationship of this biologically important enzyme. 2010534 1991
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 GeneticVariation disease UNIPROT A single nucleotide change in the prolidase gene in fibroblasts from two patients with polypeptide positive prolidase deficiency. Expression of the mutant enzyme in NIH 3T3 cells. 2365824 1990
CUI: C0268532
Disease: Deficiency of prolidase
Deficiency of prolidase 		0.760 Biomarker disease CTD_human Structural organization of the gene for human prolidase (peptidase D) and demonstration of a partial gene deletion in a patient with prolidase deficiency. 1972707 1990