PRODH, proline dehydrogenase 1, 5625

N. diseases: 85; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 Biomarker disease BEFREE Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. 17412540 2007
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease UNIPROT Finally, from the extensive analysis of the PRODH gene coding sequence variations, it is predicted that POX residual activity in the 0-30% range results into HPI, whereas residual activity in the 30-50% range is associated either with normal plasma proline levels or with mild-to-moderate hyperprolinemia. 17135275 2007
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 Biomarker disease GENOMICS_ENGLAND We screened four Italian children with HPI presenting epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotype-phenotype correlation. 18197084 2008
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease UNIPROT At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies. 15662599 2005
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 Biomarker disease CTD_human
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 Biomarker disease GENOMICS_ENGLAND PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. 12217952 2002
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease CLINVAR
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 Biomarker disease BEFREE A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. 9385373 1997
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 CausalMutation disease CLINVAR
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease BEFREE These observations demonstrate that type I hyperprolinemia is present in a subset of schizophrenic patients, and suggest that the genetic determinism of type I hyperprolinemia is complex, the severity of hyperprolinemia depending on the nature and number of hits affecting the PRODH locus. 12217952 2002
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GermlineCausalMutation disease ORPHANET The goals of this study were first to measure in controls the frequency of PRODH variations described in HPI patients, second to assess the functional effect of PRODH mutations on POX activity, and finally to establish genotype/enzymatic activity correlations in a new series of HPI patients. 20524212 2010
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 Biomarker disease BEFREE Hyperprolinemia type I (HPI) is a result of a deficiency in POX. 18806117 2008
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease UNIPROT PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. 12217952 2002
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 SusceptibilityMutation disease CLINVAR
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease BEFREE Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. 8803768 1996
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GermlineCausalMutation disease ORPHANET Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11. 23462603 2013
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease BEFREE At least 16 PRODH missense mutations have been identified in studies of type I hyperprolinemia (HPI) and schizophrenia, 10 of which are present at polymorphic frequencies. 15662599 2005
CUI: C0268529
Disease: Proline dehydrogenase deficiency
Proline dehydrogenase deficiency
0.770 GeneticVariation disease BEFREE Finally, from the extensive analysis of the PRODH gene coding sequence variations, it is predicted that POX residual activity in the 0-30% range results into HPI, whereas residual activity in the 30-50% range is associated either with normal plasma proline levels or with mild-to-moderate hyperprolinemia. 17135275 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE Therefore, our study investigates the effects of 12 polymorphisms of PRODH on schizophrenia and its phenotypes. 24498354 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE We assessed the relationship between these high-risk PRODH polymorphisms and schizophrenia-related endophenotypes in a large and highly homogeneous cohort of healthy males. 19232576 2009
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease BEFREE Linkage disequilibrium mapping of the region in patients identified a segment containing two genes, proline dehydrogenase (PRODH) and DGCR6, as candidates [Liu et al., 2002a] and by analysis of additional polymorphisms the PRODH gene was associated with schizophrenia in adult and early onset patients. 15274030 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 AlteredExpression disease BEFREE Neither deletion extent nor PRODH haploinsufficiency appeared to explain the clinical expression of schizophrenia in the present study. 17028864 2007
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease LHGDN Our findings suggest a role for functional genetic variation in POX on neostriatal-frontal circuits mediating risk and protection for schizophrenia. 18989458 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.500 GeneticVariation disease LHGDN Linkage disequilibrium mapping of the region in patients identified a segment containing two genes, proline dehydrogenase (PRODH) and DGCR6, as candidates [Liu et al., 2002a] and by analysis of additional polymorphisms the PRODH gene was associated with schizophrenia in adult and early onset patients. 15274030 2004