Proline dehydrogenase deficiency
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
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 |
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 |
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 |
Proline dehydrogenase deficiency
|
0.770 |
Biomarker
|
disease |
BEFREE |
Hyperprolinemia type I (HPI) is a result of a deficiency in POX.
|
18806117 |
2008 |
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 |
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 |
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 |
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 |
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 |
Proline dehydrogenase deficiency
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
|
12217952 |
2002 |
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 |
Proline dehydrogenase deficiency
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
|
12217952 |
2002 |
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 |
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 |
Proline dehydrogenase deficiency
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
Proline dehydrogenase deficiency
|
0.770 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Proline dehydrogenase deficiency
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Proline dehydrogenase deficiency
|
0.770 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|