Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
More than 25 different mutations in hPNPO, which result in reduced catalytic activity, have been described for PNPO-deficiency NEE.
|
31616300 |
2019 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.
|
28985901 |
2017 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.
|
27781031 |
2016 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency.
|
25256445 |
2014 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Pyridoxine responsiveness in novel mutations of the PNPO gene.
|
24658933 |
2014 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
|
24645144 |
2014 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
|
24266778 |
2014 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Seizures with decreased levels of pyridoxal phosphate in cerebrospinal fluid.
|
23419474 |
2013 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
|
21292558 |
2011 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
|
20370816 |
2010 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
|
15772097 |
2005 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
|
15772097 |
2005 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
|
15772097 |
2005 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Status Epilepticus
|
0.400 |
Biomarker
|
disease |
CTD_human |
Linear regression analysis identified a direct proportional relationship between PLK/PNPO immunoreactivity and normalized population spike amplitude ratio in the dentate gyrus and the CA1 region as excluded the data obtained from 4 weeks after SE.
|
19356691 |
2009 |
Global developmental delay
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.
|
15772097 |
2005 |
Status Epilepticus
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Global developmental delay
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Schizophrenia
|
0.310 |
Biomarker
|
disease |
BEFREE |
We hypothesized that the gene PNPO (pyridoxine 5'-phosphatase oxidase gene) might be a candidate for susceptibility to schizophrenia because PNPO encodes pyridoxamine 5'-phosphate oxidase (EC 1.4.3.5), a rate-limiting enzyme in pyridoxal 5'-phosphate (PLP, vitamin B(6)) synthesis.
|
17851041 |
2007 |
Schizophrenia
|
0.310 |
GeneticVariation
|
disease |
LHGDN |
We hypothesized that the gene PNPO (pyridoxine 5'-phosphatase oxidase gene) might be a candidate for susceptibility to schizophrenia because PNPO encodes pyridoxamine 5'-phosphate oxidase (EC 1.4.3.5), a rate-limiting enzyme in pyridoxal 5'-phosphate (PLP, vitamin B(6)) synthesis.
|
17851041 |
2007 |
Schizophrenia
|
0.310 |
Biomarker
|
disease |
PSYGENET |
We hypothesized that the gene PNPO (pyridoxine 5'-phosphatase oxidase gene) might be a candidate for susceptibility to schizophrenia because PNPO encodes pyridoxamine 5'-phosphate oxidase (EC 1.4.3.5), a rate-limiting enzyme in pyridoxal 5'-phosphate (PLP, vitamin B(6)) synthesis.
|
17851041 |
2007 |
Petit mal status
|
0.300 |
Biomarker
|
disease |
CTD_human |
Enhanced pyridoxal 5'-phosphate synthetic enzyme immunoreactivities do not contribute to GABAergic inhibition in the rat hippocampus following pilocarpine-induced status epilepticus.
|
19356691 |
2009 |