PNPO, pyridoxamine 5'-phosphate oxidase, 55163

N. diseases: 60; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311335
Disease: Grand Mal Status Epilepticus
Grand Mal Status Epilepticus 		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
CUI: C0393734
Disease: Complex Partial Status Epilepticus
Complex Partial Status Epilepticus 		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
CUI: C0751522
Disease: Status Epilepticus, Subclinical
Status Epilepticus, Subclinical 		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
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus 		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
CUI: C0751524
Disease: Simple Partial Status Epilepticus
Simple Partial Status Epilepticus 		0.300 Biomarker phenotype 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
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype BEFREE Neonatal epileptic encephalopathy (NEE), as a result of pyridoxine 5'-phosphate oxidase (PNPO) deficiency, is a rare neural disorder characterized by intractable seizures and usually leads to early infant death. 31616300 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype BEFREE Three groups of patients with PNPO mutations that had reduced enzyme activity were identified: (i) patients with neonatal onset seizures responding to pyridoxal 5'-phosphate (n = 6); (ii) a patient with infantile spasms (onset 5 months) responsive to pyridoxal 5'-phosphate (n = 1); and (iii) patients with seizures starting under 3 months of age responding to pyridoxine (n = 8). 24645144 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype BEFREE The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. 18485777 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype LHGDN The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. 18485777 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype BEFREE Levels of both pipecolic acid and certain metabolites shown to be elevated in patients with PNPO mutations should be measured, and therapeutic trials of pyridoxal phosphate as well as pyridoxine should be considered early in the course of the management of infants and young children with intractable seizures. 16538088 2006
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 AlteredExpression disease BEFREE Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder. 19759001 2009
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.100 Biomarker group HPO
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.100 Biomarker phenotype HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.100 Biomarker phenotype HPO