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: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 Biomarker group BEFREE Here we characterized sgll, the Drosophila ortholog of PNPO gene, showing that its silencing by RNA interference elicits chromosome aberrations (CABs) in brains and induces diabetic hallmarks such as hyperglycemia and small body size. 31506944 2020
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 Biomarker disease BEFREE Here we characterized sgll, the Drosophila ortholog of PNPO gene, showing that its silencing by RNA interference elicits chromosome aberrations (CABs) in brains and induces diabetic hallmarks such as hyperglycemia and small body size. 31506944 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE Suppression of PNPO inhibited breast cancer cell proliferation, migration, invasion and colony formation, arrested cell cycle at the G2/M phase and induced cell apoptosis. 30982780 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE We unveiled for the first time that PNPO was upregulated in patients with IDC and was correlated with the overall survival of patients with metastasis at the later stages. 30982780 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE Suppression of PNPO inhibited breast cancer cell proliferation, migration, invasion and colony formation, arrested cell cycle at the G2/M phase and induced cell apoptosis. 30982780 2019
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.010 Biomarker disease BEFREE This study aims to evaluate the biological function and the regulatory mechanism of PNPO in human breast invasive ductal carcinoma (IDC). 30982780 2019
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 Biomarker disease BEFREE Taken together, these results reveal the biological function and a regulatory mechanism of PNPO, in which the MALAT1/miR-216b-5p/PNPO axis may be important in IDC development. 30982780 2019
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 AlteredExpression disease BEFREE PNPO at mRNA and protein levels in EOC cells was decreased after transforming growth factor-β1 (TGF-β1) treatment. 29238081 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Knockdown of PNPO induced EOC cell apoptosis, arrested cell cycle at G2/M phase, decreased cell proliferation, migration and invasion. 29238081 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE Pyridoxine 5'-phosphate oxidase (PNPO) is an enzyme that converts pyridoxine 5'-phosphate into pyridoxal 5'-phosphate (PLP), an active form of vitamin B6 implicated in several types of cancer. 29238081 2017
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE PNPO at mRNA and protein levels in EOC cells was decreased after transforming growth factor-β1 (TGF-β1) treatment. 29238081 2017
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.010 GeneticVariation disease 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: C1849508
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT
EPILEPSY, PYRIDOXINE-DEPENDENT 		0.010 Biomarker disease BEFREE Patients with pyridoxine response but normal biomarkers for antiquitin deficiency should undergo PNPO mutation analysis. 24658933 2014
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		0.010 GeneticVariation disease 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: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.010 GeneticVariation disease BEFREE A genome-wide association study in idiopathic generalized epilepsy revealed the first common risk variants for human seizure disorders including variants in VRK2, PNPO and SCN1A. 23429546 2013
CUI: C1291312
Disease: Deficiency of oxidase
Deficiency of oxidase 		0.010 GeneticVariation disease BEFREE We present a patient with severe pyridox(am)ine 5'-phosphate oxidase deficiency and homozygosity for a novel nonsense-mutation, p.A174X, in the PNPO gene who died with pyridoxal phosphate (PLP) treatment despite initial clinical recovery. 18024216 2008
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 Biomarker group BEFREE We previously identified three differentially expressed genes, Acadsb (short/branched chain acyl-CoA dehydrogenase), Comt (catecholamine-O-methyltransferase), and Pnpo (pyridoxine 5'-phosphate oxidase), in hypertensive and normotensive rat kidneys as potential susceptibility genes for rat hypertension. 17143180 2007
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Pyridoxine 5'-phosphate oxidase (PNPO) is an enzyme that converts pyridoxine 5'-phosphate into pyridoxal 5'-phosphate (PLP), an active form of vitamin B6 implicated in several types of cancer. 29238081 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Xenografts of PNPO-shRNA-expressing cells into the nude mouse attenuated tumour growth. 29238081 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE The availability of these biological reagents will not only facilitate in depth investigations of the reasons for the absence of PNPO in liver and brain malignancies but also aid in an understanding of the biochemical regulation of B6 metabolism in development. 9601034 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE In particular, pyridoxine- 5'-phosphate oxidase (PNPO), the rate-limiting enzyme in pyridoxal 5'-phosphate (PLP) biosynthesis, is absent in liver and neurally-derived tumors. 9601034 1998
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation. 28818555 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 GeneticVariation disease BEFREE Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. 26535729 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 AlteredExpression disease BEFREE We believe the reduction in PNPO activity and B6-responsive epilepsy in the patients reported here indicates that it contributes to the pathogenesis of epilepsy. 24645144 2014
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.040 Biomarker disease BEFREE ALDH7A1 and PNPO deficiencies are rare inborn errors of vitamin B6 metabolism causing perinatal seizure disorders. 24114605 2014