NPTX2, neuronal pentraxin 2, 4885

N. diseases: 67; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		0.010 GeneticVariation disease BEFREE Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported. 22459315 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE A protein called NPTX2 may be a useful marker of neural circuit defects in patients with Alzheimer's disease. 28440224 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 Biomarker disease BEFREE NPTX2 in human CSF is reduced in subjects with AD and shows robust correlations with cognitive performance and hippocampal volume. 28440221 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 AlteredExpression disease BEFREE The expression of neuronal pentraxin 2 (NPTX2) is absent in Alzheimer's disease, anxiety, and depression. 30833544 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 AlteredExpression disease BEFREE We found that the MET, WIF1, and NPTX2 genes are downregulated in AD. 29426890 2018
CUI: C0003467
Disease: Anxiety
Anxiety 		0.010 Biomarker disease BEFREE The increase in anxiety was evident in hippocampus-specific Nptx2 knockout mice, but not in an amygdala specific knockouts. 29844474 2018
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		0.010 Biomarker group BEFREE The increase in anxiety was evident in hippocampus-specific Nptx2 knockout mice, but not in an amygdala specific knockouts. 29844474 2018
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		0.010 Biomarker phenotype BEFREE Syndromic mitochondrial disorders obligatory associated with epilepsy include Alpers-Huttenlocher-syndrome (AHS), ataxia neuropathy spectrum (ANS), Leigh-syndrome, MELAS-syndrome, myoclonic epilepsy, myopathy, and sensory ataxia (MEMSA) syndrome, and MERRF-syndrome, Occasionally, epilepsy is a phenotypic feature in IOSCA, KSS, LHON, LBSL, or NARP, All types of seizures occur but most frequently generalized tonic-clonic seizures, partial seizures, myoclonic jerks, or West-syndrome was reported. 22459315 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE In the present study, we tested for the presence of the association of four single nucleotide polymorphisms (SNPs) of NPTX2 and haplotypes consisting of the SNPs with autism, between autistic patients (n=170) and normal controls (n=214) in a Japanese population. 17408830 2007
CUI: C4331824
Disease: Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Autosomal Dominant Neurohypophyseal Diabetes Insipidus 		0.020 GeneticVariation disease BEFREE The objective of this study was to identify the corresponding locus responsible for ADNDI in a family without AVP-NP II gene mutations. 15811933 2005
CUI: C4331824
Disease: Autosomal Dominant Neurohypophyseal Diabetes Insipidus
Autosomal Dominant Neurohypophyseal Diabetes Insipidus 		0.020 GeneticVariation disease BEFREE Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). 11581002 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 AlteredExpression phenotype BEFREE This study suggests that NPTX2, as a tumor-suppressor, plays an anti-tumor effect on pancreatic cancer and its low expression, due to promoter hypermethylation, may play a role in the tumorigenesis of pancreatic cancer. 21161403 2011
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE The MSP analysis revealed that the promoter region of NPTX2 gene was largely unmethylated in normal pancreatic tissues, while NPTX2 was frequently hypermethylated in pancreatic cancer cells and in primary pancreatic carcinomas. 22806544 2012
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		0.020 GeneticVariation disease BEFREE We concluded that a novel splicing mutation in the AVP-NP II gene causes neurohypophyseal diabetes insipidus in this family. 16006166 2006
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		0.020 Biomarker disease BEFREE Here, we report a novel heterozygous missense mutation in the AVP moiety of the AVP-NP II gene in a Japanese person with neurohypophyseal diabetes insipidus (DI). 16682840 2006
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 Biomarker disease BEFREE Finally, we show that NPTX2 is a marker of poor prognosis for neuroblastoma patients. 26294210 2015
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 Biomarker disease BEFREE Finally, we show that NPTX2 is a marker of poor prognosis for neuroblastoma patients. 26294210 2015
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		0.010 Biomarker disease BEFREE It was commonly observed in subjects with chronic progressive external ophthalmoplegia (cPEO) and with primary myopathy without cPEO, but also-although less frequently-in multisystem phenotypes such as MELAS, MERFF, Kearns Sayre syndrome, NARP, MNGIE and Leigh syndrome. 30710167 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE In conclusion, NPTX2, a molecule related to nervous system diseases, promotes CRC cell proliferation and metastasis through the activation of the Wnt/β-catenin pathway via direct interaction with FZD6. 30833544 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 AlteredExpression disease BEFREE In conclusion, the present study reveals a novel regulatory mechanism of miR-96 on NPTX2 expression in RCC, and the potential of miR-96 as a RCC tumor repressor deserves further investigation. 31498486 2020
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.020 Biomarker disease BEFREE We propose NPTX2 as a novel molecular target for therapy for patients with ccRCC diagnosed with or at risk of developing metastatic disease. 24962026 2014
CUI: C0497327
Disease: Dementia
Dementia 		0.010 AlteredExpression disease BEFREE In a preclinical period, 6-11 yr before the onset of dementia, the NDE levels of all but NPTX2 were significantly lower than those of matched controls, and levels of all proteins declined significantly with the development of dementia. 29025866 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 AlteredExpression phenotype BEFREE The expression of neuronal pentraxin 2 (NPTX2) is absent in Alzheimer's disease, anxiety, and depression. 30833544 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.010 AlteredExpression disease BEFREE The expression of neuronal pentraxin 2 (NPTX2) is absent in Alzheimer's disease, anxiety, and depression. 30833544 2019
CUI: C0278694
Disease: Disseminated neuroblastoma
Disseminated neuroblastoma 		0.010 AlteredExpression disease BEFREE We show that, in comparison with normal tissues, NPTX2 and NPTXR are overexpressed in vivo in mouse models, as well as in human Schwannian stroma-poor, stage IV neuroblastoma. 26294210 2015