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: 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: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.010 Biomarker group BEFREE NARP is a recently described, maternally inherited mitochondrial syndrome in which a retinal dystrophy, among other abnormalities, is related to a mutation of the mtDNA at nucleotide 8993. 10396197 1999
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.020 PosttranslationalModification disease BEFREE NPTX2 hypermethylation in pure pancreatic juice predicts pancreatic neoplasms. 23360791 2013
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.010 Biomarker disease BEFREE NPTX2 and cognitive dysfunction in Alzheimer's Disease. 28440221 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: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE NPTX2 promotes colorectal cancer growth and liver metastasis by the activation of the canonical Wnt/β-catenin pathway via FZD6. 30833544 2019
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.010 Biomarker disease BEFREE NPTX2 promotes colorectal cancer growth and liver metastasis by the activation of the canonical Wnt/β-catenin pathway via FZD6. 30833544 2019
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		0.050 Biomarker disease BEFREE A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 29054413 2017
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		0.060 Biomarker disease BEFREE A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aL<sub>217</sub>R) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases. 30414414 2019
CUI: C2931092
Disease: Maternally Inherited Leigh Syndrome
Maternally Inherited Leigh Syndrome 		0.030 Biomarker disease BEFREE A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aL<sub>217</sub>R) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases. 30414414 2019
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: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.060 Biomarker disease BEFREE Additionally, a full-length NPTX2 cDNA was transfected into pancreatic cancer cells (PANC-1) and we obtained the stably transfected cells (PANC-1-NPTX2). 21161403 2011
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.040 Biomarker disease BEFREE Additionally, a full-length NPTX2 cDNA was transfected into pancreatic cancer cells (PANC-1) and we obtained the stably transfected cells (PANC-1-NPTX2). 21161403 2011
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 GeneticVariation group BEFREE As in cases with the NARP mutation and onset later in life, neuropathy and retinopathy could also be demonstrated. 14598233 2003
CUI: C3160815
Disease: Intraductal papillary mucinous neoplasm
Intraductal papillary mucinous neoplasm 		0.010 Biomarker disease BEFREE At a cutoff value of 1.39 for quantitative MSP, the incidence of aberrant NPTX2 methylation was 61.3% (19 of 31) in patients with pancreatic cancer, 50.0% (5 of 10) in patients with malignant intraductal papillary mucinous neoplasm, 0% in patients with benign intraductal papillary mucinous neoplasm and 8.7% (2 of 23) in patients with chronic pancreatitis. 23360791 2013
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.030 GeneticVariation disease BEFREE CHOP (C/EBP homologous protein) and ASNS (asparagine synthetase) induction in cybrid cells harboring MELAS and NARP mitochondrial DNA mutations. 17276738 2007
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		0.060 GeneticVariation disease BEFREE Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA). 10396197 1999
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation disease BEFREE During follow-up (4.1 + or - 2.8 years), two patients with CPEO + MM developed hypertrophic cardiomyopathy and one patient with NARP developed peripartum dilated cardiomyopathy. 20083621 2010
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 GeneticVariation disease BEFREE During follow-up (4.1 + or - 2.8 years), two patients with CPEO + MM developed hypertrophic cardiomyopathy and one patient with NARP developed peripartum dilated cardiomyopathy. 20083621 2010
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 Biomarker disease BEFREE Finally, we show that NPTX2 is a marker of poor prognosis for neuroblastoma patients. 26294210 2015
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.020 Biomarker phenotype BEFREE Furthermore, transfection assays in RenCa and 786-O cells showed miR-96 and small interfering RNA of NPTX2 inhibited cell proliferation, migration, and invasion and overexpression of NPTX2 recovered the inhibition of miR-96. 31498486 2020
CUI: C0014175
Disease: Endometriosis
Endometriosis 		0.010 AlteredExpression disease BEFREE Group 3 consists of a single gene, neuronal pentraxin II, normally down-regulated during the window of implantation and further decreased in endometrium from women with endometriosis. 12810542 2003
CUI: C1865794
Disease: RHYNS syndrome
RHYNS syndrome 		0.050 Biomarker disease BEFREE Here we establish a rapid, yeast-based assay to screen for drugs active against human inherited mitochondrial diseases affecting ATP synthase, in particular NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome. 21715656 2011