TNFRSF1A, TNF receptor superfamily member 1A, 7132

N. diseases: 487; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE Genetic analysis revealed a mutation in the TNFRSF1A gene, and the patient was diagnosed with TRAPS-associated bilateral panuveitis. 29256170 2019
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE We identified two TRAPS patients in one family harboring a novel p.Gly87Val (G87V) mutation in addition to a p.Thr90Ile (T90I) mutation in TNFRSF1A. 31429073 2019
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE Four Greek patients with TRAPS-like clinical features were screened for TNFRSF1A mutations by sequencing exons 2, 3 and 4. 31562507 2019
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE TNF receptor-associated periodic fever syndrome (TRAPS) is an autosomal dominant systemic autoinflammatory disease caused by mutations of TNF receptor superfamily member 1 A (TNFRSF1A) gene. 31774538 2019
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE Tumor necrosis factor receptor associated periodic fever syndrome (TRAPS) is caused by heterozygote mutations in TNFRSF1A, characterized by recurrent inflammatory attacks. 31586650 2019
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE The cryopyrin associated periodic syndrome (CAPS), the hyper IgD syndrome (HIDS) and the TNF receptor-associated periodic syndrome (TRAPS), are autoinflammatory conditions associated with mutations in the NLRP3, MVK and TNFRSF1A genes, respectively. 30418111 2019
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE The drugs were screened at four 10-fold concentrations on cell lines expressing both wild-type (WT) TNFR1 and TRAPS-associated C33Y mutant TNFR1, or WT TNFR1 alone; signalling molecule levels were then determined in cell lysates by the reverse-phase protein microarray. 28860008 2017
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 Biomarker disease BEFREE Canakinumab downregulated the TRAPS-causing gene (TNF super family receptor 1A (TNFRSF1A)), the drug-target gene (interleukin (IL)-1B) and other inflammation-related genes (eg, MAPK14). 27474763 2017
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE She was found to have a previously unreported mutation, Thr90Pro, in the TNFRSF1A gene associated with TRAPS. 28427379 2017
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE More than 70 different TNFRSF1A mutations have been reported to date, and as consequence of its genetic heterogeneity, TRAPS shows a variable phenotypic expression. 27990755 2017
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a multisystemic autoinflammatory condition associated with heterozygous TNFRSF1A mutations, presenting with a variety of clinical symptoms, many of which yet unexplained. 27310036 2017
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion. 26992170 2016
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 CausalMutation disease CLINVAR Adult-onset tumour necrosis factor receptor-associated periodic syndrome presenting with refractory chronic arthritis. 25936627 2016
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE To elucidate the clinical and genetic features of patients with TNFRSF1A variants in Japan using data obtained from a nationwide survey conducted by the Ministry of Health, Labor, and Welfare of Japan study group for tumor necrosis factor receptor-associated periodic syndrome (TRAPS). 27332769 2016
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome is associated with mutations in the tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A) gene which decreases the level of soluble tumor necrosis factor receptor-1 (TNFR1) leading to neutralization of tumor necrosis factor (TNF)-α. 27187378 2016
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE A novel mutation (c.262 T > C; S59P) in the TNFRSF1A gene at residue 88 of the mature protein was recently identified in our laboratory in an adult TRAPS patient. 25888769 2015
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 Biomarker disease BEFREE The aim of this study was to investigate the role of cell surface TNFR1 in TRAPS, and the contribution of TNF-dependent and TNF-independent mechanisms to the production of cytokines. 26202849 2015
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 CausalMutation disease CLINVAR The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and long-term follow-up. 24393624 2014
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 AlteredExpression disease BEFREE To describe a new exon 2-spliced transcript-TNFR1-d2-and the impact of these three single nucleotide polymorphisms on exon 2 splicing, transcriptional activity of TNFRSF1A and TRAPS phenotype. 23505244 2014
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE The results revealed a heterozygous T61I mutation in the TNFRSF1A gene that encodes tumor necrosis factor-α receptor and is responsible for TRAPS. 24835548 2014
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE Furthermore, autophagy impairment may account for the pathogenic effects of TNFRSF1A mutations, thus inducing inflammation in TRAPS. 24706103 2014
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 GeneticVariation disease BEFREE TNFRSF1A sequence variants in the TRAPS patients included p.R121Q (R92Q) and p.C99G (C70G); one patient had a rare occurrence of a concurrent p.V726A/-MEFV mutation. 24233262 2014
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 CausalMutation disease CLINVAR The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. 23965844 2014
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 Biomarker disease BEFREE This study reveals the pleiotropic effect of a TRAPS-associated mutant form of TNFR1 on inflammatory signaling pathways (a proinflammatory signalome), which is consistent with the variable and limited efficacy of cytokine-blocking therapies in TRAPS. 24668260 2014
TNF receptor-associated periodic fever syndrome (TRAPS)
1.000 CausalMutation disease CLINVAR Symptoms related to tumor necrosis factor receptor 1-associated periodic syndrome, multiple sclerosis, and severe rheumatoid arthritis in patients carrying the TNF receptor superfamily 1A D12E/p.Asp41Glu mutation. 23322460 2013