Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-1 associated periodic syndrome (TRAPS) is a very rare, hereditary, auto-inflammatory disorder caused by a genetic mutation within the tumor necrosis factor receptor superfamily member one-A (TNFRSF1A) gene, resulting in unregulated, systemic inflammation. 30931187 2019
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE In this review, I will discuss the most common autoinflammatory conditions of adulthood including familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), mevalonate kinase deficiency/hyperimmunoglobulinemia D Syndrome (MKD/HIDS), TNF receptor-associated autoinflammatory syndrome (TRAPS), and systemic juvenile idiopathic arthritis/adult-onset Still's disease (SJIA/AOSD). 30394352 2019
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. 24935411 2014
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE Tumor necrosis factor (TNF) receptor 1-associated periodic syndrome (TRAPS) is an autoinflammatory disorder caused by autosomal dominantly inherited mutations in the TNF receptor superfamily 1A (TNFRSF1A) gene. 23322460 2013
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13. 22884554 2012
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE Tumor necrosis factor receptor-1-associated periodic syndrome (TRAPS) is the most common autosomal dominant autoinflammatory disorder and is caused by mutations in the TNFRSF1A gene encoding the 55-kDa receptor for tumor necrosis factor (TNF)-α. TRAPS is characterized by recurrent attacks of fever, typically lasting from 1 to 3 weeks. 20473499 2012
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant autoinflammatory condition caused by mutations in the TNFRSF1A gene which encodes the tumor necrosis factor (TNF) receptor, TNFR1. 21420073 2011
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE The identification of TNFRSF1A mutations as the genetic cause of TRAPS coincided with the wider use of biological agents in medicine and raised the possibility that blocking TNF could potentially represent the primary therapeutic goal in TRAPS, thus disclosing new treatment choices for this complex disease. 20943039 2010
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE The diagnosis of an inherited tumor necrosis factor receptor (TNFR) 1-associated periodic syndrome (TRAPS) was confirmed by genetic analyses. 19381634 2009
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE Unlike other autoinflammatory diseases in which anti-TNF therapy is largely a successful treatment option, therapy with the anti-TNF drug infliximab is often ineffective in patients with TRAPS. 19180495 2009
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor 1-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited autoinflammatory disorder resulting from mutations in the TNFRSF1A gene, which encodes the p55 receptor for tumor necrosis factor alpha. 19029521 2008
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome. 17666110 2007
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE They include familial Mediterranean fever (FMF); tumor necrosis factor (TNF) receptor periodic syndrome (TRAPS); hyperimmunoglobulinemia D syndrome (HIDS); and hereditary periodic fevers related to mutations in the CIAS1 (cold induced autoinflammatory syndrome 1) gene, such as Muckle-Wells syndrome, familial cold urticaria, and CINCA/NOMID (chronic infantile neurological cutaneous and articular/neonatal-onset multisystemic inflammatory disease). 17950649 2007
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited autosomal-dominant autoinflammatory condition caused by mutations in the ectodomain of the 55-kd tumor necrosis factor (TNF) receptor superfamily 1A. 18050249 2007
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE TRAPS is caused by mutations in the gene encoding the TNF Receptor Super Family 1A (TNFRSF1A) on chromosome 12p13. 16447098 2006
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE Synthetic anti-TNF agents provide a rational form of therapy for TRAPS, and have been shown to delay or indeed prevent development of systemic amyloidosis (AA type), a life-threatening complication in this condition. 16216134 2005
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomic-dominant periodic syndrome associated with mutations in the extracellular domain of the 55 kDa TNF receptor. 15630744 2005
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE TRAPS is the first condition for which naturally occurring mutations in a TNF receptor were found; the mutations affect the soluble TNFRSF1A gene in the 12p13 region. 15288852 2004
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 GeneticVariation disease BEFREE TRAPS is caused by dominant mutations in the 55 kDa TNF receptor gene (TNFRSF1A). 11722598 2001
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
0.100 Biomarker disease BEFREE To characterize both phenotypic (clinical features and magnetic resonance imaging [MRI] findings) and genotypic aspects of autosomal-dominant recurrent fever, also known as tumor necrosis factor receptor (TNFR)-associated periodic syndrome (TRAPS), in a French family and to investigate the role of the mutated 55-kd tumor necrosis factor alpha (TNFalpha) receptor (TNFR1) in the pathogenesis of the disease. 10902757 2000