NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Autoinflammatory Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE To determine the role of the NLRP3 inflammasome by using the selective NLRP3 inhibitor MCC950 in patients with NLRP3 low penetrance variants and clinical symptoms suggestive for an autoinflammatory syndrome including central nervous system (CNS) involvement. 30974290 2019
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE In a previous study, using a next generation sequencing approach, we found many rare variants and some functional polymorphisms in genes related to autoinflammatory syndromes (AID): CECR1, MEFV, MVK, NLRP3, NOD2, PSTPIP1 and TNFRSF1A in our BD cohort. 30808881 2019
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE NLRP3 (NOD-like receptor pyrin domain-containing protein 3) is an innate immune sensor that contributes to the development of different diseases, including monogenic autoinflammatory syndromes, gout, atherosclerosis, and Alzheimer's disease. 31086329 2019
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE The NLRP3 inflammasome is implicated in many human pathologies including infections, autoinflammatory syndromes, chronic inflammation, and metabolic diseases; however, the molecular mechanisms of activation are not fully understood. 29358279 2018
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE <i>In vivo</i> experiments show that TR has remarkable preventive or therapeutic effects on the mouse models of NLRP3 inflammasome-related human diseases, including gouty arthritis, cryopyrin-associated autoinflammatory syndromes, and type 2 diabetes. 29531021 2018
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE Importantly, treatment with CY-09 shows remarkable therapeutic effects on mouse models of cryopyrin-associated autoinflammatory syndrome (CAPS) and type 2 diabetes. 29021150 2017
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE Anti-IL1 agents are approved for the management of cryopyrin-related autoinflammatory syndrome, and their therapeutic efficacy is being increasingly recognized in other autoinflammatory syndromes and CGD. 27873163 2017
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Mutations in NLRP3 are associated with recurrent fever/autoinflammatory syndromes. 27694492 2016
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE The Relationship between NALP3 and Autoinflammatory Syndromes. 27187378 2016
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE Linkage of bacterial colonization of skin and the urticaria-like rash of NLRP3-mediated autoinflammatory syndromes through mast cell-derived TNF-α. 23684246 2013
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE This study assessed whether a rare variant, found in Japanese children showing atypical autoinflammatory syndrome, located in the leucine-rich repeat domain of Nod-like receptor family, pyrin domain containing 3 (NLRP3) with co-existence of Mediterranean fever (MEFV) haplotype variants may contribute to a proinflammatory phenotype using a systematic approach. 23015306 2013
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Approximately 20% of them were found to have NLRP3 variants, suggesting that inflammasome-related genes might be involved in this autoinflammatory syndrome. 23006543 2013
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Glyburide analogues inhibit ATP- but not hypothermia-induced IL-1beta secretion from human monocytes expressing familial cold-associated autoinflammatory syndrome-associated Cryopyrin mutations, thus suggesting that inhibition occurs upstream of Cryopyrin. 19805629 2009
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. 18174231 2008
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Sixty per cent of CINCA patients carry mutations in the cold-induced autoinflammatory syndrome (CIAS1) gene. 18609262 2008
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Cryopyrin-associated periodic syndromes are commonly linked to mutations in the cold-induced autoinflammatory syndrome gene CIAS1 (current symbol, NLRP3) on chromosome 1. 17509468 2007
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Our results add to the expanding spectrum of mutations in CIAS1 and provide evidence for striking phenotypic heterogeneity in inherited autoinflammatory syndromes. 17284928 2007
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 Biomarker disease BEFREE PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation. 16447225 2006
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome. 15245511 2004
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.100 GeneticVariation disease BEFREE Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene. 15593220 2004