NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Autoinflammatory disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Muckle-Wells syndrome (MWS) is a rare autoinflammatory disorder associated with NLRP3 gene mutations, which cause excessive caspase-1 activation and processing of interleukin (IL)-1β and IL-18. 22512814 2012
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Genetic variations in Nalp1 and cryopyrin/Nalp3 are associated with autoinflammatory disorders and increased susceptibility to microbial infection. 19120479 2009
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Mutations in cryopyrin and pyrin proteins are responsible for several autoinflammatory disorders in humans, suggesting that these proteins play important roles in regulating inflammation. 16037825 2006
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 AlteredExpression disease BEFREE Mutations in the CIAS1 gene, which encodes a member of the NALP (NACHT-, LRR-, and PYD-containing proteins) family, the cryopyrin/NALP3/PYPAF1 protein, expressed primarily in phagocytic cells, were recently found to be associated with a spectrum of autoinflammatory disorders. 14630794 2004
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE The autoinflammatory disorders Muckle-Wells syndrome, familial cold urtecaria and chronic infantile neurological cutaneous and articular syndrome are associated with mutations in the NALP3 (Cryopyrin) gene, which is the central platform of the proinflammatory caspase-1 activating complex, named the inflammasome. 17431422 2007
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease BEFREE Mutated NLRP3 assembles a hyperactive inflammasome, which causes excessive secretion of interleukin (IL)-1β and IL-18 and, ultimately, a spectrum of autoinflammatory disorders known as cryopyrinopathies of which neonatal-onset multisystem inflammatory disease (NOMID) is the most severe phenotype. 30388107 2018
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE The autoinflammatory disorder, Neonatal-onset Multisystem Inflammatory Disease (NOMID) is the most severe phenotype of disorders caused by mutations in CIAS1 that result in increased production and secretion of active IL-1β. 23226210 2012
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease BEFREE In general, these autoinflammatory disorders have shown a clinical response to interleukin-1 (IL-1) antagonists, suggesting that the NALP3 inflammasome serves a critical role in their pathogenesis. 27187378 2016
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE These results further link mutations in cryopyrin with abnormal caspase-1 activation, and support the clinical testing of caspase-1 inhibitors such as VX-765 in autoinflammatory disorders. 16081838 2005
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Functional consequences of a germline mutation in the leucine-rich repeat domain of NLRP3 identified in an atypical autoinflammatory disorder. 20131254 2010
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE CAPS is an autosomal dominantly inherited autoinflammatory disorder associated with mutations in the NLRP3 gene, which ultimately lead to excessive production of interleukin-1β (IL-1β) and systemic inflammation. 30175395 2018
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE The cryopyrin-associated periodic fever syndrome (CAPS) is an autosomal dominant autoinflammatory disorder caused by mutations in the NLRP3 gene and is typified by recurrent episodes of systemic inflammation resulting in fever, urticarial rash and arthralgia. 26931528 2016
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease BEFREE MWS is a rare systemic autoinflammatory disorder that presents with a variety of ocular findings. 30556770 2020
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE The importance of these cytosolic receptors in immune regulation is underscored by the identification of mutations in cryopyrin/NALP3, which are genetically linked to human autoinflammatory disorders. 17442855 2007
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE The cryopyrinopathies are a group of rare autoinflammatory disorders that are caused by mutations in CIAS1, encoding the cryopyrin protein. 17393462 2007
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease BEFREE Increased inflammasome activity is therefore likely to be the molecular basis of the symptoms associated with NALP3-dependent autoinflammatory disorders. 15030775 2004
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 GeneticVariation disease BEFREE Mutations in NLRP3 are known to be responsible for three rare autoinflammatory disorders. 19098911 2009
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		0.400 Biomarker disease GENOMICS_ENGLAND Keratoendotheliitis Fugax Hereditaria: A Novel Cryopyrin-Associated Periodic Syndrome Caused by a Mutation in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. 29366613 2018