Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Additional phenotypes traditionally associated with NLRP3 mutations like familial cold autoinflammatory syndrome and neonatal onset multisystem inflammatory disease (NOMID), have now also been associated with gain-of-function NLRC4 mutations. 28957823 2017
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE The NLRP3 mutation A439V is associated with a heterogeneous clinical spectrum of familial cold autoinflammatory syndrome/MWS-overlap syndrome. 27134254 2016
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 Biomarker disease BEFREE Cryopyrin-associated periodic syndromes (CAPS) is a rare group of autoinflammatory disorders that includes familial cold autoinflammatory syndrome or FCAS, Muckle-wells syndrome or MWS, and neonatal-onset multisystem inflammatory disease or NOMID. 26140469 2016
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 Biomarker disease CTD_human An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. 25217959 2014
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Cryopyrinopathies are a group of conditions associated to mutations of the gene Cryopyrin that are responsible for a spectrum of diseases (familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome) characterized by a chronic or recurrent systemic inflammation variably associated with a number of clinical features, such as urticarial-like rash, arthritis, sensorineural deafness, and central nervous system and bone involvement. 18368292 2008
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Familial cold autoinflammatory syndrome (FCAS) is caused by mutations in the CIAS1 gene, leading to excessive secretion of interleukin-1beta (IL-1beta), which is associated with cold-induced fevers, joint pain, and systemic inflammation. 18668591 2008
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Muckle-Wells syndrome (MWS) and familial cold autoinflammatory syndrome (FCAS) are rare periodic fevers associated with CIAS1 mutations. 18174231 2008
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Several disorders, including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and neonatal onset multisystem inflammatory disorder (NOMID), are associated with mutations in a common gene, CIAS-1. 17927785 2008
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE We tested for CIAS1 mutations in 22 patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome, 12 with Muckle-Wells syndrome (MWS), 18 with familial cold-induced autoinflammatory syndrome (FCAS), and 3 probands with MWS/FCAS. 17393462 2007
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE CIAS1, the gene that codes for cryopyrin, is mutated in FCAS. 17320940 2007
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 Biomarker disease BEFREE A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin. 17284928 2007
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene are associated with a spectrum of autoinflammatory diseases, including familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and chronic infantile neurologic, cutaneous, articular syndrome, also known as neonatal-onset multisystem inflammatory disease. 17164343 2007
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Familial cold autoinflammatory syndrome (FCAS) and the related autoinflammatory disorders, Muckle-Wells syndrome and neonatal onset multisystem inflammatory disease, are characterized by mutations in the CIAS1 gene that encodes cryopyrin, an adaptor protein involved in activation of IL-converting enzyme/caspase-1. 16081838 2005
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. 15801036 2005
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 Biomarker disease BEFREE Cryopyrin, the protein that is altered in FCAS, is one of the adaptor proteins that activate caspase 1, resulting in release of interleukin 1. 15541451 2004
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Mutations in the NALP3/CIAS1/PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID), which is also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome. 14872505 2004
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Dominant mutations in the CIAS1 gene cause a spectrum of autoinflammatory diseases such as familial cold autoinflammatory syndrome, FCAS, which is characterized by episodes of urticaria, arthralgia, fever and conjunctivitis after generalized exposure to cold. 15245511 2004
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE The clinical data suggested a diagnosis of familial cold-induced autoinflammatory syndrome in 3 families, CINCA/NOMID syndrome in 3 others, and a possible Muckle-Wells syndrome, whereas mutational analysis showed different CIAS1/PYPAF1/NALP3 missense mutations in 5 families. 15593220 2004
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. 14630794 2004
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Recently, mutations responsible for FCAS were identified in a novel gene (CIAS1), making it possible to confirm the diagnosis in most patients. 12602672 2003
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 Biomarker disease BEFREE MMIG-1 shows >85% sequence similarity to human cryopyrin/PYPAF1, a causal gene for familial cold urticaria and Muckle-Wells syndrome. 14688236 2003
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE We found a single heterozygous missense mutation (T1058C=L353P) in exon 3 of CIAS1 in all four families that is responsible for the large majority of FCAS cases described in the literature. 12522564 2003
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 Biomarker disease CTD_human Chronic infantile neurological cutaneous articular syndrome: CD10 over-expression in neutrophils is a possible key to the pathogenesis of the disease. 12928894 2003
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 GeneticVariation disease BEFREE Here, we examine two of these newly identified proteins, pyrin (also called marenostrin, product of the familial Mediterranean fever locus, MEFV) and cryopyrin (product of the CAIS1 locus, and mutated in familial cold urticaria, Muckle Wells syndrome and chronic infantile neurological cutaneous and articular syndrome). 12371636 2003
CUI: C0343068
Disease: Familial cold urticaria
Familial cold urticaria
0.800 Biomarker disease BEFREE Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells Syndrome)/FCU (Familial Cold Urticaria)/CINCA (Chronic Infantile Neurological Cutaneous and Articular Syndrome). 12520003 2003