MEFV, MEFV innate immuity regulator, pyrin, 4210

N. diseases: 410; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 GeneticVariation disease BEFREE Their parents were heterozygous for the same mutation p.M680I, however, the mother showed severe symptoms of FMF (recurrent attacks of fever, arthralgia and arthritis, abdominal pain, thoracic pain), the father showed recurrent pustulosis prevalent on the hands and limbs, with arthralgia and abdominal pain. 31443670 2019
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 GeneticVariation disease BEFREE Our results indicate that the later-onset FMF patients had a lower percentage of MEFV mutations in exon 10 and predominantly presented arthritis and myalgia. 30458853 2018
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 Biomarker disease BEFREE Poor response to colchicine alone suggests that the MEFV substitution could increase the susceptibility to arthritis rather than caused arthritis associated with atypical Familial Mediterranean Fever. 26457478 2018
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 Biomarker disease BEFREE To determine if familial Mediterranean fever (FMF) genetic testing should be advised in children with initial presentation of monoarthritis and to identify clinical parameters associated with FMF-induced arthritis that warrant genetic investigation. 27310037 2018
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 Biomarker disease BEFREE 1.The diagnosis of FMF is based on clinical manifestations, characterized by recurrent febrile episodes associated with abdominal pain, chest or arthritis of large joints.2. 27267332 2018
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 GeneticVariation disease BEFREE In nine patients found to be MEFV gene mutation carriers, higher serum erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels and higher numbers patients with arthritis, enthesitis, and ankle arthritis were found (p = 0.01, p = 0.04, p = 0.028, p = 0.05, p = 0.05, respectively). 27053370 2016
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 GeneticVariation disease BEFREE Arthritis disorders are associated with mutations of the Mediterranean fever (MEFV) gene. 23360841 2013
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 Biomarker disease BEFREE By screening the 'Infevers' website, we further disclosed 13 cases with MEFV mutations that were defined as 'atypical FMF' and 4 cases categorized as 'recurrent arthritis'. 19837680 2009
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 GeneticVariation disease BEFREE Patients with MEFV mutations were younger than those without mutations and they had edema and arthritis more frequently. 18843775 2008
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 GeneticVariation disease BEFREE The homozygosity of M694V mutation in the MEFV gene is associated with arthritis in FMF patients. 14727057 2005
CUI: C0003864
Disease: Arthritis
Arthritis
0.200 Biomarker disease HPO