present in Gene: MEFV
present in Chromosome: 16
Position on Chromosome: 3243310
Alleles of this Variant: A/G;T
rs28940579 in
MEFV gene and
Dysmorphic features
PMID 9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
PMID 4015155 1985 Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment.
PMID 28386255 2017 Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.
PMID 25760918 2016 Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.
PMID 5340644 1967 Familial Mediterranean fever. A survey of 470 cases and review of the literature.
PMID 22878273 2012 Familial Mediterranean fever: new phenotypes.
PMID 20485448 2010 Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.
PMID 9668175 1998 Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
PMID 16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
PMID 15868622 2005 Arthritis as the sole episodic manifestation of familial Mediterranean fever.
PMID 24424166 2014 Diagnostic criteria of familial Mediterranean fever.
PMID 11468188 2001 The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
rs28940579 in
MEFV gene and
Familial Mediterranean Fever
PMID 27659338 2016 Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.
PMID 16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
PMID 18386244 2008 A rare cause of ascites: Familial Mediterranean fever.
PMID 9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
PMID 23742958 2013 Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
PMID 27994174 2016 Evidence of digenic inheritance in autoinflammation-associated genes.
PMID 21600797 2011 Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice.
PMID 21995303 2012 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient.
PMID 26690517 2015 Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.
PMID 23907647 2014 Patient management and the association of less common familial Mediterranean fever symptoms with other disorders.
PMID 25628446 2015 Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
PMID 10879615 2000 Familial Mediterranean fever diagnosed by PCR.
PMID 10024914 1998 Pyrin/marenostrin mutations in familial Mediterranean fever.
PMID 25393764 2015 Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
PMID 16378925 2006 Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.
PMID 10364520 1999 MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
PMID 15745878 2005 The V726A mutation, although identified in FMF patients with a relatively mild phenotype, has also been detected in patients with renal amyloidosis.
PMID 11464238 2001 Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF chromosomes from typical cases (Armenians, Arabs, Jews, and Turks).
PMID 10234504 1999 Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
PMID 11977178 2002 Six sequence alterations (M694V, V726A, K695R, M680I, M694I, and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.
PMID 10612841 2000 MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
PMID 16627024 2007 Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
rs28940579 in
MEFV gene and
Overgrowth
PMID 15868622 2005 Arthritis as the sole episodic manifestation of familial Mediterranean fever.
PMID 22878273 2012 Familial Mediterranean fever: new phenotypes.
PMID 25760918 2016 Clinical Review: Familial Mediterranean Fever-An Overview of Pathogenesis, Symptoms, Ocular Manifestations, and Treatment.
PMID 24424166 2014 Diagnostic criteria of familial Mediterranean fever.
PMID 9288758 1997 Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.
PMID 16785446 2006 The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production.
PMID 11468188 2001 The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
PMID 20485448 2010 Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations.
PMID 9668175 1998 Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
PMID 4015155 1985 Remission of progressive renal failure in familial Mediterranean fever during colchicine treatment.
PMID 5340644 1967 Familial Mediterranean fever. A survey of 470 cases and review of the literature.
PMID 28386255 2017 Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.