KEGG   DISEASE: H00288Help
Entry
H00288                      Disease                                

Name
Familial Mediterranean fever (FMF);
Familial hereditary periodic fever syndromes
Description
Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an autosomal recessive disorder caused by missense mutations in the MEFV gene, which encodes the pyrin protein. Mutations in pyrin may lead to uncontrolled inflammation due to IL-1beta hyperactivation. FMF is characterized by recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms start before 20 years of age in about 90% of cases.
Category
Immune system disease
BRITE hierarchy
Pathway
NOD-like receptor signaling pathway
Gene
MEFV [HSA:4210] [KO:K12803]
MICA (polymorphysm) [HSA:100507436] [KO:K07985]
Drug
Etanercept [DR:D00742]
Infliximab [DR:D02598]
Anakinra [DR:D02934]
Comment
{Alpha}/{alpha} genotype of SAA1 [HSA:6288] is a risk factor for amyloidosis.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:19339884 (gene, drug)
  Authors
Guz G, Kanbay M, Ozturk MA
  Title
Current perspectives on familial Mediterranean fever.
  Journal
Curr Opin Infect Dis 22:309-15 (2009)
Reference
PMID:11464238 (gene)
  Authors
Touitou I
  Title
The spectrum of Familial Mediterranean Fever (FMF) mutations.
  Journal
Eur J Hum Genet 9:473-83 (2001)
Reference
PMID:17911435 (gene, drug)
  Authors
Bhat A, Naguwa SM, Gershwin ME
  Title
Genetics and new treatment modalities for familial Mediterranean fever.
  Journal
Ann N Y Acad Sci 1110:201-8 (2007)

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