KEGG DISEASE: Familial Mediterranean fever

H00288                      Disease                                


Familial Mediterranean fever;
Familial hereditary periodic fever syndromes

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.

Immune system disease

Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H00288  Familial Mediterranean fever
Pathway-based classification of diseases [BR:br08402]
 Immune system
  nt06521  NLR signaling
   H00288  Familial Mediterranean fever

Guz G, Kanbay M, Ozturk MA

Current perspectives on familial Mediterranean fever.

Bhat A, Naguwa SM, Gershwin ME

Genetics and new treatment modalities for familial Mediterranean fever.

Touitou I

The spectrum of Familial Mediterranean Fever (FMF) mutations.