KEGG DISEASE: Familial Mediterranean fever

DISEASE: Familial Mediterranean fever

Entry

H00288                      Disease

Name

Familial Mediterranean fever;
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

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

Pathway

hsa04621

NOD-like receptor signaling pathway

Network

nt06521 NLR signaling

Gene

MEFV [HSA:4210] [KO:K12803]

Drug

Canakinumab [DR:D09315]
Colchicine [DR:D00570]

Other DBs

ICD-11:

4A60.0

MeSH:

D010505

OMIM:

249100 134610

Reference

PMID:19339884

Authors

Guz G, Kanbay M, Ozturk MA

Title

Current perspectives on familial Mediterranean fever.

Journal

Curr Opin Infect Dis 22:309-15 (2009)
DOI:10.1097/QCO.0b013e328329d15e

Reference

PMID:17911435

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)
DOI:10.1196/annals.1423.022

Reference

PMID:11464238 (MEFV)

Authors

Touitou I

Title

The spectrum of Familial Mediterranean Fever (FMF) mutations.

Journal

Eur J Hum Genet 9:473-83 (2001)
DOI:10.1038/sj.ejhg.5200658

LinkDB

» Japanese version

DISEASE: Acute febrile neutrophilic dermatosis

Entry

H02590                      Disease

Name

Acute febrile neutrophilic dermatosis;
Pyrin-associated autoinflammatory disease;
Sweet syndrome

Description

Acute febrile neutrophilic dermatosis (AFND), also referred to as pyrin-associated autoinflammatory disease (PAAND), is an autosomal dominant autoinflammatory disorder characterized by fever and arthritis. Pyrin encoded by MEFV gene is a protein involved as a suppressor of inflammasome and mutations in the MEFV gene have been linked to AFND.