familial Mediterranean fever

Summary
Synonym
  • FMF
  • benign paroxysmal peritonitis
Definition
An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.
Super Class
autoinflammatory disease autosomal genetic disease
Disease Ontology
DOID:2987
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
1576 CYP3A4 cytochrome P450 family 3 subfamily A member 4
1636 ACE angiotensin I converting enzyme
4210 MEFV MEFV innate immunity regulator, pyrin
5054 SERPINE1 serpin family E member 1
5243 ABCB1 ATP binding cassette subfamily B member 1
5443 POMC proopiomelanocortin
7099 TLR4 toll like receptor 4
64127 NOD2 nucleotide binding oligomerization domain containing 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025