Preferred Label : Familial mediterranean fever;
Symbol : FMF;
CISMeF acronym : FMF;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Polyserositis, familial paroxysmal; Familial mediterranean fever, autosomal recessive; Polyserositis, recurrent;
Description : Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized
by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura,
accompanied by pain. Amyloidosis with renal failure is a complication and may develop
without overt crises (French FMF Consortium, 1997). See also autosomal dominant FMF
(134610), which is caused by heterozygous mutation in the MEFV gene.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutations in the pyrin gene (MEFV, 608107.0001);
Laboratory abnormalities : Prominent leukocytosis (30,000/ml); Elevated erythrocyte sedimentation rate;
Prefixed ID : #249100;
Origin ID : 249100;
UMLS CUI : C0031069;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)