Familial Mediterranean Fever

URI: https://gptkb.org/entity/Familial_Mediterranean_Fever
GPTKB entity
Statements (38)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:abbreviation gptkb:FMF
gptkbp:alsoKnownAs recurrent polyserositis
gptkbp:category autoimmune disease
hereditary periodic fever syndrome
gptkbp:complication amyloidosis
gptkbp:diagnosedBy genetic testing
clinical criteria
gptkbp:field genetics
rheumatology
gptkbp:firstDescribed 1945
gptkbp:frequency rare
https://www.w3.org/2000/01/rdf-schema#label Familial Mediterranean Fever
gptkbp:ICD-10_code E85.0
gptkbp:inheritance genetic disorder
autosomal recessive
gptkbp:locatedOnChromosome gptkb:chromosome_16p13.3
gptkbp:managedBy lifelong colchicine therapy
gptkbp:mutationAssociatedWith gptkb:MEFV_gene
gptkbp:OMIM 249100
gptkbp:onset childhood
gptkbp:prevalence gptkb:Arabs
gptkb:Sephardic_Jews
gptkb:Armenians
gptkb:Turks
people of Mediterranean descent
gptkbp:prognosis good with treatment
risk of renal failure if untreated
gptkbp:proteinAffected gptkb:pyrin
gptkbp:riskFactor family history
gptkbp:symptom abdominal pain
joint pain
chest pain
recurrent fever
erysipelas-like skin rash
gptkbp:treatment colchicine
gptkbp:bfsParent gptkb:FMF
gptkbp:bfsLayer 6