Familial Mediterranean Fever, Ar malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Blood diseases, Immune diseases
50OMIM, 12diseasecard, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 69Wikipedia, 25GTR, 68UniProtKB/Swiss-Prot, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources
Aliases & Descriptions for Familial Mediterranean Fever, Ar:
Orphanet epidemiological data:52
familial mediterranean fever:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy
familial mediterranean fever, ar:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases, Bone diseases, Blood diseases, Immune diseases
ICD10: 29 28
Rare renal diseases
Rare systemic and rhumatological diseases
Rare immunological diseases
NIH Rare Diseases:46 Familial mediterranean fever (fmf) is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). these episodes are often accompanied by fever and sometimes a characteristic ankle rash. the first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. between attacks, people often do not have any symptoms. without treatment, fmf can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis). fmf is usually inherited in an autosomal recessive fashion and is caused by mutations in the mefv gene. treatment for fmf often involves use of a medication called colchicine. last updated: 12/8/2015
MalaCards based summary: Familial Mediterranean Fever, Ar, also known as familial mediterranean fever, is related to polyarteritis nodosa and hyper-igd syndrome, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Familial Mediterranean Fever, Ar is MEFV (Mediterranean Fever), and among its related pathways are Canonical NF-kappaB pathway and 14-3-3 and Regulation of BAD Activity. The drug colchicine has been mentioned in the context of this disorder. Affiliated tissues include lung, kidney and spinal cord, and related mouse phenotypes are integument and hematopoietic system.
Disease Ontology:11 A hypersensitivity reaction type ii disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the mefv gene, which encodes the protein pyrin.
Genetics Home Reference:24 Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort.
OMIM:50 Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and... (249100) more...
UniProtKB/Swiss-Prot:68 Familial Mediterranean fever, autosomal recessive: A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine.
GeneReviews summary for NBK1227
Symptoms by clinical synopsis from OMIM:249100
Clinical features from OMIM:249100
Symptoms:52 (show all 37)
HPO human phenotypes related to Familial Mediterranean Fever, Ar:(show all 48)
UMLS symptoms related to Familial Mediterranean Fever, Ar:abdominal pain, arthralgia, hepatomegaly
Drugs for Familial Mediterranean Fever, Ar (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 148)
Interventional clinical trials:(show top 50) (show all 167)
Search NIH Clinical Center for Familial Mediterranean Fever, Ar
Inferred drug relations via UMLS66/NDF-RT44:
MalaCards organs/tissues related to Familial Mediterranean Fever, Ar:34
Lung, Kidney, Spinal cord, Breast, Brain, Heart, B cells
MGI Mouse Phenotypes related to Familial Mediterranean Fever, Ar:39
Articles related to Familial Mediterranean Fever, Ar:
UniProtKB/Swiss-Prot genetic disease variations for Familial Mediterranean Fever, Ar:68 (show all 43)
Clinvar genetic disease variations for Familial Mediterranean Fever, Ar:5 (show all 21)
Copy number variations for Familial Mediterranean Fever, Ar from CNVD:6
Search GEO for disease gene expression data for Familial Mediterranean Fever, Ar.
Pathways related to Familial Mediterranean Fever, Ar according to GeneCards Suite gene sharing:(show all 24)
Cellular components related to Familial Mediterranean Fever, Ar according to GeneCards Suite gene sharing:
Biological processes related to Familial Mediterranean Fever, Ar according to GeneCards Suite gene sharing:(show all 35)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet