Familial Mediterranean Fever, Ar malady
Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Blood diseases, Immune diseases
49OMIM, 11diseasecard, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 68Wikipedia, 24GTR, 35MedlinePlus, 67UniProtKB/Swiss-Prot, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
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Aliases & Descriptions for Familial Mediterranean Fever, Ar:
Orphanet epidemiological data:51
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: 28 27
Rare renal diseases
Rare systemic and rhumatological diseases
Rare immunological diseases
NIH Rare Diseases:45 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 lujo hemorrhagic fever and louse-borne relapsing fever, 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 Ceramide signaling pathway and Canonical NF-kappaB pathway. The drug colchicine has been mentioned in the context of this disorder. Affiliated tissues include breast, lung and testes, and related mouse phenotypes are immune system and homeostasis/metabolism.
Disease Ontology:10 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:23 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:49 Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and... (249100) more...
MedlinePlus:35 A fever is a body temperature that is higher than normal. it is not an illness. it is part of your body's defense against infection. most bacteria and viruses that cause infections do well at the body's normal temperature (98.6 f). a slight fever can make it harder for them to survive. fever also activates your body's immune system. infections cause most fevers. there can be many other causes, including medicines heat exhaustion cancers autoimmune diseases treatment depends on the cause of your fever. your health care provider may recommend using over-the-counter medicines such as acetaminophen or ibuprofen to lower a very high fever. adults can also take aspirin, but children with fevers should not take aspirin. it is also important to drink enough liquids to prevent dehydration.
UniProtKB/Swiss-Prot:67 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:51 (show all 39)
HPO human phenotypes related to Familial Mediterranean Fever, Ar:(show all 48)
UMLS symptoms related to Familial Mediterranean Fever, Ar:hepatomegaly, arthralgia, abdominal pain
Drugs for Familial Mediterranean Fever, Ar (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 887)
Interventional clinical trials:(show top 50) (show all 2228)
Search NIH Clinical Center for Familial Mediterranean Fever, Ar
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Familial Mediterranean Fever, Ar:33
Breast, Lung, Testes, Heart, Brain, Prostate, Kidney
Articles related to Familial Mediterranean Fever, Ar:
UniProtKB/Swiss-Prot genetic disease variations for Familial Mediterranean Fever, Ar:67 (show all 43)
Clinvar genetic disease variations for Familial Mediterranean Fever, Ar:5 (show all 21)
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 14)
Biological processes related to Familial Mediterranean Fever, Ar according to GeneCards Suite gene sharing:(show all 19)
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet