MCID: FML161
MIFTS: 13

Familial Mediterranean Fever, Ar malady

Genetic category

Summaries for Familial Mediterranean Fever, Ar

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47OMIM, 33MalaCards
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MalaCards: Familial Mediterranean Fever, Ar is related to familial mediterranean fever and fatty liver disease. An important gene associated with Familial Mediterranean Fever, Ar is MEFV (Mediterranean fever).

Description from OMIM:47 249100

Aliases & Classifications for Familial Mediterranean Fever, Ar

Sources:
47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

familial mediterranean fever, ar 47


Related Diseases for Familial Mediterranean Fever, Ar

Sources:
17GeneCards, 18GeneDecks
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Diseases in the familial mediterranean fever family:

familial mediterranean fever type 1 familial mediterranean fever type 2
familial mediterranean fever, ar familial mediterranean fever, ad

Diseases related to Familial Mediterranean Fever, Ar via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial mediterranean fever10.2
2fatty liver disease10.2

Clinical Features for Familial Mediterranean Fever, Ar

Sources:
47OMIM
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Clinical features from OMIM:

249100

Clinical synopsis from OMIM:

249100

Drugs & Therapeutics for Familial Mediterranean Fever, Ar

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Familial Mediterranean Fever, Ar

Genetic Tests for Familial Mediterranean Fever, Ar

Anatomical Context for Familial Mediterranean Fever, Ar

Animal Models for Familial Mediterranean Fever, Ar or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Mediterranean Fever, Ar

Sources:
51PubMed
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Articles related to Familial Mediterranean Fever, Ar:

(show all 42)
idTitleAuthorsYear
1
Coexistence of familial Mediterranean fever and rheumatoid arthritis. (24261781)
2014
2
Paraoxonase 1 and arylesterase levels in children with familial Mediterranean fever. (23426541)
2013
3
Familial Mediterranean fever occurring in an elderly Japanese woman with recent-onset rheumatoid arthritis. (23370751)
2013
4
Two cases of familial Mediterranean fever associated with sarcoidosis (Lofgren's syndrome) and rheumatoid arthritis. (23981767)
2013
5
The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA. (23038988)
2013
6
Cu/Zn-superoxide dismutase, paraoxonase and arylesterase activities and malondialdehyde levels in patients with familial mediterranean fever. (22979914)
2012
7
Coexistence of Takayasu's arteritis with familial Mediterranean fever. (21416236)
2012
8
Coexistence of familial Mediterranean fever and rheumatoid arthritis. (23053718)
2012
9
The medical odyssey of a boy with arthritis of familial Mediterranean fever. (22462434)
2012
10
Economic impact of juvenile idiopathic arthritis and familial Mediterranean fever. (21461856)
2012
11
A case of Takayasu's arteritis associated with familial Mediterranean fever. (22935091)
2012
12
Effects of anti-tumor necrosis factor agents for familial mediterranean fever patients with chronic arthritis and/or sacroiliitis who were resistant to colchicine treatment. (21946459)
2011
13
Familial Mediterranean fever and seronegative arthritis. (21695514)
2011
14
The efficacy of canakinumab in the treatment of a patient with familial Mediterranean fever and longstanding destructive arthritis. (21345814)
2011
15
Arthritis patterns in familial Mediterranean fever patients and association with M694V mutation. (20845072)
2011
16
Novel protagonists in autoinflammatory arthritis of familial Mediterranean fever. (21727109)
2011
17
Coexistence of familial Mediterranean fever and juvenile idiopathic arthritis with osteoporosis successfully treated with etanercept. (20228604)
2010
18
Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations. (20485448)
2010
19
The prevalence of BehAset's syndrome, familial Mediterranean fever, HLA-B51 and MEFV gene mutations among ethnic Armenians living in Istanbul, Turkey. (20868574)
2010
20
Prevention of amyloidosis in familial Mediterranean fever with colchicine: a case-control study in Armenia. (19797919)
2009
21
Sulphasalazine treatment in protracted familial Mediterranean fever arthritis. (19034507)
2009
22
Cytokine profile of Armenian patients with Familial Mediterranean fever. (18440310)
2008
23
Evaluation of intima media thickness of the common and internal carotid arteries with inflammatory markers in familial Mediterranean fever as possible predictors for atherosclerosis. (18500463)
2008
24
Familial mediterranean fever gene (MEVF) mutations in Crohn's disease in a Mediterranean area. (18340637)
2008
25
Association of familial Mediterranean fever and celiac disease in a 14-year-old girl with recurrent arthritis. (19026136)
2008
26
Familial Mediterranean Fever in Armenian population. (18403822)
2008
27
Familial Mediterranean fever in northwest of Iran (Ardabil): the first global report from Iran. (18365590)
2008
28
Protracted familial mediterranean fever arthritis presenting as septic arthritis. (17387477)
2007
29
Juvenile psoriatic arthritis carrying familial Mediterranean fever gene mutations in a 14-year-old Turkish girl. (17408446)
2007
30
Arg753Gln TLR-2 polymorphism in familial mediterranean fever: linking the environment to the phenotype in a monogenic inflammatory disease. (17013994)
2006
31
Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. (16439335)
2006
32
MEFV mutations in familial Mediterranean fever: association of M694V homozygosity with arthritis. (14727057)
2005
33
Familial Mediterranean fever mimicking septic arthritis. (15700115)
2005
34
The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. (15942916)
2005
35
A case of familial Mediterranean fever and polyarteritis nodosa complicated by spontaneous perirenal and subcapsular hepatic hemorrhage requiring multiple arterial embolizations. (14712330)
2005
36
Different ELR (+) angiogenic CXC chemokine profiles in synovial fluid of patients with BehAset's disease, familial Mediterranean fever, rheumatoid arthritis, and osteoarthritis. (15672235)
2005
37
Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. (14578967)
2003
38
Comparison of synovial MMP-1 and TIMP-1 levels in patients with various inflammatory arthritides: is there any difference between rheumatoid arthritis, BehAset's disease and familial Mediterranean fever? (12447637)
2002
39
Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. (12077709)
2002
40
MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever. (11729572)
2001
41
Reflex sympathetic dystrophy arising in a patient with familial Mediterranean fever. (10651087)
1999
42
MEFV-Gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. (10364520)
1999

Genetic Variations for Familial Mediterranean Fever, Ar

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Mediterranean Fever, Ar:

63 (show all 42)
id Symbol AA change Variation SNP ID
1MEFVp.Glu148GlnVAR_009051rs3743930
2MEFVp.Glu167AspVAR_009052
3MEFVp.Thr267IleVAR_009054
4MEFVp.Pro369SerVAR_009055rs11466023
5MEFVp.Arg408GlnVAR_009056rs11466024
6MEFVp.Phe479LeuVAR_009057
7MEFVp.Thr681IleVAR_009059
8MEFVp.Met694IleVAR_009061rs28940578
9MEFVp.Met694ValVAR_009062
10MEFVp.Lys695ArgVAR_009064rs104895094
11MEFVp.Val726AlaVAR_009065rs28940579
12MEFVp.Arg761HisVAR_009067
13MEFVp.Leu110ProVAR_016824rs11466018
14MEFVp.Glu230LysVAR_016826rs104895080
15MEFVp.Arg653HisVAR_016828
16MEFVp.Ser675AsnVAR_016829
17MEFVp.Met680LeuVAR_016830
18MEFVp.Arg42TrpVAR_028326rs61754767
19MEFVp.Ser108ArgVAR_028327
20MEFVp.Glu148ValVAR_028328
21MEFVp.Glu163AlaVAR_028329
22MEFVp.Thr177IleVAR_028330
23MEFVp.Glu319LysVAR_028331
24MEFVp.Glu474LysVAR_028332
25MEFVp.Gly632SerVAR_028335
26MEFVp.Ile640MetVAR_028336
27MEFVp.Ile641PheVAR_028337
28MEFVp.Pro646LeuVAR_028338
29MEFVp.Leu649ProVAR_028339
30MEFVp.Glu656AlaVAR_028340
31MEFVp.Asp661AsnVAR_028341
32MEFVp.Gly678GluVAR_028342
33MEFVp.Met680IleVAR_028343rs28940580
34MEFVp.Tyr688CysVAR_028344
35MEFVp.Met694LeuVAR_028345
36MEFVp.Lys695MetVAR_028346rs104895094
37MEFVp.Val704IleVAR_028348
38MEFVp.Pro705SerVAR_028349
39MEFVp.Ile720MetVAR_028350
40MEFVp.Phe743LeuVAR_028351
41MEFVp.Pro758SerVAR_028352
42MEFVp.Pro780ThrVAR_028353

Expression for genes affiliated with Familial Mediterranean Fever, Ar

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Mediterranean Fever, Ar

Search GEO for disease gene expression data for Familial Mediterranean Fever, Ar.

Pathways for genes affiliated with Familial Mediterranean Fever, Ar

Compounds for genes affiliated with Familial Mediterranean Fever, Ar

GO Terms for genes affiliated with Familial Mediterranean Fever, Ar

Products for genes affiliated with Familial Mediterranean Fever, Ar

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Sources for Familial Mediterranean Fever, Ar

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet