|
Chest Pain
|
|
0.010 |
GeneticVariation
|
BEFREE |
Chest pain was reported more often in patients homozygous for M694V (61.4%).
|
30284126 |
2019 |
|
Recurrent abdominal pain
|
|
0.010 |
GeneticVariation
|
BEFREE |
Recurrent abdominal pain and arthritis/arthralgia were commonly observed in patients with M694V and R202Q mutations.
|
30284126 |
2019 |
|
Chronic arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
M694V genotype seems to be more frequently associated with arthritis as well as with chronic arthritis than other genotypes.
|
28828621 |
2018 |
|
Chronic Periodontitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
The complex R202Q/M694V homozygous state led to an increased risk of chronic periodontitis (odds ratio: 3.6), and FMF-A (odds ratio: 7.6).
|
28590056 |
2017 |
|
Periodontitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
These results indicate that the presence of homozygous M694V gene mutation seems to increase the risk for periodontitis</span> in FMF patients.
|
26400644 |
2016 |
|
Keratoconus
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three of 33 patients with a homozygous mutation (9.1%) (M694V/M694V in 2 cases and M680I/M680I in 1 case) and 1 of the 46 patients with a compound heterozygous mutation (2.2%) (M694V/M680I) had KC, whereas none of the 21 patients with a heterozygous mutation (0%) had KC.
|
26509767 |
2016 |
|
Lupus Nephritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A single patient in the SLE-Nephritis group was compound heterozygous for M694V/M680I mutations and only one patient in the SLE-Mild group was homozygous for E148Q mutation.
|
25413357 |
2015 |
|
Leukemia, Myelomonocytic, Chronic
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome.
|
26076658 |
2015 |
|
Headache
|
|
0.010 |
GeneticVariation
|
BEFREE |
Abdominal pain was observed in 91 (88.3 %) of the patients, fever in 82 (79.6 %), arthritis in 27 (26.2 %), pleuritis in 7 (6.7.5 %), rash and erysipelas-like erythema in 5 (4.8 %), myalgia in 5 (4.8 %), headache in 5 (4.8 %) and Henoch-Schonlein purpura in 1 (0.97 %).The most frequent mutation was M694V.
|
25150514 |
2015 |
|
Lupus Erythematosus, Systemic
|
|
0.010 |
GeneticVariation
|
BEFREE |
A single patient in the SLE-Nephritis group was compound heterozygous for M694V/M680I mutations and only one patient in the SLE-Mild group was homozygous for E148Q mutation.
|
25413357 |
2015 |
|
Erythema
|
|
0.010 |
GeneticVariation
|
BEFREE |
Abdominal pain was observed in 91 (88.3 %) of the patients, fever in 82 (79.6 %), arthritis in 27 (26.2 %), pleuritis in 7 (6.7.5 %), rash and erysipelas-like erythema in 5 (4.8 %), myalgia in 5 (4.8 %), headache in 5 (4.8 %) and Henoch-Schonlein purpura in 1 (0.97 %).The most frequent mutation was M694V.
|
25150514 |
2015 |
|
Vasculitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We observed that in children severe phenotypes with polyserositis, erysipelas-like erythema, splenomegaly, and vasculitis are associated with high penetrance of exon 10 mutations, particularly M694V.
|
23907647 |
2014 |
|
Febrile Convulsions
|
|
0.010 |
GeneticVariation
|
BEFREE |
MEFV gene mutations, especially M694V mutation, are positively associated with FSs.
|
24668705 |
2014 |
|
Pleurisy
|
|
0.010 |
GeneticVariation
|
BEFREE |
M694V homozygosity was associated with an earlier FMF onset (median age 5.5 years, p = 0.0001) and a higher prevalence of peritonitis (p = 0.007) and pleuritis (p = 0.0007) compared to patients without an M694V mutation.
|
23137073 |
2013 |
|
Enthesopathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
Does enthesopathy relate to M694V gene mutation in patients with Familial Mediterranean fever?
|
23812619 |
2013 |
|
Crohn Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Contribution of M694V was higher compared with the other variations (14.5% in CD, 17.3% in UC and 3% in controls, odds ratio =6.039, 95% confidence intervals, 1.7-20.7, P=0.002).
|
22810105 |
2013 |
|
Degenerative polyarthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
M694V was the most frequent mutation (5%) in the osteoarthritis group, whereas in the control group, E148Q was the most common (16%).
|
24009456 |
2013 |
|
Acute orchitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Acute orchitis and protracted febrile myalgia as rare clinical findings were more common in M694V homozygotes.
|
22057232 |
2012 |
|
Multiple Sclerosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Homozygosity for the M694V MEFV mutation may aggravate the phenotype of MS and predispose FMF patients to develop MS.
|
21299735 |
2011 |
|
Abdominal Pain
|
|
0.010 |
GeneticVariation
|
BEFREE |
M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis.
|
19777236 |
2010 |
|
Neoplasms
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, the statistically significant predominance of strong heterozygous mutations such as M694V and M680I in patients with hematolymphoid neoplasm; none had own and/or family history compatible with FMF, is interesting.
|
20518828 |
2010 |
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
M694V was the only variant that was significantly more common in the AS group than in the combined or individual control groups (P = 0.026 for AS patients versus healthy controls, P = 0.046 for AS patients versus RA patient controls, and P = 0.008 for AS patients versus healthy and RA patient control groups).
|
20533539 |
2010 |
|
Spondylarthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
HLA-B27 positivity and/or M694V mutation may play a role in the development of sacroiliitis and the severity of seronegative spondyloarthropathy.
|
18795391 |
2009 |
|
Spondylarthropathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
HLA-B27 positivity and/or M694V mutation may play a role in the development of sacroiliitis and the severity of seronegative spondyloarthropathy.
|
18795391 |
2009 |
|
Systemic onset juvenile chronic arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Among these, M694V was the leading mutation with a frequency of 10% in SoJIA.
|
18984609 |
2009 |