Disorder "Familial Mediterranean Fever"
Found 9 records
Disorder information
Disorder name:
Familial Mediterranean Fever
Disoder ID:
OMIM entry:
Synonyms:
benign paroxysmal peritonitis
Definition:
An autoimmune hypersensitivity disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has material basis in mutations in the MEFV gene, which encodes the protein pyrin
Modifier statisitcs
Record:
9
Gene:
3
Variant:
9
Reference:
3
Effect type:
Penetrance(7)
,Expressivity(1)
,Pleiotropy(1)
Modifier effect:
Altered incidence(7)
,Altered renal amyloidosis(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SAA1 | SAA1 | Pleiotropy | Altered renal amyloidosis | OR=6. 9; 95% CI: 2.5-19.0 | Pleiotropymore | more |
| MEFV | MEFV:c.442G>C(p.Glu148Gln) | Expressivity | Altered severity | N=97, P=0.01, 95% CI: 1.74 to 128 | The E148Q mutation, is an independent modifier of the clinical manifestations of RA.more | more |
| HLA | HLA:(B*39:01) | Penetrance | Altered incidence | OR=3.25, P=0.0012 | Affect penetrance of the MEFV mutationsmore | more |
| HLA:(B*40:01) | Penetrance | Altered incidence | OR=2.62, 95% CI:(1.38–4.94), P=0.0023 | Affect penetrance of the MEFV mutationsmore | more | |
| HLA:(B*44:03) | Penetrance | Altered incidence | OR=0.63, 95% CI: (0.39– 1.00), P=0.047 | Affect penetrance of the MEFV mutationsmore | more | |
| HLA:(B*52:01) | Penetrance | Altered incidence | OR=0.42, 95% CI: (0.25–0.73), P=0.0013 | Affect penetrance of the MEFV mutationsmore | more | |
| HLA:(DRB1*04:03) | Penetrance | Altered incidence | OR= 3.43, 95% CI: (1.31–8.97), P=0.0075 | Affect penetrance of the MEFV mutationsmore | more | |
| HLA:(DRB1*08:02) | Penetrance | Altered incidence | OR=3.19, 95% CI: (1.53–6.66), P=0.0011 | Affect penetrance of the MEFV mutationsmore | more | |
| HLA:(DRB1*15:02) | Penetrance | Altered incidence | OR=0.45, P=0.00050 | Affect penetrance of the MEFV mutationsmore | more |
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