Disorder "Multiple Sclerosis"
Found 16 records
Disorder information
Disorder name:
Multiple Sclerosis
Disoder ID:
OMIM entry:
Synonyms:
chronic progressive multiple sclerosis (disorder),Generalized multiple sclerosis,insular sclerosis
Definition:
A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring
Modifier statisitcs
Record:
16
Gene:
11
Variant:
15
Reference:
7
Effect type:
Expressivity(16)
Modifier effect:
Altered severity(6)
,Risk factor(6)
,Altered onset time(3)
,Altered progression of MS(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MIF | MIF:c.-912_-911ins | Expressivity | Altered severity | P<0.01 | Polymorphic alleles of MIF polymorphisms could act as sex-specific disease modifiers that increase the severity and progression of MS in male Mexican-Mestizo western populationmore | more |
| MC1R | MC1R:c.478C>T(p.Arg160Trp) | Expressivity | Altered onset time | P=0.010-0.041 | PSMG4 p.W99R and NLRP5 p.R761L were found to correlate with an earlier age at MS clinical onset, and MC1R p.R160W with delayed onset of clinical symptoms (p=0.010-0.041).more | more |
| ITGA4 | ITGA4:c.1923-930C>T | Expressivity | Altered severity | P=3.00×10(-6) | SNPs rs6721763 of the ITGA4 and rs6532040 of the SPP1 were found to significantly influence disease severitymore | more |
| FN1 | FN1:c.1394-310T>C | Expressivity | Altered onset time | P=0.0002 | SNP rs1250249 of the FN1 had a dose-dependent effect on age at disease onsetmore | more |
| EIF2AK1 | EIF2AK1:p.Lys558Arg | Expressivity | Risk factor | P=0.023 | NLRP5 p.M459I and EIF2AK1 p.K558R were associated with primary progressive diseasemore | more |
| CACNA1H | CACNA1H:p.Arg1871Gln | Expressivity | Altered onset time | P=0.028 | CACNA1H p.R1871Q was found associated with patients presenting relapsing remitting MS at clinical onsetmore | more |