Disorder "Parkinson's disease"
Found 21 records
Disorder information
Disorder name:
Parkinson's disease
Disoder ID:
OMIM entry:
Synonyms:
Parkinson disease, paralysis agitans
Definition:
A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Modifier statisitcs
Record:
21
Gene:
3
Variant:
12
Reference:
3
Effect type:
Expressivity(20)
,Penetrance(1)
Modifier effect:
Altered postural instability and gait difficulty(9)
,Altered severity(9)
,Altered incidence(1)
,Altered onset time(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MTX1 | MTX1:rs760077 | Expressivity | Altered onset time | P<0.0001 | The homozygous MTX1 c.184A/A genotype was associated with a significantly earlier age of motor symptoms onset in patients with GBA mutationsmore | more |
| LRRK2 | LRRK2:rs34637584 | Penetrance | Altered incidence | From review article | Age-related penetrance for the most common LRRK2 Gly2019Ser mutation can range from ~30% to 70%more | more |
| GBA | GBA:c.914delC | Expressivity | Altered postural instability and gait difficulty | Combined GBA variants (β=0.38; 95% CI: 0.23-0.53; p=0.01) and e326k (β=0.64; 95% CI: 0.43-0.86; p=0.002) were associated with faster progression in postural instability and gait difficulty (pigd) scores | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more |
| GBA:c.914delC | Expressivity | Altered severity | GBA variants combined as a single group (β=4.01; 95% CI: 1.95-6.07; p=1.5×10-4) were associated with a more rapid decline in mds-updrs iii score. | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more | |
| GBA:p.Arg163* | Expressivity | Altered postural instability and gait difficulty | Combined GBA variants (β=0.38; 95% CI: 0.23-0.53; p=.01) and e326k (β=0.64; 95% CI: 0.43-0.86; p=.002) were associated with faster progression in postural instability and gait difficulty (pigd) scores | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more | |
| GBA:p.Arg163* | Expressivity | Altered severity | GBA variants combined as a single group (β=4.01; 95% CI: 1.95-6.07; p=1.5×10-4) were associated with a more rapid decline in mds-updrs iii score. | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more | |
| GBA:p.Arg496His | Expressivity | Altered postural instability and gait difficulty | Combined GBA variants (β=0.38; 95% CI: 0.23-0.53; p=.01) and e326k (β=0.64; 95% CI: 0.43-0.86; p=.002) were associated with faster progression in postural instability and gait difficulty (pigd) scores | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more | |
| GBA:p.Arg496His | Expressivity | Altered severity | GBA variants combined as a single group (β=4.01; 95% CI: 1.95-6.07; p=1.5×10-4) were associated with a more rapid decline in mds-updrs iii score. | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more | |
| GBA:p.Asn370Ser | Expressivity | Altered postural instability and gait difficulty | Combined GBA variants (β=0.38; 95% CI: 0.23-0.53; p=.01) and e326k (β=0.64; 95% CI: 0.43-0.86; p=.002) were associated with faster progression in postural instability and gait difficulty (pigd) scores | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more | |
| GBA:p.Asn370Ser | Expressivity | Altered severity | GBA variants combined as a single group (β=4.01; 95% CI: 1.95-6.07; p=1.5×10-4) were associated with a more rapid decline in mds-updrs iii score. | GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with PD, with a greater effect on PIGD than tremor.more | more |