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 |
|---|---|---|---|---|---|---|
| GBA | GBA:c.1093G>A(p.Glu365Lys) | Expressivity | Risk factor | From review article | GBA mutations have been reported to modify the clinical presentation in PD, with carriers of GBA E326K polymorphism at increased risk for GBA-related cognitive deficitsmore | more |