Disorder "Prion Disease"
Found 2 records
Disorder information
Disorder name:
Prion Disease
Disoder ID:
Synonyms:
Prion disease pathway,Prion protein disease,Spongiform Encephalopathy,prion induced disorder,transmissible spongiform encephalopathy
Definition:
A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered onset time(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PRNP | PRNP:p.M129V | Expressivity | Altered onset time | From review article | Phenotypic heterogeneity and genetic modifiers in prion disease caused by a Pro102Leu mutation in the PRNP gene.more | more |
| APOE | APOE | Expressivity | Altered onset time | From review article | The APOE ε4 allele is associated with later disease onset in individuals with the Pro102Leu mutation.more | more |
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