Inherited Creutzfeldt-Jakob disease: genes and variants
Inherited Creutzfeldt-Jakob disease is linked to 1 analyzed protein (PRNP). 4 DNA variants are known to cause it; 0 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Inherited Creutzfeldt-Jakob disease
PRNP: Major prion protein
Its normal cellular form is enriched in the nervous system, but misfolding into self-propagating conformations can template further protein conversion. This process causes prion diseases, while germline pathogenic variants underlie inherited Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker disease, and fatal familial insomnia.
4 disease-causing and 0 uncertain variants in PRNP are linked to Inherited Creutzfeldt-Jakob disease.
Known disease-causing variants in Inherited Creutzfeldt-Jakob disease
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PRNP R148H | 148 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing (★★) |
| PRNP D178N | 178 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing |
| PRNP E211Q | 211 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing |
| PRNP M129V | 129 | Interaction with GRB2, ERI3 and SYN1 | Disease-causing |
Same protein, different disease
- Huntington disease-like 1 is also caused by PRNP variants; they fall partly in the same places as the Inherited Creutzfeldt-Jakob disease variants (13 disease-causing).
- Gerstmann-Straussler-Scheinker syndrome is also caused by PRNP variants; they fall mostly in different places as the Inherited Creutzfeldt-Jakob disease variants (8 disease-causing).
- Spongiform encephalopathy with neuropsychiatric features is also caused by PRNP variants; they fall mostly in different places as the Inherited Creutzfeldt-Jakob disease variants (4 disease-causing).
Diseases related to Inherited Creutzfeldt-Jakob disease
- Huntington disease-like 1, also linked to PRNP
- Gerstmann-Straussler-Scheinker syndrome, also linked to PRNP
- Spongiform encephalopathy with neuropsychiatric features, also linked to PRNP
- Fatal familial insomnia, also linked to PRNP
- Dementia, also linked to PRNP
- Kuru, susceptibility to, also linked to PRNP
Frequently asked questions
Which genes are linked to Inherited Creutzfeldt-Jakob disease?
In CATVariant, Inherited Creutzfeldt-Jakob disease is linked to 1 analyzed protein: PRNP (Major prion protein).
How many genetic variants are linked to Inherited Creutzfeldt-Jakob disease?
9 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 0 are of uncertain significance or have conflicting reports.
Which uncertain variants in Inherited Creutzfeldt-Jakob disease look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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