inherited Creutzfeldt-Jakob disease
Findings
No curated finding names inherited Creutzfeldt-Jakob disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.
Definition from the Mondo Disease Ontology (MONDO:0007403), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
50 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormality of visionHPOHP:0000504
- Frequent (30% to 79% of cases)
- Akinetic mutismHPOHP:0012672
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Frequent (30% to 79% of cases)
- ApathyHPOHP:0000741
- Frequent (30% to 79% of cases)
- AstrocytosisHPO
Show the remaining 38
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- DepressionHPOHP:0000716
- Frequent (30% to 79% of cases)
- Diffuse spongiform leukoencephalopathyHPOHP:0006943
- Frequent (30% to 79% of cases)
- EEG with persistent abnormal rhythmic activityHPOHP:0010846
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:9449HGNC:9449
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: inherited Creutzfeldt-Jakob disease
- Also called
- Creutzfeldt-Jakob disease, variant, resistance tohereditary Creutzfeldt Jacob diseaseinherited CJD