ORPHA:204
Sporadic Creutzfeldt-Jakob disease
Synonyms: Sporadic CJD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare sporadic human prion disease characterized by rapidly progressive cognitive impairment in combination with variable neurologic signs and symptoms including myoclonus, visual or cerebellar problems, pyramidal or extrapyramidal features, or akinetic mutism. Brain imaging may show high signal intensity in caudate, putamen, and/or cortical regions, and a typical EEG pattern consisting of generalized periodic sharp wave complexes is observed in many cases. The disease is invariably fatal within less than two years. Neuropathologic examination reveals deposition of abnormal prion protein in brain tissue, as well as spongiform change and massive neuronal loss and gliosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sporadic Creutzfeldt-Jakob disease | Sporadic CJD |
| fr | Maladie de Creutzfeldt-Jakob sporadique | MCJ sporadique |
| de | Creutzfeldt-Jakob-Krankheit, sporadische | Sporadische CJD |
| es | Enfermedad de Creutzfeldt-Jakob esporádica | ECJ esporádica |
| it | Malattia di Creutzfeldt-Jakob sporadica | CJD sporadica |
| nl | Sporadische ziekte van Creutzfeldt-Jakob | Sporadische CJD |
| pt | Doença de Creutzfeldt-Jakob esporádica | |
| pl | Choroba Creutzfeldta i Jakoba | = en |
| cs | Sporadická Creutzfeldtova-Jakobova nemoc | Sporadická CJD · Sporadická Creutzfeldt-Jakobova nemoc |
| uk | Спорадична хвороба Кройцфельда-Якоба | Спорадична CJD |
| zh | 散发性克雅氏病 | 散发性克雅氏病 |
| tr | Sporadik Creutzfeldt-Jakob hastalığı | Sporadik CJD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123400 | NTBT | validated | |
| ICD-10 | A81.0 | NTBT | specific | validated |
| ICD-11 | 8E00 | E | specific | validated |
| MONDO | 0016079 | E | validated | |
| MeSH | C565143 | E | validated | |
| UMLS | C1852467 | E | validated | |
| GARD | 6956 | E | validated | |
| MedDRA | 10011384 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:576356Sporadic human prion disease
rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
50 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.125 / 100 000 | Australia | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0937 / 100 000 | Australia | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.152 / 100 000 | Austria | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.114 / 100 000 | Austria | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.117 / 100 000 | Belgium | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.087 / 100 000 | Belgium | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.105 / 100 000 | Canada | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.078 / 100 000 | Canada | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.12 / 100 000 | Czech Republic | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.09 / 100 000 | Czech Republic | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.104 / 100 000 | Cyprus | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.078 / 100 000 | Cyprus | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.147 / 100 000 | Denmark | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.11 / 100 000 | Denmark | Value and class | Validated | 31876504[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.032 / 100 000 | Estonia | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.024 / 100 000 | Estonia | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.141 / 100 000 | Finland | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.105 / 100 000 | Finland | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.16 / 100 000 | France | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.12 / 100 000 | France | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.133 / 100 000 | Germany | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.099 / 100 000 | Germany | Value and class | Validated | 31876504[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.062 / 100 000 | Greece | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0465 / 100 000 | Greece | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.0107 / 100 000 | Hungary | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | Hungary | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.142 / 100 000 | Italy | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1065 / 100 000 | Italy | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.123 / 100 000 | Netherlands | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.092 / 100 000 | Netherlands | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.102 / 100 000 | Norway | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0765 / 100 000 | Norway | Value and class | Validated | 31876504[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.0086 / 100 000 | Slovakia | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0645 / 100 000 | Slovakia | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.146 / 100 000 | Slovenia | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1095 / 100 000 | Slovenia | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.128 / 100 000 | Spain | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.096 / 100 000 | Spain | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.142 / 100 000 | Sweden | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1065 / 100 000 | Sweden | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.173 / 100 000 | Switzerland | Value and class | Validated | 31876504[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.129 / 100 000 | Switzerland | Value and class | Validated | 31876504[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.055 / 100 000 | Taiwan, Province of China | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.041 / 100 000 | Taiwan, Province of China | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.124 / 100 000 | United Kingdom | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.093 / 100 000 | United Kingdom | Value and class | Validated | 31876504[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.122 / 100 000 | United States | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.0915 / 100 000 | United States | Value and class | Validated | 31876504[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.088 / 100 000 | Worldwide | Value and class | Validated | 31876504[PMID]_ 32344417[PMID]_ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.118 / 100 000 | Worldwide | Value and class | Validated | 31876504[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
37 annotations · validated 2025-06-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012672 | Akinetic mutism | |
| HP:0006790 | Cerebral cortex with spongiform changes | |
| HP:0000726 | Dementia | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0002529 | Neuronal loss in central nervous system | |
| Frequent (79-30%) | ||
| HP:0002446 | Astrocytosis | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0002059 | Cerebral atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0001289 | Confusion | |
| HP:0002171 | Gliosis | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0002354 | Memory impairment | |
| HP:0001336 | Myoclonus | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0002719 | Recurrent infections | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0100806 | Sepsis | |
| HP:0002367 | Visual hallucinations | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000741 | Apathy | |
| HP:0003487 | Babinski sign | |
| HP:0000716 | Depression | |
| HP:0000712 | Emotional lability | |
| HP:0012378 | Fatigue | |
| HP:0002315 | Headache | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000737 | Irritability | |
| HP:0002371 | Loss of speech | |
| HP:0002360 | Sleep abnormality | |
| HP:0001257 | Spasticity | |
| HP:0002493 | Upper motor neuron dysfunction | |
| HP:0002321 | Vertigo | |
| HP:0000505 | Visual impairment | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 29939637[PMID]_28028861[PMID]_27222346[PMID]_30631881[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/204
- This record as JSON: /data/d/204.json