Variant Creutzfeldt-Jakob disease
Synonyms: Variant MCJ · vCJD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare acquired human prion disease characterized by a progressive, invariably fatal neuropsychiatric disorder resulting from transmission via consumption of products from prion-diseased cows or via blood transfusion from an affected individual. Patients typically present early psychiatric symptoms (such as depression, anxiety, apathy, withdrawal, and delusions), as well as persistent painful sensory symptoms, ataxia, myoclonus, chorea, or dystonia, and dementia. Brain MRI often shows bilateral FLAIR hyperintensities involving the pulvinar thalamic nuclei. Neuropathological examination reveals spongiform change and extensive deposition of abnormal prion protein with florid plaques throughout the cerebrum and cerebellum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Variant Creutzfeldt-Jakob disease | Variant MCJ · vCJD |
| fr | Maladie de Creutzfeldt-Jakob variante | MCJ variante · v-MCJ |
| de | Creutzfeldt-Jakob-Krankheit, variante | vCJD · V-MCJ |
| es | Variante de la enfermedad de Creutzfeldt-Jakob | vCJD |
| it | Variante della malattia di Creutzfeldt-Jakob | Variante della MCJ · vCJD |
| nl | Variant van ziekte van Creutzfeldt-Jakob | Variant van CJD · vCJD |
| pt | Variante da doença Creutzfeldt-Jakob | |
| pl | Wariant choroby Creutzfeldta i Jakoba | = en |
| cs | Variantní Creutzfeldtova-Jakobova nemoc | Variantní Creutzfeldt-Jakobova nemoc |
| uk | Варіант хвороби Крейтцфельдта-Якоба | Варіант MCJ · vCJD |
| zh | 变异型克罗伊茨费尔特-雅各布病 | 新型MCJ |
| tr | Variant Creutzfeldt-Jakob hastalığı | vCJD · Varyant MCJ |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | A81.0 | NTBT | specific | validated |
| ICD-11 | 8E01.2 | E | specific | validated |
| MONDO | 0007012 | E | validated | |
| UMLS | C0376329 | E | validated | |
| GARD | 9550 | E | validated | |
| MedDRA | 10064199 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:454700Acquired Creutzfeldt-Jakob disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 233 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/576370
- This record as JSON: /data/d/576370.json