Human prion disease
Synonyms: TSE · Transmissible spongiform encephalopathy
- Type
- Category
- Group
- Group of disorders
- Age of onset
- Adult
- Status
- active
A group of rare neurodegenerative diseases characterized by the accumulation of prions, abnormal variants of the cellular prion protein, primarily in brain tissue of affected individuals, as well as massive, rapid neuronal death, and an invariably fatal course. Human prion diseases most often occur sporadically but may also be of genetic origin or infectiously acquired. Irrespective of etiology, they are transmissible to other individuals.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Human prion disease | TSE · Transmissible spongiform encephalopathy |
| fr | Maladie humaine à prions | EST · Encéphalopathie spongiforme transmissible |
| de | Humane Prionkrankheit | Enzephalopathie, spongiforme transmissible · TSE |
| es | Enfermedad priónica humana | Encefalopatía espongiforme transmisible · TSE |
| it | Malattia umana da prioni | Encefalopatia spongiforme trasmissibile · TSE |
| nl | Humane prionziekte | Overdraagbare spongiforme encefalopathie · TSE |
| pt | Encefalopatias espongiformes transmissíveis | |
| pl | Pasażowalna encefalopatia gąbczasta | Choroba prionowa |
| cs | Lidská prionová onemocnění | TSE · Transmisivní spongiformní encefalopatie |
| uk | Пріонна хвороба людини | Трансмісивна губчаста енцефалопатія · TSE |
| zh | 人朊病毒病 | 传染性海绵状脑病 |
| tr | İnsan prion hastalığı | TSE · Aktarılabilir spongiform ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018926 | E | validated | |
| MONDO | 18926 | E | validated | |
| MeSH | D017096 | E | validated | |
| UMLS | C0162534 | E | validated | |
| MedDRA | 10079301 | 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:98534Neurodegenerative disease with dementia
rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.15 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Not yet 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/56970
- This record as JSON: /data/d/56970.json