Variably protease-sensitive prionopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare human prion disease characterized by accumulation of abnormal prion protein markedly less protease-resistant than in other prion diseases, depending on the genotype at codon 129 of the prion protein gene. No mutations are found in the coding sequence of the gene. Neuropathological analysis shows spongiform change and prion protein deposition with microplaques in the cerebellum. Patients present with slowly progressive cognitive and motor decline, psychiatric symptoms, ataxia, myoclonus, or tremor, among others. The disease is fatal and transmissible to other individuals.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Variably protease-sensitive prionopathy | |
| fr | Prionopathie de sensibilité variable aux protéases | |
| de | Variable Protease-sensitive Prionopathie | |
| es | Prionopatía variable sensible a proteasas | |
| it | Prionopatia variabilmente sensibile alla proteasi | |
| nl | Variabel proteasesensitieve prionopathie | |
| pt | Prionopatia sensível a protease, variável | |
| pl | Prionopatia ze zmienną wrażliwością na proteazę | |
| cs | Variabilní prionopatie senzitivní na proteázu | |
| uk | Варіабельна протеазочутлива пріонопатія | |
| zh | 多种蛋白酶敏感性疾病 | |
| tr | Değişken proteaz duyarlı prionopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | A81.8 | NTBT | attributed | validated |
| ICD-11 | 8E03 | E | specific | validated |
| MONDO | 0018692 | E | validated | |
| UMLS | C4303527 | 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 (2):
- ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases - ORPHA:576356Sporadic human prion disease
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/454742
- This record as JSON: /data/d/454742.json