Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Human prion disease
Synonyms

TSE

Transmissible spongiform encephalopathy
Definitions

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.
ID

http://www.orpha.net/ORDO/Orphanet_56970
alternative_term

TSE

Transmissible spongiform encephalopathy
definition

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.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=56970
has_age_of_onset

Adult
hasDbXref

MeSH:D017096

UMLS:C0162534
label

Human prion disease
notation

ORPHA:56970

Category
prefixIRI

ORDO:Orphanet_56970
prefLabel

Human prion disease
present_in

Europe AND has_annual_incidence_average_value : 0.15 AND has_annual_incidence_range : 1-9 / 1 000 000

Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000
subClassOf

http://www.orpha.net/ORDO/Orphanet_557492

http://www.orpha.net/ORDO/Orphanet_98534
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