Gerstmann-Straussler-Scheinker syndrome

Summary
Synonym
  • Gerstmann-Straussler-Scheinker disease
  • PRION DEMENTIA
Definition
A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
Super Class
prion disease
Disease Ontology
DOID:4249
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
19122 Prnp prion protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
24686 Prnp prion protein
The Human Phenotype Ontology
Displaying entries 11 - 20 of 38 in total
HPO ID HPO Term
HP:0011730 Abnormal central sensory function
HP:0001315 Reduced tendon reflexes
HP:0002071 Abnormality of extrapyramidal motor function
HP:0001824 Weight loss
HP:0001257 Spasticity
HP:0002354 Memory impairment
HP:0000716 Depression
HP:0002070 Limb ataxia
HP:0007772 Impaired smooth pursuit
HP:0001300 Parkinsonism
Displaying 1 entry
Gene ID Gene Symbol Description
5621 PRNP prion protein (Kanno blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024