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
External Links
Disease Ontology
DOID:4249
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description Source
5836 PYGL glycogen phosphorylase L
5837 PYGM glycogen phosphorylase, muscle associated
6476 SI sucrase-isomaltase
8972 MGAM maltase-glucoamylase
Related Glycoprotein
Displaying entries 11 - 12 of 12 in total
UniProt ID Protein Name Source
P54840 Glycogen [starch] synthase, liver
Q04446 1,4-alpha-glucan-branching enzyme
The Human Phenotype Ontology
Displaying entries 11 - 20 of 38 in total
HPO ID HPO Term
HP:0001315 Reduced tendon reflexes
HP:0100543 Cognitive impairment
HP:0002062 Abnormal pyramidal tract morphology
HP:0001268 Mental deterioration
HP:0003401 Paresthesia
HP:0001824 Weight loss
HP:0001257 Spasticity
HP:0002354 Memory impairment
HP:0000716 Depression
HP:0002070 Limb ataxia
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: August 19, 2024