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 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
353 APRT adenine phosphoribosyltransferase
1581 CYP7A1 cytochrome P450 family 7 subfamily A member 1
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2542 SLC37A4 solute carrier family 37 member 4
2632 GBE1 1,4-alpha-glucan branching enzyme 1
2992 GYG1 glycogenin 1
2998 GYS2 glycogen synthase 2
4190 MDH1 malate dehydrogenase 1
5621 PRNP prion protein (Kanno blood group)
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 1 - 10 of 38 in total
HPO ID HPO Term
HP:0002066 Gait ataxia
HP:0001284 Areflexia
HP:0007340 Lower limb muscle weakness
HP:0001260 Dysarthria
HP:0002360 Sleep abnormality
HP:0012534 Dysesthesia
HP:0001317 Abnormal cerebellum morphology
HP:0000726 Dementia
HP:0002071 Abnormality of extrapyramidal motor function
HP:0011730 Abnormal central sensory function
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