Creutzfeldt-Jakob disease

Summary
Synonym
  • CJD
  • Creutzfeldt Jacob syndrome
  • Creutzfeldt Jakob disease
  • Creutzfeldt-Jacob disease
  • Jakob-Creutzfeldt disease
  • Subacute spongiform encephalopathy
  • Transmissible virus dementia
Super Class
prion disease
Disease Ontology
DOID:11949
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
14420 Galc galactosylceramidase
14961 H2-Ab1 histocompatibility 2, class II antigen A, beta 1
16625 Serpina3c serine (or cysteine) peptidase inhibitor, clade A, member 3C
17762 Mapt microtubule-associated protein tau
18039 Nefl neurofilament, light polypeptide
19122 Prnp prion protein
19224 Ptgs1 prostaglandin-endoperoxide synthase 1
19225 Ptgs2 prostaglandin-endoperoxide synthase 2
20617 Snca synuclein, alpha
20714 Serpina3k serine (or cysteine) peptidase inhibitor, clade A, member 3K
Displaying all 6 entries
Gene ID Gene Symbol Description Source
24686 Prnp prion protein
24794 Serpina3c serine (or cysteine) proteinase inhibitor, clade A, member 3C
24795 Serpina3n serpin family A member 3N
29219 Snca synuclein alpha
29527 Ptgs2 prostaglandin-endoperoxide synthase 2
83613 Nefl neurofilament light chain
Displaying 1 entry
Gene ID Gene Symbol Description Source
34091 Spn28Dc Serpin 28Dc
Displaying 1 entry
Gene ID Gene Symbol Description Source
449649 galca galactosylceramidase a
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
446948 galc.L galactosylceramidase L homeolog Xenopus laevis (African clawed frog)
779723 galc galactosylceramidase Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
183002 C29E4.10 Putative galactocerebrosidase
The Human Phenotype Ontology
Displaying entries 41 - 50 of 58 in total
HPO ID HPO Term
HP:0010846 EEG with persistent abnormal rhythmic activity
HP:0011099 Spastic hemiparesis
HP:0012332 Abnormal autonomic nervous system physiology
HP:0012672 Akinetic mutism
HP:0100256 Senile plaques
HP:0100292 Amyloidosis of peripheral nerves
HP:0100661 Trigeminal neuralgia
HP:0100785 Insomnia
HP:0100786 Hypersomnia
HP:0000006 Autosomal dominant inheritance
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: February 17, 2025