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 11 - 12 of 12 in total
Gene ID Gene Symbol Description Source
6804 STX1A syntaxin 1A
7532 YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
Displaying entries 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
20716 Serpina3n serine (or cysteine) peptidase inhibitor, clade A, member 3N
20717 Serpina3m serine (or cysteine) peptidase inhibitor, clade A, member 3M
20907 Stx1a syntaxin 1A (brain)
22628 Ywhag tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
74069 Serpina3a serine (or cysteine) peptidase inhibitor, clade A, member 3A
238393 Serpina3f serine (or cysteine) peptidase inhibitor, clade A, member 3F
238395 Serpina3j serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3J
271047 Serpina3b serine (or cysteine) peptidase inhibitor, clade A, member 3B
380684 Nefh neurofilament, heavy polypeptide
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:0003596 Middle age onset
HP:0001269 Hemiparesis
HP:0000505 Visual impairment
HP:0002381 Aphasia
HP:0001317 Abnormal cerebellum morphology
HP:0000006 Autosomal dominant inheritance
HP:0002354 Memory impairment
HP:0003678 Rapidly progressive
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