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 12 in total
Gene ID Gene Symbol Description Source
12 SERPINA3 serpin family A member 3
2581 GALC galactosylceramidase
3119 HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
4137 MAPT microtubule associated protein tau
4744 NEFH neurofilament heavy chain
4747 NEFL neurofilament light chain
5621 PRNP prion protein (Kanno blood group)
5742 PTGS1 prostaglandin-endoperoxide synthase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
6622 SNCA synuclein alpha
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 11 - 20 of 58 in total
HPO ID HPO Term
HP:0000741 Apathy
HP:0000746 Delusion
HP:0000751 Personality changes
HP:0001250 Seizure
HP:0001289 Confusion
HP:0001324 Muscle weakness
HP:0001336 Myoclonus
HP:0001337 Tremor
HP:0001350 Slurred speech
HP:0002066 Gait 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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