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
External Links
Disease Ontology
DOID:11949
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entry 51 - 51 of 51 in total
Gene ID Gene Symbol Description Source
79644 SRD5A3 steroid 5 alpha-reductase 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
14420 Galc galactosylceramidase
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 31 - 40 of 58 in total
HPO ID HPO Term
HP:0003487 Babinski sign
HP:0005327 Loss of facial expression
HP:0006943 Diffuse spongiform leukoencephalopathy
HP:0007009 Central nervous system degeneration
HP:0007017 Progressive forgetfulness
HP:0007158 Progressive extrapyramidal muscular rigidity
HP:0007183 Focal T2 hyperintense basal ganglia lesion
HP:0007256 Abnormal pyramidal sign
HP:0007686 Abnormal pupillary function
HP:0010542 Vestibular nystagmus
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