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 entries 1 - 10 of 51 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
248 ALPI alkaline phosphatase, intestinal
250 ALPP alkaline phosphatase, placental
275 AMT aminomethyltransferase
412 STS steroid sulfatase
847 CAT catalase
945 CD33 CD33 molecule
1113 CHGA chromogranin A
1116 CHI3L1 chitinase 3 like 1
1118 CHIT1 chitinase 1
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