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Term:Creutzfeldt-Jakob disease
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Accession:DOID:11949 term browser browse the term
Definition:A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))
Synonyms:exact_synonym: CJD;   Creutzfeldt Jacob Disease;   Creutzfeldt Jacob syndrome;   Creutzfeldt-Jakob syndrome;   Familial Creutzfeldt-Jakob Diseases;   New Variant Creutzfeldt Jakob Disease;   Transmissible virus dementia;   V CJD (variant Creutzfeldt Jakob disease);   familial Creutzfeldt Jakob disease;   subacute spongiform encephalopathies;   subacute spongiform encephalopathy
 related_synonym: Protection Against Creutzfeldt-Jakob Disease
 primary_id: MESH:D007562;   RDO:0004437
 alt_id: OMIM:123400
 xref: GARD:6956;   ICD10CM:A81.0;   ICD10CM:A81.00;   ICD9CM:046.1;   NCI:C26802
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Creutzfeldt-Jakob disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a1 aldehyde dehydrogenase 1 family, member A1 JBrowse link 1 238,222,689 238,264,381 RGD:11554173
G Atf6 activating transcription factor 6 JBrowse link 13 89,053,457 89,242,531 RGD:11554173
G Cped1 cadherin-like and PC-esterase domain containing 1 JBrowse link 4 49,055,988 49,333,729 RGD:11554173
G Ctss cathepsin S JBrowse link 2 197,655,780 197,679,768 RGD:5686913
G Hist2h4a histone cluster 2 H4 family member A JBrowse link 4 170,800,539 170,800,979 RGD:11554173
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:10045948
G Klrc2 killer cell lectin like receptor C2 JBrowse link 4 163,433,993 163,445,136 RGD:11554173
G Krt73 keratin 73 JBrowse link 7 143,399,878 143,408,316 RGD:11554173
G Msl3l2 male-specific lethal 3-like 2 (Drosophila) JBrowse link 20 37,580,002 37,590,015 RGD:11554173
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:1599946
G Ptgs1 prostaglandin-endoperoxide synthase 1 JBrowse link 3 15,560,685 15,582,339 RGD:5688237
G Ptgs2 prostaglandin-endoperoxide synthase 2 JBrowse link 13 67,351,230 67,356,920 RGD:5688237
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:7240710
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:5508781
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:13506723
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 14 34,554,769 34,570,423 RGD:11554173
G Stx1a syntaxin 1A JBrowse link 12 24,682,050 24,710,002 RGD:1581434
G Tubb2a tubulin, beta 2A class IIa JBrowse link 17 31,493,145 31,496,827 RGD:11554173
Creutzfeldt-Jakob Disease, Sporadic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 JBrowse link 6 1,428,845 1,466,193 RGD:10395347
G Gucy1b1 guanylate cyclase 1 soluble subunit beta 1 JBrowse link 2 180,976,939 181,026,001 RGD:10401946

Term paths to the root
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Term Annotations click to browse term
  disease 0
    Diseases of the Aged 1226
      dementia 664
        Creutzfeldt-Jakob disease 20
          Acquired CJD 0
          Creutzfeldt-Jakob Disease, Heidenhain Variant 0
          Creutzfeldt-Jakob Disease, Sporadic 2
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              cognitive disorder 1897
                dementia 664
                  Creutzfeldt-Jakob disease 20
                    Acquired CJD 0
                    Creutzfeldt-Jakob Disease, Heidenhain Variant 0
                    Creutzfeldt-Jakob Disease, Sporadic 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.