VCJD
MCID: VRN002
MIFTS: 45

Variant Creutzfeldt-Jakob Disease (VCJD) malady

Summaries for Variant Creutzfeldt-Jakob Disease

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 There are several known variants of creutzfeldt-jakob disease (cjd). these variants differ somewhat in the symptoms and course of the disease. for example, a variant form of the disease-called new variant or variant (nv-cjd, v-cjd), described in great britain and france, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. new variant cjd accounts for less than 1% of cases, and tends to affect younger people. it can result when someone is exposed to contaminated products. while classic cjd is not related to mad cow disease, new variant cjd (nvcjd) is an infectious form that is related to mad cow disease. the infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vcjd in humans. there have not been any cases of nvcjd reported in the u.s.another variant, called the panencephalopathic form, occurs primarily in japan and has a relatively long course, with symptoms often progressing for several years. scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease. last updated: 1/28/2009

MalaCards: Variant Creutzfeldt-Jakob Disease, also known as new variant creutzfeldt-jakob disease, is related to bovine spongiform encephalopathy and scrapie. An important gene associated with Variant Creutzfeldt-Jakob Disease is HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1). The compounds glutamate and Insulin, porcine have been mentioned in the context of this disorder. Affiliated tissues include spleen, brain and cortex, and related mouse phenotypes are mortality/aging and immune system.

Description from OMIM:47 123400

Aliases & Classifications for Variant Creutzfeldt-Jakob Disease

Sources:
43NIH Rare Diseases, 47OMIM, 61UMLS
See all sources

Aliases & Descriptions:

variant creutzfeldt-jakob disease 43
new variant creutzfeldt-jakob disease 61
creutzfeldt-jakob disease, variant 47
variant creutzfeldt-jacob disease 43
new variant of cjd 43
variant cjd 43
nv-cjd 43
vcjd 43


Related Diseases for Variant Creutzfeldt-Jakob Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the creutzfeldt-jakob syndrome family:

variant creutzfeldt-jakob disease familial creutzfeldt-jakob disease

Diseases related to Variant Creutzfeldt-Jakob Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1bovine spongiform encephalopathy31.5PRNP
2scrapie30.7PRND, PRNP
3creutzfeldt-jakob syndrome30.4PRND, TPPP3, APOE, ENO2, PRNP
4alzheimer's disease30.4CTSD, APOE, TBP, PRND, PRNP
5brain disease10.8
6dent's disease10.6
7blood protein disease10.5
8hemoglobin d disease10.3
9hemoglobin c disease10.3
10alpers syndrome10.3
11wernicke encephalopathy10.3
12n syndrome10.3
13tauopathy10.3
14visual cortex disease10.3
15young syndrome10.3
16devic disease10.3
17chorea10.3
18nutrition disease10.3
19subacute sclerosing panencephalitis10.1
20myoclonus10.1
21genetic prion diseases10.0PRNP
22amyotrophic lateral sclerosis10.0PRNP
23multiple system atrophy10.0PRNP
24encephalitis10.0TPPP3
25spinocerebellar ataxia type 310.0TBP
26malaria10.0TBP
27persistent vegetative state10.0ENO2
28myositis10.0PRNP
29down syndrome10.0APOE
30prion disease10.0PRND, PRNP
31spinocerebellar ataxia type 1210.0TBP, PRNP
32dentatorubral-pallidoluysian atrophy10.0PRNP, TBP
33neuroblastoma10.0PRNP, ENO2
34ischemia10.0CTSD, AHSP
35coronary heart disease10.0AHSP, APOE
36spinocerebellar ataxia10.0TBP, PRNP
37huntington's disease10.0PRNP, TBP, TPPP3
38colorectal cancer10.0CTSD, RARB
39dysautonomia10.0PRNP
40astrocytoma10.0PRND, PRNP, RARB
41progressive supranuclear palsy10.0APOE, PRNP
42age related macular degeneration10.0CTSD, APOE
43lewy body dementia10.0PRNP, APOE
44vascular dementia10.0PRNP, APOE
45tubular adenocarcinoma10.0CTSD, ENO2
46familial creutzfeldt-jakob disease10.0PRNP, PRND, APOE
47alzheimer disease type 210.0APOE, CTSD
48schizophrenia10.0TPPP3, HLA-DQB1, TBP
49ovarian cancer10.0CTSD, RARB
50stomach cancer10.0RARB, CTSD, PRNP

Graphical network of the top 20 diseases related to Variant Creutzfeldt-Jakob Disease:



Diseases related to variant creutzfeldt-jakob disease

Clinical Features for Variant Creutzfeldt-Jakob Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

123400

Clinical synopsis from OMIM:

123400

Drugs & Therapeutics for Variant Creutzfeldt-Jakob Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Variant Creutzfeldt-Jakob Disease

Drug clinical trials:

Search ClinicalTrials for Variant Creutzfeldt-Jakob Disease

Search NIH Clinical Center for Variant Creutzfeldt-Jakob Disease

Search CenterWatch for Variant Creutzfeldt-Jakob Disease

Genetic Tests for Variant Creutzfeldt-Jakob Disease

Anatomical Context for Variant Creutzfeldt-Jakob Disease

Sources:
33MalaCards
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MalaCards organs/tissues related to Variant Creutzfeldt-Jakob Disease:

33
Spleen, Brain, Cortex, Cerebellum, Small intestine, Liver, Tonsil, T cells, Thalamus, Appendix, Pituitary

Animal Models for Variant Creutzfeldt-Jakob Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Variant Creutzfeldt-Jakob Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7RARB, AHSP, TBP, PRNP, HLA-DQB1, CTSD
2MP:00053877.6APOE, CTSD, HLA-DQB1, PRND, PRNP, AHSP
3MP:00053977.6APOE, RARB, IL7, AHSP, PRNP, HLA-DQB1
4MP:00053867.3SPRN, APOE, CTSD, HLA-DQB1, PRND, PRNP
5MP:00036317.1CTSD, HLA-DQB1, PRND, PRNP, RARB, ENO2

Publications for Variant Creutzfeldt-Jakob Disease

Sources:
51PubMed
See all sources

Articles related to Variant Creutzfeldt-Jakob Disease:

(show top 50)    (show all 374)
idTitleAuthorsYear
1
Constant transmission properties of variant Creutzfeldt-Jakob disease in 5 countries. (23017202)
2012
2
Creutzfeldt-Jakob disease revealed by a logopenic variant of primary progressive aphasia. (22614571)
2012
3
Heparin enhances the cell-protein misfolding cyclic amplification efficiency of variant Creutzfeldt-Jakob disease. (21565253)
2011
4
Variant Creutzfeldt-Jakob disease in a transfusion recipient: coincidence or cause? (20230536)
2010
5
Dispersion of prion protein deposits around blood vessels in variant Creutzfeldt-Jakob disease. (20924999)
2010
6
Report of the Working Group 'Overall Blood Supply Strategy with Regard to Variant Creutzfeldt-Jakob Disease (vCJD)': Statement on the Development and Implementation of Test Systems Suitable for the Screening of Blood Donors for vCJD - Dated September 17, 2008. (21048823)
2009
7
Review. The neuropathology of kuru and variant Creutzfeldt-Jakob disease. (18849282)
2008
8
The variant Creutzfeldt-Jakob Disease: Risk, uncertainty or safety in the use of blood and blood derivatives? (18573217)
2008
9
alpha-Hemoglobin stabilizing protein is not a suitable marker for a screening test for variant Creutzfeldt-Jakob disease. (18503615)
2008
10
Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report. (17161728)
2006
11
Protease-resistant prion protein in lymphoreticular tumors of variant Creutzfeldt-Jakob disease mice. (16704797)
2006
12
Risk factors for variant Creutzfeldt-Jakob disease: a case-control study. (16287153)
2006
13
Variant Creutzfeldt-Jakob disease: prion protein genotype analysis of positive appendix tissue samples from a retrospective prevalence study. (16606639)
2006
14
Risk assessment of variant Creutzfeldt-Jakob disease in cosmetics. (16276156)
2005
15
Commentary: The risk of variant Creutzfeldt-Jakob Disease: reassurance and uncertainty. (15649957)
2005
16
Risk of variant Creutzfeldt-Jakob disease in France. (15649960)
2005
17
Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. (14962520)
2004
18
Methionine 129 variant of human prion protein oligomerizes more rapidly than the valine 129 variant: implications for disease susceptibility to Creutzfeldt-Jakob disease. (15131108)
2004
19
Variant Creutzfeldt-Jakob disease and prions in the blood supply. (16163166)
2004
20
Advances in the detection of prion protein in peripheral tissues of variant Creutzfeldt-Jakob disease patients using paraffin-embedded tissue blotting. (15305981)
2004
21
Predicting incidence of variant Creutzfeldt-Jakob disease from UK dietary exposure to bovine spongiform encephalopathy for the 1940 to 1969 and post-1969 birth cohorts. (14559750)
2003
22
Age and variant Creutzfeldt-Jakob disease. (14720404)
2003
23
Variant Creutzfeldt-Jakob disease and the potential for its accidental transmission following surgery with contaminated instruments: the risk of transmission in Australia. (12862389)
2003
24
The neuropsychological profile associated with variant Creutzfeldt-Jakob disease. (12937072)
2003
25
Magnetic resonance spectroscopic abnormalities in sporadic and variant Creutzfeldt-Jakob disease. (12623045)
2003
26
Comparison of the neuropathological characteristics of bovine spongiform encephalopathy (BSE) and variant Creutzfeldt-Jakob disease (vCJD) in mice. (12787323)
2003
27
Neuropathology of variant Creutzfeldt-Jakob disease. (11862618)
2002
28
Tonsillectomy and variant Creutzfeldt-Jakob disease. (11902091)
2002
29
Risks of bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease in the United States. (11898487)
2002
30
MR spectroscopic pulvinar sign in a case of variant Creutzfeldt-Jakob disease. (12538948)
2002
31
Pathological diagnosis of variant Creutzfeldt-Jakob disease. (12064259)
2002
32
First hundred cases of variant Creutzfeldt-Jakob disease: retrospective case note review of early psychiatric and neurological features. (12077031)
2002
33
New variant Creutzfeldt-Jakob disease--is our practice safe? (11412169)
2001
34
Afterthoughts about bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease. (11485682)
2001
35
Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease. (11290640)
2001
36
Use of 14-3-3 and other brain-specific proteins in CSF in the diagnosis of variant Creutzfeldt-Jakob disease. (11385008)
2001
37
Variant Creutzfeldt-Jakob disease: a summary of current scientific knowledge in relation to public health. (11468957)
2001
38
EDRF transcripts and diagnosis of variant Creutzfeldt-Jakob disease. (11445093)
2001
39
The impact of Creutzfeldt-Jakob disease and variant Creutzfeldt-Jakob disease on plasma safety. (11441420)
2001
40
Variant Creutzfeldt-Jakob disease--information from the World Health Organization. (11605332)
2001
41
Electron microsocopy of brain amyloid plaques from a patient with new variant Creutzfeldt-Jakob disease. (10867797)
2000
42
Ultrastructural analysis of the florid plaque in variant Creutzfeldt-Jakob disease. (11693720)
2000
43
'New variant' Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (10700223)
2000
44
Incidence of variant Creutzfeldt-Jakob disease in the UK. (10981894)
2000
45
Variant Creutzfeldt-Jakob disease. (10914416)
2000
46
Creutzfeldt-Jakob disease, new variant creutzfeldt-jakob disease, and bovine spongiform encephalopathy. (10517931)
1999
47
New variant Creutzfeldt-Jakob disease and bovine pituitary growth hormone. (9439502)
1998
48
Early identification of variant Creutzfeldt-Jakob disease. (9518890)
1998
49
New variant Creutzfeldt-Jakob disease. (9737381)
1998
50
Diagnosis of new variant Creutzfeldt-Jakob disease by tonsil biopsy. (9142081)
1997

Genetic Variations for Variant Creutzfeldt-Jakob Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Variant Creutzfeldt-Jakob Disease:

63
id Symbol AA change Variation SNP ID
1PRNPp.Asp178AsnVAR_006469
2PRNPp.Val180IleVAR_006470
3PRNPp.Glu200LysVAR_006473
4PRNPp.Arg208HisVAR_006474
5PRNPp.Val210IleVAR_006475
6PRNPp.Met232ArgVAR_006478
7PRNPp.Glu196LysVAR_008749
8PRNPp.Val203IleVAR_008751
9PRNPp.Glu211GlnVAR_008752

Expression for genes affiliated with Variant Creutzfeldt-Jakob Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Variant Creutzfeldt-Jakob Disease

Search GEO for disease gene expression data for Variant Creutzfeldt-Jakob Disease.

Pathways for genes affiliated with Variant Creutzfeldt-Jakob Disease

Compounds for genes affiliated with Variant Creutzfeldt-Jakob Disease

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Variant Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1glutamate4510.3AHSP, PRNP
2Insulin, porcine1110.2CTSD, HLA-DQB1
3hemocyanin4510.0IL7, PRNP
4cysteamine45 11 2411.9CTSD, APOE
5gliadin459.8IL7, HLA-DQB1
6sodium dodecylsulfate459.8APOE, PRNP, TBP
7agarose459.7TBP, PRNP, CTSD
8histidine459.6CTSD, HLA-DQB1, PRNP, TBP
9edss459.6ENO2, APOE
10valine459.5PRNP, PRND, CTSD, APOE
11alpha tocopherol459.3APOE, CTSD, TBP, RARB
12formaldehyde45 2410.1ENO2, TBP, PRNP, CTSD
13iron45 2410.1ENO2, AHSP, TBP, PRNP
14ibmx45 29 6011.0APOE, RARB, ENO2
15hyaluronic acid45 2410.0ENO2, CTSD, APOE
16pge2459.0CTSD, PRNP, AHSP, IL7, RARB
17guanine45 11 2410.9ENO2, TBP, APOE
18paraffin458.9ENO2, PRNP, CTSD, APOE
19dmso458.9CTSD, PRNP, RARB, ENO2
20aspartate458.7APOE, CTSD, HLA-DQB1, PRNP, ENO2
21glutamine458.7APOE, CTSD, HLA-DQB1, TBP, ENO2
22leucine458.7CTSD, PRNP, TBP, ENO2
23glyceraldehyde 3-phosphate458.7CTSD, TBP, ENO2
24cisplatin45 50 60 1111.7CTSD, TBP, RARB, ENO2
25thymidine45 249.5CTSD, IL7, RARB, ENO2
26cysteine458.5APOE, CTSD, TBP, AHSP, IL7, RARB
27progesterone45 60 29 11 2412.3CTSD, TBP, IL7, RARB, ENO2
28adenylate458.3ENO2, RARB, TBP, CTSD
29oxygen45 249.3CTSD, PRNP, TBP, AHSP, IL7, ENO2
30atp45 299.3CTSD, PRNP, TBP, AHSP, IL7, ENO2
31dopamine45 29 11 2411.3APOE, AHSP, RARB, ENO2, TPPP3
32serine458.3APOE, CTSD, STMN2, PRNP, TBP, IL7
33heparin45 29 11 2411.3APOE, CTSD, PRNP, AHSP, IL7, ENO2
34cholesterol45 29 11 2411.3APOE, CTSD, PRNP, AHSP, IL7, ENO2
35alanine458.2APOE, CTSD, PRNP, TBP, IL7, ENO2
36testosterone45 60 11 2411.2APOE, CTSD, IL7, RARB, ENO2
37retinoic acid45 249.1CTSD, TBP, IL7, RARB, ENO2
38lipid458.0APOE, PRNP, AHSP, IL7, RARB, ENO2
39estrogen457.7APOE, CTSD, TBP, AHSP, IL7, RARB
40tyrosine457.4HLA-DQB1, STMN2, PRNP, IL7, RARB, ENO2

GO Terms for genes affiliated with Variant Creutzfeldt-Jakob Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Variant Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1anchored to membraneGO:0312259.6SPRN, PRNP, PRND

Biological processes related to Variant Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:0068789.6PRNP, PRND
2cell deathGO:0082199.4TBP, CTSD, APOE

Molecular functions related to Variant Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tubulin bindingGO:0156319.7TPPP3, PRNP

Products for genes affiliated with Variant Creutzfeldt-Jakob Disease

  • Antibodies
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  • Antibodies

Sources for Variant Creutzfeldt-Jakob Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet