VCJD
MCID: VRN002
MIFTS: 38

Variant Creutzfeldt-Jakob Disease (VCJD) malady

Summaries for Variant Creutzfeldt-Jakob Disease

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 prion disease and bovine spongiform encephalopathy. 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. Related mouse phenotypes are mortality/aging and immune system.

Description from OMIM:46 123400

Aliases & Classifications for Variant Creutzfeldt-Jakob Disease

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42NIH Rare Diseases, 46OMIM, 60UMLS
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Aliases & Descriptions:

variant creutzfeldt-jakob disease 42
new variant creutzfeldt-jakob disease 60
creutzfeldt-jakob disease, variant 46
variant creutzfeldt-jacob disease 42
new variant of cjd 42
variant cjd 42
nv-cjd 42
vcjd 42


Related Diseases for Variant Creutzfeldt-Jakob Disease

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Sources:
17GeneCards, 18GeneDecks
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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
1prion disease31.6PRND, PRNP
2bovine spongiform encephalopathy31.5PRNP
3scrapie30.6PRND, PRNP
4genetic prion diseases30.4PRNP
5creutzfeldt-jakob syndrome30.4PRND, TPPP3, APOE, ENO2, PRNP
6alzheimer's disease30.4CTSD, APOE, TBP, PRND, PRNP
7brain disease10.7
8tonsillitis10.7
9neuronitis10.5
10blood protein disease10.4
11eye disease10.4
12neurologic diseases10.4
13alpers syndrome10.3
14cerebritis10.3
15disease of mental health10.3
16intestinal disease10.3
17leukocyte disease10.3
18liver disease10.3
19nervous system disease10.3
20tauopathy10.3
21visual cortex disease10.3
22subacute sclerosing panencephalitis10.1
23amyotrophic lateral sclerosis10.0PRNP
24multiple system atrophy10.0PRNP
25encephalitis10.0TPPP3
26spinocerebellar ataxia type 310.0TBP
27malaria10.0TBP
28persistent vegetative state10.0ENO2
29myositis10.0PRNP
30down syndrome10.0APOE
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

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46OMIM
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Clinical features from OMIM:

123400

Clinical synopsis from OMIM:

123400

Drugs & Therapeutics for Variant Creutzfeldt-Jakob Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Anatomical Context for Variant Creutzfeldt-Jakob Disease

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Animal Models for Variant Creutzfeldt-Jakob Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Variant Creutzfeldt-Jakob Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.7CTSD, HLA-DQB1, PRNP, TBP, AHSP, RARB
2MP:00053877.6APOE, CTSD, HLA-DQB1, PRND, PRNP, AHSP
3MP:00053977.6APOE, CTSD, HLA-DQB1, PRNP, AHSP, IL7
4MP:00053867.3SPRN, APOE, CTSD, HLA-DQB1, PRND, PRNP
5MP:00036317.1APOE, CTSD, HLA-DQB1, PRND, PRNP, RARB

Publications for Variant Creutzfeldt-Jakob Disease

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Genetic Variations for Variant Creutzfeldt-Jakob Disease

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Variant Creutzfeldt-Jakob Disease:

62
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Variant Creutzfeldt-Jakob Disease

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Variant Creutzfeldt-Jakob Disease according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1glutamate4410.3AHSP, PRNP
2Insulin, porcine1110.2CTSD, HLA-DQB1
3hemocyanin4410.0IL7, PRNP
4cysteamine44 11 2411.9CTSD, APOE
5gliadin449.8IL7, HLA-DQB1
6sodium dodecylsulfate449.8APOE, PRNP, TBP
7agarose449.7TBP, PRNP, CTSD
8histidine449.6CTSD, HLA-DQB1, PRNP, TBP
9edss449.6ENO2, APOE
10valine449.5PRNP, PRND, CTSD, APOE
11alpha tocopherol449.3APOE, CTSD, TBP, RARB
12formaldehyde44 2410.1ENO2, TBP, PRNP, CTSD
13iron44 2410.1ENO2, AHSP, TBP, PRNP
14ibmx44 28 5911.0APOE, RARB, ENO2
15hyaluronic acid44 2410.0ENO2, CTSD, APOE
16pge2449.0CTSD, PRNP, AHSP, IL7, RARB
17guanine44 11 2410.9ENO2, TBP, APOE
18paraffin448.9ENO2, PRNP, CTSD, APOE
19dmso448.9CTSD, PRNP, RARB, ENO2
20aspartate448.7APOE, CTSD, HLA-DQB1, PRNP, ENO2
21glutamine448.7APOE, CTSD, HLA-DQB1, TBP, ENO2
22leucine448.7CTSD, PRNP, TBP, ENO2
23glyceraldehyde 3-phosphate448.7CTSD, TBP, ENO2
24cisplatin44 49 59 1111.7CTSD, TBP, RARB, ENO2
25thymidine44 249.5CTSD, IL7, RARB, ENO2
26cysteine448.5APOE, CTSD, TBP, AHSP, IL7, RARB
27progesterone44 59 28 11 2412.3CTSD, TBP, IL7, RARB, ENO2
28adenylate448.3ENO2, RARB, TBP, CTSD
29oxygen44 249.3CTSD, PRNP, TBP, AHSP, IL7, ENO2
30atp44 289.3CTSD, PRNP, TBP, AHSP, IL7, ENO2
31dopamine44 28 11 2411.3APOE, AHSP, RARB, ENO2, TPPP3
32serine448.3APOE, CTSD, STMN2, PRNP, TBP, IL7
33heparin44 28 11 2411.3APOE, CTSD, PRNP, AHSP, IL7, ENO2
34cholesterol44 28 11 2411.3APOE, CTSD, PRNP, AHSP, IL7, ENO2
35alanine448.2APOE, CTSD, PRNP, TBP, IL7, ENO2
36testosterone44 59 11 2411.2APOE, CTSD, IL7, RARB, ENO2
37retinoic acid44 249.1CTSD, TBP, IL7, RARB, ENO2
38lipid448.0APOE, PRNP, AHSP, IL7, RARB, ENO2
39estrogen447.7APOE, CTSD, TBP, AHSP, IL7, RARB
40tyrosine447.4HLA-DQB1, STMN2, PRNP, IL7, RARB, ENO2

GO Terms for genes affiliated with Variant Creutzfeldt-Jakob Disease

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Sources:
16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Variant Creutzfeldt-Jakob Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet