VCJD
MCID: VRN002
MIFTS: 61

Variant Creutzfeldt-Jakob Disease (VCJD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Infectious diseases, Mental diseases categories

Summaries for Variant Creutzfeldt-Jakob Disease

About this section


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 based summary: Variant Creutzfeldt-Jakob Disease, also known as bovine spongiform encephalopathy, is related to creutzfeldt-jakob disease and kuru, and has symptoms including autosomal dominant inheritance, supranuclear gaze palsy and depression. An important gene associated with Variant Creutzfeldt-Jakob Disease is HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1). The compounds gliadin and hemocyanin have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and tonsil, and related mouse phenotypes are cellular and hematopoietic system.

OMIM:46 The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and... (123400) more...

Aliases & Classifications for Variant Creutzfeldt-Jakob Disease

About this section

Variant Creutzfeldt-Jakob Disease, Aliases & Descriptions:

Name: Variant Creutzfeldt-Jakob Disease 9 42
Bovine Spongiform Encephalopathy 9 11
New Variant Creutzfeldt-Jakob Disease 61
Creutzfeldt-Jakob Disease, Variant 46
Variant Creutzfeldt-Jacob Disease 42
Encephalopathy, Bovine Spongiform 61
 
Variant Creutzfeldt Jacob Disease 61
Encephalopathy Bovine Spongiform 44
New Variant of Cjd 42
Variant Cjd 42
Nv-Cjd 42
Vcjd 42


Classifications:



External Ids:

Disease Ontology9 DOID:5435
SNOMED-CT56 52869003
MeSH34 D016643

Related Diseases for Variant Creutzfeldt-Jakob Disease

About this section

Diseases in the Creutzfeldt-Jakob Disease 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 55)
idRelated DiseaseScoreTop Affiliating Genes
1creutzfeldt-jakob disease32.0APOE, PRNP, PRND, TPPP3, ENO2
2kuru31.8PRNP
3prion disease31.6PRND, PRNP
4scrapie31.3PRNP, PRND
5dementia30.3TBP, APOE, PRNP, TPPP3
6multiple sclerosis30.1HLA-DQB1, APOE, IL7, TPPP3
7alzheimer's disease30.1CTSD, TBP, PRNP, APOE, PRND
8tonsillitis10.8
9chronic wasting disease10.7
10neuronitis10.6
11genetic prion diseases10.5PRNP
12persistent vegetative state10.4ENO2
13malaria10.4TBP
14spinocerebellar ataxia type 1210.4TBP, PRNP
15brain disease10.4
16dentatorubral-pallidoluysian atrophy10.3PRNP, TBP
17alpers syndrome10.3
18cerebritis10.3
19tauopathy10.3
20chorea10.3
21obesity10.3
22severe combined immunodeficiency10.3
23spasticity10.3
24spinocerebellar ataxia10.3PRNP, TBP
25huntington's disease10.2TPPP3, TBP, PRNP
26hepatitis b10.2TBP, HLA-DQB1
27tubular adenocarcinoma10.2ENO2, CTSD
28subacute sclerosing panencephalitis10.1
29myoclonus10.1
30cerebral amyloid angiopathy10.1PRNP, APOE
31progressive supranuclear palsy10.1PRNP, APOE
32lewy body dementia10.1PRNP, APOE
33vascular dementia10.1PRNP, APOE
34age related macular degeneration10.1APOE, CTSD
35familial creutzfeldt-jakob disease10.1PRNP, PRND, APOE
36alzheimer disease type 210.1APOE, CTSD
37herpes simplex10.1IL7, CTSD, TBP
38amyloid tumor10.0APOE, PRNP
39memory impairment10.0PRNP, APOE
40bullous pemphigoid10.0IL7, HLA-DQB1
41amyloidosis10.0APOE, PRNP, CTSD
42astrocytoma10.0PRND, PRNP, RARB
43hemorrhage, intracerebral10.0ENO2, APOE, PRNP
44ipex syndrome9.9IL7, PRNP, HLA-DQB1, TBP
45parkinson's disease9.9TBP, APOE, TPPP3, PRNP
46tuberculosis9.9CTSD, IL7, HLA-DQB1, TBP
47stomach cancer9.9CTSD, PRNP, RARB
48lung small cell carcinoma9.9CTSD, ENO2, RARB
49atherosclerosis9.8AHSP, APOE, IL7, PRNP
50cerebrovascular disease9.8ENO2, APOE, PRNP, TPPP3

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



Diseases related to variant creutzfeldt-jakob disease

Symptoms for Variant Creutzfeldt-Jakob Disease

About this section

Symptoms by clinical synopsis from OMIM:

123400

Clinical features from OMIM:

123400

HPO human phenotypes related to Variant Creutzfeldt-Jakob Disease:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 supranuclear gaze palsy HP:0000605
3 depression HP:0000716
4 dementia HP:0000726
5 irritability HP:0000737
6 hallucinations HP:0000738
7 anxiety HP:0000739
8 apathy HP:0000741
9 delusions HP:0000746
10 personality changes HP:0000751
11 hemiparesis HP:0001269
12 confusion HP:0001289
13 myoclonus HP:0001336
14 abnormality of metabolism/homeostasis HP:0001939
15 gait ataxia HP:0002066
16 memory impairment HP:0002354
17 aphasia HP:0002381
18 rapidly progressive HP:0003678
19 loss of facial expression HP:0005327
20 extrapyramidal muscular rigidity HP:0007076

Drugs & Therapeutics for Variant Creutzfeldt-Jakob Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Variant Creutzfeldt-Jakob Disease

Search NIH Clinical Center for Variant Creutzfeldt-Jakob Disease

Genetic Tests for Variant Creutzfeldt-Jakob Disease

About this section

Anatomical Context for Variant Creutzfeldt-Jakob Disease

About this section

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

32
Testes, Brain, Tonsil, Spleen, Appendix, Eye, Cortex, Cerebellum, Liver, Thalamus, Pituitary

Animal Models for Variant Creutzfeldt-Jakob Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Variant Creutzfeldt-Jakob Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.2APOE, PRNP, ENO2, CTSD, HLA-DQB1, AHSP
2MP:00053977.9IL7, HLA-DQB1, AHSP, APOE, PRNP, RARB
3MP:00053877.7CTSD, RARB, IL7, PRND, APOE, AHSP
4MP:00053787.6APOE, HLA-DQB1, PRNP, RARB, TBP, CTSD
5MP:00053867.6RARB, SPRN, HLA-DQB1, PRND, PRNP, APOE
6MP:00036317.5APOE, PRND, PRNP, RARB, CTSD, ENO2
7MP:00107687.5APOE, CTSD, TBP, RARB, PRNP, HLA-DQB1

Publications for Variant Creutzfeldt-Jakob Disease

About this section

Articles related to Variant Creutzfeldt-Jakob Disease:

(show top 50)    (show all 365)
idTitleAuthorsYear
1
Investigation of variant Creutzfeldt-Jakob disease implicated organ or tissue transplantation in the United Kingdom. (24770619)
2014
2
Postmortem findings in a case of variant Creutzfeldt-Jakob disease treated with intraventricular pentosan polysulfate. (24554103)
2014
3
Human prion diseases: from kuru to variant creutzfeldt-jakob disease. (23225013)
2012
4
Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK. (21172857)
2011
5
The first report of a patient with probable variant creutzfeldt-jakob disease in Turkey. (22279448)
2011
6
Validation of diagnostic criteria for variant Creutzfeldt-Jakob disease. (20517937)
2010
7
Photo essay. MRI and positron emission tomography findings in Heidenhain variant Creutzfeldt-Jakob disease. (20581692)
2010
8
Variant Creutzfeldt-Jakob disease and exposure to fractionated plasma products. (19538514)
2009
9
Survival and re-operation rates after neurosurgical procedures in Scotland: implications for targeted surveillance of sub-clinical variant Creutzfeldt-Jakob disease. (19299901)
2009
10
"Hot cross bun" sign in variant Creutzfeldt-Jakob disease. (19279286)
2009
11
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
12
PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism. (20035629)
2009
13
Variant Creutzfeldt-Jakob disease: French versus British. (19334065)
2009
14
Review. The neuropathology of kuru and variant Creutzfeldt-Jakob disease. (18849282)
2008
15
Two cases of variant Creutzfeldt-Jakob disease reported in Spain in 2007 and 2008. (18445462)
2008
16
Size frequency distributions of abnormal protein deposits in Alzheimer's disease and variant Creutzfeldt-Jakob disease. (17849360)
2007
17
In vitro amplification and detection of variant Creutzfeldt-Jakob disease PrPSc. (17614097)
2007
18
Blood-transmitted prions and variant Creutzfeldt-Jakob disease. (17317213)
2007
19
Neuropathological changes in striate and extrastriate visual cortex in variant Creutzfeldt-Jakob disease (vCJD). (19668500)
2007
20
A new human genotype prone to variant Creutzfeldt-Jakob disease. (16709965)
2006
21
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance study. (15146014)
2004
22
Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. (14962520)
2004
23
Practical aspects of decontamination of the unconventional transmissible agents that cause sporadic and variant Creutzfeldt-Jakob disease and other similar human diseases. (15448715)
2004
24
Variant Creutzfeldt-Jakob disease. (15449462)
2004
25
Technical aspects of the development and validation of tests for variant Creutzfeldt-Jakob disease in blood transfusion. (15078250)
2004
26
Variant Creutzfeldt-Jakob disease. (12733426)
2003
27
Rapid echoplanar diffusion imaging in a case of variant Creutzfeldt-Jakob disease; where speed is of the essence. (12879327)
2003
28
Chorea as a presenting feature of variant Creutzfeldt-Jakob disease. (12815669)
2003
29
Variant Creutzfeldt-Jakob disease. (14535362)
2003
30
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
31
The biology and epidemiology of variant Creutzfeldt-Jakob disease. (15025265)
2003
32
Diagnosing variant Creutzfeldt-Jakob disease with the pulvinar sign: MR imaging findings in 86 neuropathologically confirmed cases. (13679271)
2003
33
Organ distribution of prion proteins in variant Creutzfeldt-Jakob disease. (12679264)
2003
34
Genetic susceptibility to variant Creutzfeldt-Jakob disease. (12583940)
2003
35
The sympathetic nervous system is involved in variant Creutzfeldt-Jakob disease. (12937415)
2003
36
Age and variant Creutzfeldt-Jakob disease. (14720404)
2003
37
The predictability of the epidemic of variant Creutzfeldt-Jakob disease by back-calculation methods. (12828242)
2003
38
Modelling the epidemic of variant Creutzfeldt-Jakob disease in the UK based on age characteristics: updated, detailed analysis. (12828243)
2003
39
Neuropathology of variant Creutzfeldt-Jakob disease. (11862618)
2002
40
BSE and variant Creutzfeldt-Jakob disease: never say never. (12012095)
2002
41
Variant Creutzfeldt-Jakob disease: an unfolding epidemic of misfolded proteins. (12410862)
2002
42
Tonsillectomy and variant Creutzfeldt-Jakob disease. (11902091)
2002
43
New variant Creutzfeldt-Jakob disease--is our practice safe? (11412169)
2001
44
Afterthoughts about bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease. (11485682)
2001
45
Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for Australia. (11548083)
2001
46
The pulvinar sign on magnetic resonance imaging in variant Creutzfeldt-Jakob disease. (10791525)
2000
47
The relationship between new variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (10394138)
1999
48
New variant Creutzfeldt-Jakob disease is more common in Britain than elsewhere. (9685298)
1998
49
New variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (9494833)
1998
50
Cerebrospinal-fluid test for new-variant Creutzfeldt-Jakob disease. (8843819)
1996

Variations for Variant Creutzfeldt-Jakob Disease

About this section

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

63
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

Clinvar genetic disease variations for Variant Creutzfeldt-Jakob Disease:

7
id Gene Name Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP)NT expansionPathogenicrs367543047
2PRNPNM_000311.3(PRNP): c.385A> G (p.Met129Val)single nucleotide variantPathogenic, risk factorrs1799990GRCh37Chr 20, 4680251: 4680251
3PRNPNM_000311.3(PRNP): c.598G> A (p.Glu200Lys)single nucleotide variantPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
4PRNPNM_000311.3(PRNP): c.385A> G (p.Met129Val)single nucleotide variantPathogenic, risk factorrs1799990GRCh37Chr 20, 4680251: 4680251
5PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)single nucleotide variantPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
6PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)single nucleotide variantPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
7PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)single nucleotide variantPathogenicrs74315409GRCh37Chr 20, 4680561: 4680561
8PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
9PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398
10PRNPNM_000311.3(PRNP): c.631G> C (p.Glu211Gln)single nucleotide variantPathogenicrs398122370GRCh37Chr 20, 4680497: 4680497

Expression for genes affiliated with Variant Creutzfeldt-Jakob Disease

About this section
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

About this section

Compounds for genes affiliated with Variant Creutzfeldt-Jakob Disease

About this section

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

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1gliadin4410.1IL7, HLA-DQB1
2hemocyanin4410.1IL7, PRNP
3cysteamine44 25 1211.8CTSD, APOE
4edss449.8ENO2, APOE
5agarose449.8PRNP, TBP, CTSD
6sodium dodecylsulfate449.7TBP, APOE, PRNP
7histidine449.6HLA-DQB1, PRNP, TBP, CTSD
8ciglitazone44 2910.5APOE, RARB
9glyceraldehyde 3-phosphate449.5CTSD, ENO2, TBP
10valine449.4PRNP, CTSD, PRND, APOE
11agar449.4CTSD, RARB, IL7
12iron44 2510.4TBP, ENO2, AHSP, PRNP
13formaldehyde44 2510.4CTSD, ENO2, PRNP, TBP
14hyaluronic acid44 2510.3CTSD, APOE, ENO2
15guanine44 25 1211.3TBP, APOE, ENO2
16ibmx44 60 2911.3RARB, ENO2, APOE
17leucine449.3PRNP, TBP, ENO2, CTSD
18dmso449.2CTSD, ENO2, RARB, PRNP
19oligonucleotide449.2IL7, RARB, HLA-DQB1, TBP
20alpha tocopherol449.2APOE, TBP, RARB, CTSD
21paraffin449.1CTSD, PRNP, ENO2, APOE
22pge2449.1CTSD, RARB, PRNP, AHSP, IL7
23steroid449.1CTSD, RARB, TBP, IL7
24cisplatin44 50 60 1212.1ENO2, CTSD, TBP, RARB
25thymidine44 2510.1IL7, CTSD, RARB, ENO2
26adenylate449.1CTSD, ENO2, TBP, RARB
27cycloheximide449.0IL7, CTSD, APOE, RARB
28zinc44 2510.0CTSD, PRNP, RARB, TBP
29aspartate448.9CTSD, ENO2, PRNP, APOE, HLA-DQB1
30dexamethasone44 50 29 1211.9RARB, TBP, ENO2, IL7
31glutamine448.9CTSD, TBP, APOE, HLA-DQB1, ENO2
32indomethacin44 29 60 1211.8AHSP, APOE, ENO2
33arginine448.8PRNP, AHSP, RARB, APOE
34progesterone44 29 60 25 1212.8IL7, CTSD, ENO2, TBP, RARB
35retinoic acid44 259.7RARB, CTSD, IL7, TBP, ENO2
36vegf448.7IL7, APOE, CTSD, ENO2
37oxygen44 259.7PRNP, AHSP, CTSD, IL7, ENO2, TBP
38atp44 299.7AHSP, PRNP, IL7, TBP, ENO2, CTSD
39testosterone44 60 25 1211.6IL7, RARB, ENO2, CTSD, APOE
40heparin44 29 25 1211.5AHSP, CTSD, ENO2, IL7, PRNP, APOE
41cholesterol44 29 25 1211.5CTSD, AHSP, PRNP, ENO2, APOE, IL7
42cysteine448.5APOE, IL7, AHSP, TBP, CTSD, RARB
43dopamine44 29 25 1211.5RARB, AHSP, APOE, TPPP3, ENO2
44alanine448.5IL7, TBP, ENO2, CTSD, PRNP, APOE
45lipid448.4PRNP, RARB, ENO2, IL7, AHSP, APOE
46calcium44 50 25 1211.4AHSP, CTSD, IL7, RARB, ENO2, PRNP
47glutamate448.3ENO2, IL7, PRNP, APOE, HLA-DQB1, AHSP
48serine448.1CTSD, TBP, PRNP, APOE, STMN2, IL7
49estrogen448.0IL7, AHSP, ENO2, TBP, APOE, RARB
50tyrosine447.6STMN2, TPPP3, IL7, RARB, PRNP, ENO2

GO Terms for genes affiliated with Variant Creutzfeldt-Jakob Disease

About this section

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

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

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:0082199.2CTSD, TBP, APOE

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

idNameGO IDScoreTop Affiliating Genes
1tubulin bindingGO:0156319.6PRNP, TPPP3

Products for genes affiliated with Variant Creutzfeldt-Jakob Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Variant Creutzfeldt-Jakob Disease

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet