MCID: CRT072
MIFTS: 60

Creutzfeldt-Jakob Disease malady

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

Aliases & Classifications for Creutzfeldt-Jakob Disease

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 35MedlinePlus, 65UMLS, 67UniProtKB/Swiss-Prot, 24GTR, 2CDC, 36MeSH, 59SNOMED-CT, 29ICD9CM, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Creutzfeldt-Jakob Disease:

Name: Creutzfeldt-Jakob Disease 49 10 11 45 46 47 12 51 35 65 67
Variant Creutzfeldt-Jakob Disease 10 45 12 24 2
Cjd 10 45 67
New Variant Creutzfeldt-Jakob Disease 65 47
Encephalopathy, Bovine Spongiform 65 36
Bovine Spongiform Encephalopathy 10 2
Creutzfeldt Jakob Disease 10 45
Creutzfeldt-Jacob Disease 10 45
Vcjd 45 2
Creutzfeldt-Jakob Disease, Variant 49
Subacute Spongiform Encephalopathy 10
 
Variant Creutzfeldt-Jacob Disease 45
Encephalopathy Bovine Spongiform 47
Transmissible Virus Dementia 10
Creutzfeldt Jacob Syndrome 10
Creutzfeldt-Jakob Syndrome 36
Jakob-Creutzfeldt Disease 10
Creutzfeldt Jacob Disease 45
New Variant of Cjd 45
Variant Cjd 45
Nv-Cjd 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
creutzfeldt-jakob disease:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Canada),1-9/1000000 (United States); Age of onset: Adult


External Ids:

OMIM49 123400
Disease Ontology10 DOID:11949, DOID:5435
ICD9CM29 046.1
NCIt42 C26802
Orphanet51 204
ICD10 via Orphanet28 A81.0
MESH via Orphanet37 D007562
UMLS via Orphanet66 C0022336
ICD1027 A81.0

Summaries for Creutzfeldt-Jakob Disease

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NIH Rare Diseases:45 Creutzfeldt-jakob disease (cjd) is a rare fatal brain disorder that usually occurs later in life and runs a rapid course. in the early stages of the disease, patients may have failing memory, behavior changes, impaired coordination, and vision problems. as cjd progresses, mental deterioration becomes severe, and they can have uncontrolled movements, blindness, weakness, and go into a coma. this condition often leads to death within a few weeks or months after symptoms begin. about 90 percent of patients do not survive for more than one year. in the united states, about 300 people are diagnosed with this condition each year. it occurs in approximately one in every one million people worldwide. cjd can be very difficult to diagnose because it is similar to other forms of dementia. the only way to confirm the diagnosis is to test a small sample of brain tissue, which can be done by brain biopsy or autopsy. cjd is caused by the build up of abnormal prion proteins in the brain. for most patients, the reason for the abnormal prions is unknown (sporadic cjd). about 5 to 10 percent of cases are due to an inherited genetic mutation associated with cjd (familial cjd). this condition can also be acquired through contact with infected brain tissue (iatrogenic cjd) or consuming infected beef (variant cjd). there is no specific treatment for cjd, so the goal is to make a person as comfortable as possible. last updated: 7/8/2015

MalaCards based summary: Creutzfeldt-Jakob Disease, also known as variant creutzfeldt-jakob disease, is related to alzheimer disease and gerstmann-straussler disease, and has symptoms including autosomal dominant inheritance, visual impairment and supranuclear gaze palsy. An important gene associated with Creutzfeldt-Jakob Disease is PRNP (Prion Protein), and among its related pathways are Integrated Pancreatic Cancer Pathway and Neuroscience. Affiliated tissues include brain, testes and cerebellum, and related mouse phenotypes are muscle and behavior/neurological.

OMIM:49 The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and... (123400) more...

MedlinePlus:35 Creutzfeldt-jakob disease (cjd) is a rare, degenerative brain disorder. symptoms usually start around age 60. memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to dementia, coma, and death. most patients die within a year. the three main categories of cjd are sporadic cjd, which occurs for no known reason hereditary cjd, which runs in families acquired cjd, which occurs from contact with infected tissue, usually during a medical procedure cattle can get a disease related to cjd called bovine spongiform encephalopathy (bse) or "mad cow disease." there is concern that people can get a variant of cjd from eating beef from an infected animal, but there is no direct proof to support this. nih: national institute of neurological disorders and stroke

CDC:2 BSE (bovine spongiform encephalopathy) is a progressive neurological disorder of cattle that results from infection by an unusual transmissible agent called a prion. The nature of the transmissible agent is not well understood. Currently, the most accepted theory is that the agent is a modified form of a normal protein known as prion protein. For reasons that are not yet understood, the normal prion protein changes into a pathogenic (harmful) form that then damages the central nervous system of cattle.

NINDS:46 Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, invariably fatal brain disorder. Typically, onset of symptoms occurs at about age 60. There are three major categories of CJD:

UniProtKB/Swiss-Prot:67 Creutzfeldt-Jakob disease: Occurs primarily as a sporadic disorder (1 per million), while 10-15% are familial. Accidental transmission of CJD to humans appears to be iatrogenic (contaminated human growth hormone (HGH), corneal transplantation, electroencephalographic electrode implantation, etc.). Epidemiologic studies have failed to implicate the ingestion of infected animal meat in the pathogenesis of CJD in human. The triad of microscopic features that characterize the prion diseases consists of (1) spongiform degeneration of neurons, (2) severe astrocytic gliosis that often appears to be out of proportion to the degree of nerve cell loss, and (3) amyloid plaque formation. CJD is characterized by progressive dementia and myoclonic seizures, affecting adults in mid- life. Some patients present sleep disorders, abnormalities of high cortical function, cerebellar and corticospinal disturbances. The disease ends in death after a 3-12 months illness.

Related Diseases for Creutzfeldt-Jakob Disease

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Diseases in the Creutzfeldt-Jakob Disease family:

Familial Creutzfeldt-Jakob Disease Inherited Creutzfeldt-Jakob Disease

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

(show top 50)    (show all 159)
idRelated DiseaseScoreTop Affiliating Genes
1alzheimer disease29.9APOE, CST3, EIF2AK2, MAPT, PRNP, S100B
2gerstmann-straussler disease27.2APOE, AQP1, CRYAB, CST3, EIF2AK2, ENO2
3familial creutzfeldt-jakob disease11.2
4encephalopathy11.2
5neuronitis10.9
6prion disease10.9
7kuru10.9
8scrapie10.8
9cerebritis10.8
10tonsillitis10.7
11dementia10.7
12encephalitis10.7
13inherited creutzfeldt-jakob disease10.7
14spasticity10.6
15corticobasal degeneration10.6
16spastic paraparesis10.6
17cerebellar ataxia10.5
18aphasia10.5
19ataxia10.5
20myoclonus10.5
21cerebral amyloid angiopathy10.4
22wernicke encephalopathy10.4
23status epilepticus10.4
24tropical spastic paraparesis10.4
25agraphia10.4
26mutism10.4
27akinetic mutism10.4
28demyelinating polyneuropathy10.4
29dystonia10.4
30polyneuropathy10.4
31neurologic diseases10.4
32autoimmune encephalitis10.4
33limbic encephalitis10.4
34lupus - neurological sequelae10.4ENO2, S100B
35beemer ertbruggen syndrome10.3ENO2, S100B
362p21 microdeletion syndrome10.3ENO2, S100B
37barber-say syndrome10.3
38obesity10.3
39severe combined immunodeficiency10.3
40pinched nerve10.3APOE, ENO2
41tumoral calcinosis10.3APOE, MAPT
42endometrial stromal sarcoma10.3ENO2, SYP
43flat retinoschisis10.3ENO2, SYP
44acrodysostosis10.3ENO2, SYP
45sinus cancer10.3ENO2, SYP
46arteriovenous fistula10.3
47lateral sclerosis10.3
48amyloidosis10.3
49gangliocytoma10.3ENO2, SYP
50extrahepatic bile duct adenoma10.3ENO2, SYP

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



Diseases related to creutzfeldt-jakob disease

Symptoms for Creutzfeldt-Jakob Disease

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Symptoms by clinical synopsis from OMIM:

123400

Clinical features from OMIM:

123400

HPO human phenotypes related to Creutzfeldt-Jakob Disease:

(show all 21)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 visual impairment HP:0000505
3 supranuclear gaze palsy HP:0000605
4 depression HP:0000716
5 dementia HP:0000726
6 irritability HP:0000737
7 hallucinations HP:0000738
8 anxiety HP:0000739
9 apathy HP:0000741
10 delusions HP:0000746
11 personality changes HP:0000751
12 hemiparesis HP:0001269
13 confusion HP:0001289
14 myoclonus HP:0001336
15 gait ataxia HP:0002066
16 memory impairment HP:0002354
17 aphasia HP:0002381
18 increased csf protein HP:0002922
19 rapidly progressive HP:0003678
20 loss of facial expression HP:0005327
21 extrapyramidal muscular rigidity HP:0007076

Drugs & Therapeutics for Creutzfeldt-Jakob Disease

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Drugs for Creutzfeldt-Jakob Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
QuinacrineapprovedPhase 2683-89-6237
Synonyms:
130-42-7
130-42-7 (mono-hydrochloride)
2-Methoxy-6-chloro-9-diethylaminopentylaminoacridine
3-Chloro-7-methoxy-9-(1-methyl-4-diethylaminobutylamino)acridine
3-chloro-7-Methoxy-9-(1-methyl-4-diethylaminobutylamino)acridine
316-05-2 (dimesylate)
4-N-(6-chloro-2-methoxyacridin-9-yl)-1-N,1-N-diethylpentane-1,4-diamine
6-Chloro-9-((4-(diethylamino)-1-methylbutyl)amino)-2-methoxyacridine
6-chloro-9-((4-(Diethylamino)-1-methylbutyl)amino)-2-methoxyacridine
6151-30-0
6151-30-0 (di-hydrochloride, di-hydrate)
69-05-6
69-05-6 (di-hydrochloride)
78901-94-7
78901-94-7 (monoacetate)
83-89-6
83-89-6 (Parent)
866 R.P.
AB00053540
AC1L18SD
AC1L3ZIX
AC1MBFYF
AC1NS008
AC1Q2BPT
AI3-04467
AKOS000541535
AKOS004910405
Acirchine
Acrinamine
Acriquine
Akrichin
Antimalarina
Arichin
Atabrine dihydrochloride
Atabrine hydrochloride
Atabrine hydrochloride dihydrate
Atebrine
BAS 00439963
BPBio1_000348
BRD-A45889380-336-03-4
BSPBio_000316
BSPBio_002112
C07339
C23H30ClN3O.2HCl.2H2O
CCRIS 8633
CHEBI:8711
CHEMBL546257
CHEMBL7568
CID149640
CID237
CID2725002
CID5351141
CPD000449289
D08179
DB01103
DivK1c_000101
EINECS 201-508-7
EINECS 204-989-1
Erion
Erion Hydrochloride
GNF-PF-5448
HMS1568P18
HMS2090L03
HSDB 3253
Haffkinine
IDI1_000101
Italchin
Italchine
KBio1_000101
KBio2_001409
KBio2_002507
KBio2_003977
KBio2_005075
KBio2_006545
KBio2_007643
KBio3_001612
KBio3_002985
KBioGR_001011
KBioGR_002507
 
KBioSS_001409
KBioSS_002515
LS-14293
LS-14294
LS-190025
Lopac0_000970
MLS000758289
MS-1557
Malaricida
Mecryl
Mepacrina
Mepacrina [INN-Spanish]
Mepacrine
Mepacrine (INN)
Mepacrine HCl
Mepacrine [INN:BAN]
Mepacrine hydrochloride dihydrate
Mepacrinum
Mepacrinum [INN-Latin]
Methoquine
Metochin
MolPort-001-739-072
MolPort-004-285-521
N'-(6-chloro-2-methoxyacridin-9-yl)-N,N-diethylpentane-1,4-diamine
N(4)-(6-chloro-2-Methoxy-9-acridinyl)-N(1),N(1)-diethyl-1,4-pentanediamine
N(4)-(6-chloro-2-methoxy-9-acridinyl)-N(1),N(1)-diethyl-1,4-pentanediamine
N*4*-(6-Chloro-2-methoxy-acridin-9-yl)-N*1*,N*1*-diethyl-pentane-1,4-diamine
N4-(6-Chloro-2-methoxy-9-acridinyl)-N1,N1-diethyl-1,4-pentanediamine
N4-(6-Chloro-2-methoxy-9-acridinyl)-N1,N1-diethyl-1,4-pentanediamine monoacetate
NCGC00015874-04
NCGC00162300-01
NCGC00180899-01
NCGC00180969-01
NCI60_000926
NINDS_000101
NSC14229
N~4~-(6-chloro-2-methoxyacridin-9-yl)-N~1~,N~1~-diethylpentane-1,4-diamine
N~4~-[6-chloro-2-(methyloxy)acridin-9-yl]-N~1~,N~1~-diethylpentane-1,4-diamine
Palacrin
Palusan
Pentilen
Prestwick0_000318
Prestwick1_000318
Prestwick2_000318
Prestwick3_000318
Prestwick_650
Quinacrin
Quinacrine
Quinacrine Dihydrochloride
Quinacrine Dihydrochloride, Dihydrate
Quinacrine acetate
Quinacrine dihydrochloride dihydrate
Quinacrine dihydrochloride mustard
Quinacrine hydrochloride dihydrate
Quinactine
RP 866
RP-866 (Dihydrochloride dihydrate)
SAM001247040
SMR000449289
SN-390 (Dihydrochloride dihydrate)
SPBio_000676
SPBio_002535
STL061087
Spectrum2_000888
Spectrum3_000606
Spectrum4_000496
Spectrum5_001405
Spectrum_000929
St 439
TCMDC-125480
WLN: T C666 BNJ EG IMY1&3N2&2 LO1 &GH 2
acetic acid
acrichine
atabrine
atebrin
cMAP_000067
chinacrin
mepacrine
nchembio.215-comp6
nchembio873-comp30
quinacrine
2Coal TarPhase 2155
3AnthelminticsPhase 2363
4Thrombin257

Interventional clinical trials:

idNameStatusNCT IDPhase
1Fibrinogen as an Alternative to FFP in Aortic Surgery.RecruitingNCT00994045Phase 4
2CJD (Creutzfeldt-Jakob Disease) Quinacrine StudyCompletedNCT00183092Phase 2
3A Trial to Investigate the Relative Efficacy, Safety, and Tolerability of Octaplas LG Versus Octaplas SDCompletedNCT01063595Phase 1
4The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH)CompletedNCT00721864
5PRION-1: Quinacrine for Human Prion DiseaseCompletedNCT00104663
6Enhanced CJD Surveillance in the Older PopulationRecruitingNCT02629640
7Notification of Donors With Positive Microbiology MarkersNot yet recruitingNCT01050881
8The Role of the Coagulation Pathway at the Synapse in Prion DiseasesNot yet recruitingNCT02480725

Search NIH Clinical Center for Creutzfeldt-Jakob Disease


Cochrane evidence based reviews: Encephalopathy, Bovine Spongiform

Genetic Tests for Creutzfeldt-Jakob Disease

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Genetic tests related to Creutzfeldt-Jakob Disease:

id Genetic test Affiliating Genes
1 Jakob-Creutzfeldt Disease24

Anatomical Context for Creutzfeldt-Jakob Disease

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MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

33
Brain, Testes, Cerebellum, Tonsil, Cortex, Spleen, Appendix

Animal Models for Creutzfeldt-Jakob Disease or affiliated genes

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MGI Mouse Phenotypes related to Creutzfeldt-Jakob Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.9APOE, CRYAB, CST3, HLA-DQB1, MAPT, PRNP
2MP:00053867.3APOE, AQP1, CRYAB, ENO2, HLA-DQB1, MAPT
3MP:00036317.3APOE, AQP1, CRYAB, CST3, ENO2, HLA-DQB1

Publications for Creutzfeldt-Jakob Disease

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Articles related to Creutzfeldt-Jakob Disease:

(show top 50)    (show all 862)
idTitleAuthorsYear
1
Efficient propagation of variant Creutzfeldt-Jakob disease prion protein using the cell-protein misfolding cyclic amplification technique with samples containing plasma and heparin. (26347231)
2015
2
Alternative application of Tau protein in Creutzfeldt-Jakob disease diagnosis: Improvement for weakly positive 14-3-3 protein in the laboratory. (26507666)
2015
3
Early-onset spastic paraparesis as presenting sign of familial Creutzfeldt-Jakob disease. (26578040)
2015
4
Visual symptoms in the presentation of Creutzfeldt-Jakob disease. (26355534)
2015
5
Analyses of the similarity and difference of global gene expression profiles in cortex regions of three neurodegenerative diseases: sporadic Creutzfeldt-Jakob disease (sCJD), fatal familial insomnia (FFI), and Alzheimer's disease (AD). (24902808)
2014
6
Hyperacusis as the initial presentation of Creutzfeldt-Jakob disease. (25340084)
2014
7
Investigation of variant Creutzfeldt-Jakob disease implicated organ or tissue transplantation in the United Kingdom. (24770619)
2014
8
Autoimmune encephalitis mimicking Creutzfeldt-Jakob disease. (25566419)
2014
9
Creutzfeldt-Jakob disease mimicking autoimmune encephalitis with CASPR2 antibodies. (25434587)
2014
10
Lack of prion infectivity in fixed heart tissue from patients with Creutzfeldt-Jakob disease or amyloid heart disease. (23785217)
2013
11
Sporadic Creutzfeldt-Jakob disease in a patient with episodes of nonconvulsive status epilepticus: case report. (22920008)
2012
12
Human prion diseases: from kuru to variant creutzfeldt-jakob disease. (23225013)
2012
13
An autopsied case of panencephalopathic-type Creutzfeldt-Jakob disease with mutation in the prion protein gene at codon 232 and type 1 prion protein. (19422533)
2009
14
Variant Creutzfeldt-Jakob disease and exposure to fractionated plasma products. (19538514)
2009
15
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. (19051123)
2009
16
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. (18638039)
2009
17
Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease. (17134829)
2007
18
A novel phenotype of sporadic Creutzfeldt-Jakob disease. (18024694)
2007
19
Size frequency distributions of abnormal protein deposits in Alzheimer's disease and variant Creutzfeldt-Jakob disease. (17849360)
2007
20
A new human genotype prone to variant Creutzfeldt-Jakob disease. (16709965)
2006
21
Bovine spongiform encephalopathy, multiple sclerosis, and creutzfeldt-jakob disease are probably autoimmune diseases evoked by Acinetobacter bacteria. (16014559)
2005
22
Involvement of the peripheral nervous system in human prion diseases including dural graft associated Creutzfeldt-Jakob disease. (15716520)
2005
23
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance study. (15146014)
2004
24
Possible transmission of variant Creutzfeldt-Jakob disease by blood transfusion. (14962520)
2004
25
Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease. (15521976)
2004
26
Practical aspects of decontamination of the unconventional transmissible agents that cause sporadic and variant Creutzfeldt-Jakob disease and other similar human diseases. (15448715)
2004
27
Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy. (15142229)
2004
28
Variant Creutzfeldt-Jakob disease. (12733426)
2003
29
Rapid echoplanar diffusion imaging in a case of variant Creutzfeldt-Jakob disease; where speed is of the essence. (12879327)
2003
30
A potential cerebrospinal fluid and plasmatic marker for the diagnosis of Creutzfeldt-Jakob disease. (12923775)
2003
31
Chorea as a presenting feature of variant Creutzfeldt-Jakob disease. (12815669)
2003
32
Variant Creutzfeldt-Jakob disease. (14535362)
2003
33
Neuropathology of variant Creutzfeldt-Jakob disease. (11862618)
2002
34
BSE and variant Creutzfeldt-Jakob disease: never say never. (12012095)
2002
35
New variant Creutzfeldt-Jakob disease--is our practice safe? (11412169)
2001
36
Quantification of the vacuolation (spongiform change) and prion protein deposition in 11 patients with sporadic Creutzfeldt-Jakob disease. (11761719)
2001
37
The relationship between new variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (10394138)
1999
38
Prion protein glycotype analysis in familial and sporadic Creutzfeldt-Jakob disease patients. (10483920)
1999
39
New variant Creutzfeldt-Jakob disease is more common in Britain than elsewhere. (9685298)
1998
40
Cerebrospinal fluid neuron-specific enolase as a useful indicator for the early diagnosis of Creutzfeldt-Jakob disease]. (9396368)
1997
41
Apolipoprotein E phenotype frequency and cerebrospinal fluid concentration are not associated with Creutzfeldt-Jakob disease. (8970451)
1996
42
Demyelinating peripheral neuropathy with Creutzfeldt-Jakob disease and mutation at codon 200 of the prion protein gene. (8780103)
1996
43
Iatrogenic Creutzfeldt-Jakob disease in three growth hormone recipients: a neuropathological study. (8072642)
1994
44
Transmission of Creutzfeldt-Jakob disease from humans to transgenic mice expressing chimeric human-mouse prion protein. (7937921)
1994
45
Molecular genetic studies of Creutzfeldt-Jakob disease. (7999318)
1994
46
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. (1469441)
1992
47
Analysis of the PrP gene in a Tunisian family with Creutzfeldt-Jakob disease]. (1780610)
1991
48
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. (2159587)
1990
49
Ubiquitin immunoreactivity in kuru plaques in Creutzfeldt-Jakob disease. (2171419)
1990
50
Creutzfeldt-Jakob disease: a case with extensive white matter degeneration and optic atrophy. (6191005)
1983

Variations for Creutzfeldt-Jakob Disease

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

67
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 Creutzfeldt-Jakob Disease:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP)NT expansionPathogenicrs193922906GRCh37Chr 20, 4680026: 4680049
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 Creutzfeldt-Jakob Disease

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

Pathways for genes affiliated with Creutzfeldt-Jakob Disease

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Pathways related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2CST3, EIF2AK2, MAPT, RARB
29.0APOE, ENO2, MAPT, PRNP, S100B, SYP

GO Terms for genes affiliated with Creutzfeldt-Jakob Disease

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Cellular components related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1contractile fiberGO:004329210.5CRYAB, CST3
2anchored component of membraneGO:003122510.2PRND, PRNP, SPRN
3neuronal cell bodyGO:00430258.9APOE, CST3, ENO2, RPSA, S100B, STMN2
4membraneGO:00160206.7APOE, AQP1, EIF2AK2, HLA-DQB1, PRND, PRNP
5extracellular exosomeGO:00700626.7APOE, AQP1, CRYAB, CST3, ENO2, PRNP
6cytoplasmGO:00057375.0APOE, AQP1, CRYAB, CST3, EIF2AK2, ENO2

Biological processes related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:000687810.5PRND, PRNP
2cellular response to copper ionGO:007128010.4AQP1, PRNP
3virion assemblyGO:001906810.2APOE, RPS27A
4negative regulation of intracellular transportGO:003238710.1CRYAB, MAPT
5regulation of cell deathGO:001094110.1CRYAB, YWHAZ
6regulation of neuronal synaptic plasticityGO:00481689.7APOE, S100B, SYP
7cellular response to hypoxiaGO:00714569.4AQP1, RPS27A, S100B
8negative regulation of apoptotic processGO:00430668.0AQP1, CRYAB, EIF2AK2, PRNP, RPS27A, YWHAZ

Molecular functions related to Creutzfeldt-Jakob Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tau protein bindingGO:004815610.4APOE, S100B
2lipoprotein particle bindingGO:007181310.4APOE, MAPT
3tubulin bindingGO:00156319.0MAPT, PRNP, STMN2, TPPP3
4identical protein bindingGO:00428028.5APOE, CRYAB, CST3, PRNP, S100B, SYP

Sources for Creutzfeldt-Jakob Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet