MCID: CRT072
MIFTS: 62

Creutzfeldt-Jakob Disease malady

Categories: Genetic diseases, Rare diseases, Infectious diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Creutzfeldt-Jakob Disease

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 36MedlinePlus, 2CDC, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Creutzfeldt-Jakob Disease:

Name: Creutzfeldt-Jakob Disease 50 11 46 47 13 68 12 48 36 66
Variant Creutzfeldt-Jakob Disease 11 46 13 25 2
Cjd 11 46 68
Encephalopathy, Bovine Spongiform 37 66
Bovine Spongiform Encephalopathy 11 2
Creutzfeldt-Jacob Disease 11 46
Creutzfeldt Jakob Disease 11 46
Vcjd 46 2
New Variant Creutzfeldt-Jakob Disease 66
Inherited Creutzfeldt-Jakob Disease 52
Creutzfeldt-Jakob Disease, Sporadic 66
Subacute Spongiform Encephalopathy 11
Sporadic Creutzfeldt-Jakob Disease 52
Creutzfeldt-Jakob Disease, Variant 50
 
Acquired Creutzfeldt-Jakob Disease 52
Variant Creutzfeldt-Jacob Disease 46
Encephalopathy Bovine Spongiform 48
Transmissible Virus Dementia 11
Creutzfeldt Jacob Syndrome 11
Creutzfeldt-Jakob Syndrome 37
Jakob-Creutzfeldt Disease 11
Creutzfeldt Jacob Disease 46
New Variant of Cjd 46
Inherited Cjd 52
Acquired Cjd 66
Sporadic Cjd 52
Variant Cjd 46
Nv-Cjd 46

Characteristics:

Orphanet epidemiological data:

52
sporadic creutzfeldt-jakob disease:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Canada),1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: adult,elderly
inherited creutzfeldt-jakob disease:
Inheritance: Autosomal dominant; Age of onset: Adult,Elderly; Age of death: adult,elderly
acquired creutzfeldt-jakob disease:
Inheritance: Not applicable; Age of onset: Adult,Elderly; Age of death: adult,elderly

HPO:

62
creutzfeldt-jakob disease:
Inheritance: autosomal dominant inheritance
Onset and clinical course: rapidly progressive


Classifications:



External Ids:

OMIM50 123400
Disease Ontology11 DOID:11949, DOID:5435
ICD1028 A81.0, A81.00
ICD9CM30 046.1
NCIt43 C26802
ICD10 via Orphanet29 A81.0
MESH via Orphanet38 D007562
UMLS via Orphanet67 C0022336

Summaries for Creutzfeldt-Jakob Disease

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NIH Rare Diseases:46 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 familial creutzfeldt-jakob disease and prion disease, and has symptoms including back pain, back pain and headache. 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 taste/olfaction and muscle.

OMIM:50 The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and... (123400) more...

MedlinePlus:36 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:47 Creutzfeldt-Jakob disease (CJD) is a rare, degenerative,fatal brain disorder. Typically, onset of symptoms occurs at about age 60. There are three major categories of CJD:

UniProtKB/Swiss-Prot:68 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

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

(show top 50)    (show all 107)
idRelated DiseaseScoreTop Affiliating Genes
1familial creutzfeldt-jakob disease12.6
2prion disease11.2
3encephalopathy10.9
4familial mediterranean fever type 210.8PRND, PRNP
5postinfectious vasculitis10.8APOE, MAPT
6lyme disease - neurological complications10.8ENO2, S100B
7exstrophy-epispadias complex10.8ENO2, S100B
8choroid plexus cancer10.7PRNP, SPRN
9testicular seminoma10.7APOE, MAPT
10neuronitis10.7
11nosophobia10.7APOE, MAPT, PRNP
12polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract10.6APOE, CST3, PRNP
13penis verrucous carcinoma10.6ENO2, S100B
14kuru10.6
15cerebritis10.6
16scrapie10.6
17angiomyolipoma10.5APOE, MAPT, PRNP
18microsporidiosis10.5APOE, ENO2, MAPT, PRNP
19subpulmonary stenosis10.5AQP1, ENO2
20respiratory syncytial virus infectious disease10.5APOE, RPSA
21tonsillitis10.5
22hemiplegia alterans10.5APOE, S100B
23chronic intestinal vascular insufficiency10.5APOE, MAPT, PRNP
24dementia10.5
25encephalitis10.5
26anti-p200 pemphigoid10.5APOE, MAPT
27gerstmann-straussler disease10.4
28corticobasal degeneration10.4
29spasticity10.4
30alagille syndrome10.4MSMB, PRND, PRNP
31avoidant personality disorder10.4APOE, MAPT, PVALB
32aphasia10.3
33spastic paraparesis10.3
34gemistocytic astrocytoma10.3APOE, MAPT, PRNP
35insomnia, fatal familial10.3
36cerebellar ataxia10.3
37autoimmune encephalitis10.3
38ataxia10.3
39myoclonus10.3
40cerebral amyloid angiopathy10.2
41agraphia10.2
42polyneuropathy10.2
43status epilepticus10.2
44wernicke encephalopathy10.2
45tropical spastic paraparesis10.2
46mutism10.2
47akinetic mutism10.2
48demyelinating polyneuropathy10.2
49dystonia10.2
50limbic encephalitis10.2

Comorbidity relations with Creutzfeldt-Jakob Disease via Phenotypic Disease Network (PDN):


Acute Cystitis

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 19)
id Description Frequency HPO Source Accession
1 visual impairment HP:0000505
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 gait ataxia HP:0002066
15 memory impairment HP:0002354
16 aphasia HP:0002381
17 increased csf protein HP:0002922
18 loss of facial expression HP:0005327
19 extrapyramidal muscular rigidity HP:0007076

UMLS symptoms related to Creutzfeldt-Jakob Disease:


back pain, headache, hemiparesis, myoclonus, pain, sciatica, seizures, syncope, tremor, apathy, chronic pain, personality change, vertigo/dizziness, memory loss, gait ataxia, sleeplessness

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
QuinacrinePhase 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
2THROMBIN284

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
7Therapeutic Antibodies Against Prion Diseases From PRNP Mutation CarriersRecruitingNCT02837705
8Notification of Donors With Positive Microbiology MarkersNot yet recruitingNCT01050881
9The 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 Disease25

Anatomical Context for Creutzfeldt-Jakob Disease

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MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.1APOE, ENO2, MAPT, SNAP25
2MP:00053698.9APOE, CST3, HLA-DQB1, MAPT, PRNP, PVALB
3MP:00053898.6APOE, AQP1, CST3, HLA-DQB1, MSMB, PLCB1
4MP:00053798.1APOE, AQP1, HLA-DQA1, HLA-DQB1, MSMB, PLCB1
5MP:00053787.7APOE, AQP1, ENO2, HLA-DQB1, MAPT, PLCB1
6MP:00036317.5APOE, AQP1, CST3, ENO2, HLA-DQB1, MAPT
7MP:00053867.4APOE, AQP1, ENO2, HLA-DQB1, MAPT, PLCB1
8MP:00107687.3APOE, AQP1, CST3, EIF2AK2, HLA-DQB1, MAPT

Publications for Creutzfeldt-Jakob Disease

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Articles related to Creutzfeldt-Jakob Disease:

(show top 50)    (show all 918)
idTitleAuthorsYear
1
Prion-Seeding Activity Is widely Distributed in Tissues of Sporadic Creutzfeldt-Jakob Disease Patients. (27612591)
2016
2
Proteome Analysis of Potential Synaptic Vesicle Cycle Biomarkers in the Cerebrospinal Fluid of Patients with Sporadic Creutzfeldt-Jakob Disease. (27562179)
2016
3
Genetic Creutzfeldt-Jakob disease mimicking chronic inflammatory demyelinating polyneuropathy. (26568971)
2015
4
Autoimmune encephalitis mimicking Creutzfeldt-Jakob disease. (25566419)
2014
5
Creutzfeldt-Jakob disease mimicking autoimmune encephalitis with CASPR2 antibodies. (25434587)
2014
6
Agraphia of Kanji (Chinese characters): an early symptom of sporadic Creutzfeldt-Jakob disease in a Japanese patient: a case report. (25098795)
2014
7
Postmortem findings in a case of variant Creutzfeldt-Jakob disease treated with intraventricular pentosan polysulfate. (24554103)
2014
8
Human prion diseases: from kuru to variant creutzfeldt-jakob disease. (23225013)
2012
9
The first report of RPSA polymorphisms, also called 37/67 kDa LRP/LR gene, in sporadic Creutzfeldt-Jakob disease (CJD). (21838916)
2011
10
Diagnosing variant Creutzfeldt-Jakob disease: a retrospective analysis of the first 150 cases in the UK. (21172857)
2011
11
The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review. (19051123)
2009
12
Striatal [123I] FP-CIT SPECT demonstrates dopaminergic deficit in a sporadic case of Creutzfeldt-Jakob disease. (18638039)
2009
13
Survival and re-operation rates after neurosurgical procedures in Scotland: implications for targeted surveillance of sub-clinical variant Creutzfeldt-Jakob disease. (19299901)
2009
14
Herpes simplex encephalitis as an initial presentation of Creutzfeldt-Jakob disease. (18605370)
2008
15
Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease. (17134829)
2007
16
A new human genotype prone to variant Creutzfeldt-Jakob disease. (16709965)
2006
17
Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. (17047093)
2006
18
Involvement of the peripheral nervous system in human prion diseases including dural graft associated Creutzfeldt-Jakob disease. (15716520)
2005
19
Polymorphism at 3' UTR +28 of the prion-like protein gene is associated with sporadic Creutzfeldt-Jakob disease. (15986038)
2005
20
Is variant Creutzfeldt-Jakob disease in young children misdiagnosed as Alpers' syndrome? An analysis of a national surveillance study. (15146014)
2004
21
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
22
Practical aspects of decontamination of the unconventional transmissible agents that cause sporadic and variant Creutzfeldt-Jakob disease and other similar human diseases. (15448715)
2004
23
Creutzfeldt-Jakob disease presenting as progressive supranuclear palsy. (15142229)
2004
24
A potential cerebrospinal fluid and plasmatic marker for the diagnosis of Creutzfeldt-Jakob disease. (12923775)
2003
25
Chorea as a presenting feature of variant Creutzfeldt-Jakob disease. (12815669)
2003
26
Variant Creutzfeldt-Jakob disease. (14535362)
2003
27
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
28
Ultrastructural changes in the optic nerves of rodents with experimental Creutzfeldt-Jakob Disease (CJD), Gerstmann-StrAoussler-Scheinker disease (GSS) or scrapie. (12921728)
2003
29
Genetic susceptibility to variant Creutzfeldt-Jakob disease. (12583940)
2003
30
BSE and variant Creutzfeldt-Jakob disease: never say never. (12012095)
2002
31
Variant Creutzfeldt-Jakob disease: an unfolding epidemic of misfolded proteins. (12410862)
2002
32
Tonsillectomy and variant Creutzfeldt-Jakob disease. (11902091)
2002
33
New variant Creutzfeldt-Jakob disease--is our practice safe? (11412169)
2001
34
Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease. (11840201)
2001
35
The relationship between new variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (10394138)
1999
36
Prion protein glycotype analysis in familial and sporadic Creutzfeldt-Jakob disease patients. (10483920)
1999
37
New variant Creutzfeldt-Jakob disease is more common in Britain than elsewhere. (9685298)
1998
38
New variant Creutzfeldt-Jakob disease and bovine spongiform encephalopathy. (9494833)
1998
39
Cerebrospinal fluid neuron-specific enolase as a useful indicator for the early diagnosis of Creutzfeldt-Jakob disease]. (9396368)
1997
40
Identification of the prion protein allotypes which accumulate in the brain of sporadic and familial Creutzfeldt-Jakob disease patients. (9142120)
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
Molecular genetic studies of Creutzfeldt-Jakob disease. (7999318)
1994
44
Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt-Jakob disease. (8113733)
1994
45
Functional integrity of benzodiazepine receptors of the geniculo-striate visual pathways in Creutzfeldt-Jakob disease. A pharmacological evoked potential study. (8380846)
1993
46
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. (7902693)
1993
47
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. (1469441)
1992
48
Analysis of the PrP gene in a Tunisian family with Creutzfeldt-Jakob disease]. (1780610)
1991
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:

68
id Symbol AA change Variation ID SNP ID
1PRNPp.Asp178AsnVAR_006469rs74315403
2PRNPp.Val180IleVAR_006470rs74315408
3PRNPp.Glu200LysVAR_006473rs28933385
4PRNPp.Arg208HisVAR_006474rs74315412
5PRNPp.Val210IleVAR_006475rs74315407
6PRNPp.Met232ArgVAR_006478rs74315409
7PRNPp.Glu196LysVAR_008749
8PRNPp.Glu211GlnVAR_008752rs398122370

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.598G> A (p.Glu200Lys)single nucleotide variantPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
3PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398
4PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)single nucleotide variantPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
5PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)single nucleotide variantPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
6PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)single nucleotide variantPathogenicrs74315409GRCh37Chr 20, 4680561: 4680561
7PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
8PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398
9PRNPNM_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 pathwaysScoreTop Affiliating Genes
19.5CST3, EIF2AK2, MAPT, RARB
29.1APOE, CST3, ENO2, MAPT, PRNP, S100B

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
1MHC class II protein complexGO:004261310.8HLA-DQA1, HLA-DQB1
2anchored component of membraneGO:003122510.3PRND, PRNP, SPRN
3neuronal cell bodyGO:00430258.8APOE, CST3, ENO2, PVALB, RPSA, S100B
4cytoplasmGO:00057376.8APOE, AQP1, CST3, EIF2AK2, ENO2, MAPT

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to copper ionGO:007128010.2AQP1, PRNP
2cellular copper ion homeostasisGO:000687810.0PRND, PRNP
3regulation of neuronal synaptic plasticityGO:004816810.0APOE, S100B

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:003239510.5HLA-DQA1, HLA-DQB1
2lamin bindingGO:000552110.0PLCB1, PRNP
3tau protein bindingGO:004815610.0APOE, S100B
4lipoprotein particle bindingGO:00718139.7APOE, MAPT

Sources for Creutzfeldt-Jakob Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet