MCID: CRT072
MIFTS: 60

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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Aliases & Descriptions for Creutzfeldt-Jakob Disease:

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

Characteristics:

HPO:

61
creutzfeldt-jakob disease:
Onset and clinical course: rapidly progressive
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 123400
Disease Ontology10 DOID:11949, DOID:5435
ICD1027 A81.0, A81.00
ICD9CM29 046.1
NCIt42 C26802
UMLS65 C0022336, C0085209, C0376329

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 cerebritis and atopic dermatitis, and has symptoms including extrapyramidal muscular rigidity, loss of facial expression and increased csf protein. An important gene associated with Creutzfeldt-Jakob Disease is PRNP (Prion Protein), and among its related pathways are Epstein-Barr virus infection and Interferon gamma signaling. Affiliated tissues include brain, testes and breast, and related mouse phenotypes are vision/eye and muscle.

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,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 Sporadic Creutzfeldt-Jakob Disease
Inherited Creutzfeldt-Jakob Disease Acquired Creutzfeldt-Jakob Disease

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

(show top 50)    (show all 544)
idRelated DiseaseScoreTop Affiliating Genes
1cerebritis31.3APOE, MAPT, RPS27A
2atopic dermatitis30.7APOE, CRYAB, MAPT, PRNP
3atrial fibrillation30.4MAPT, PRNP, YWHAZ
4gerstmann-straussler disease26.8APOE, AQP1, CNBP, CRYAB, EIF2AK2, ENO2
5sporadic creutzfeldt-jakob disease12.9
6inherited creutzfeldt-jakob disease12.8
7familial creutzfeldt-jakob disease12.8
8acquired creutzfeldt-jakob disease12.7
9prion disease10.9
10endotheliitis10.8
11leukemia10.8
12hepatitis10.7
13lymphoma10.7
14insomnia, fatal familial10.7
15breast cancer10.7
16prostatitis10.7
17obesity10.6
18lung cancer10.6
19prostate cancer10.6
20retinitis10.6
21neuronitis10.6
22ovarian cancer10.6
23focal myositis10.5APOE, MAPT
24schizophrenia10.5
25hepatocellular carcinoma10.5
26arthritis10.5
27myeloid leukemia10.5
28lupus erythematosus10.5
29pinched nerve10.5APOE, ENO2
30isolated tracheo-esophageal fistula10.5APOE, MAPT
31systemic lupus erythematosus10.5
32keratitis10.5
33gastric cancer10.5
34down syndrome10.5
35melanoma10.5
36lateral sclerosis10.5
37adenocarcinoma10.5
38pancreatitis10.5
39adenoma10.5
40thyroiditis10.5
41aneurysm10.5
42localized pagetoid reticulosis10.5PRND, PRNP
43familial mediterranean fever type 110.5APOE, PRND, PRNP
44colorectal cancer10.4
45renal cell carcinoma10.4
46glomerulonephritis10.4
47mannosidosis10.4
48retinal vein occlusion10.4
49artery disease10.4
50urethritis10.4

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 extrapyramidal muscular rigidity HP:0007076
2 loss of facial expression HP:0005327
3 increased csf protein HP:0002922
4 aphasia HP:0002381
5 memory impairment HP:0002354
6 gait ataxia HP:0002066
7 myoclonus HP:0001336
8 confusion HP:0001289
9 hemiparesis HP:0001269
10 personality changes HP:0000751
11 delusions HP:0000746
12 apathy HP:0000741
13 anxiety HP:0000739
14 hallucinations HP:0000738
15 irritability HP:0000737
16 dementia HP:0000726
17 depression HP:0000716
18 supranuclear gaze palsy HP:0000605
19 visual impairment HP:0000505

Drugs & Therapeutics for Creutzfeldt-Jakob Disease

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

(show all 8)
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 2165
3Antiprotozoal AgentsPhase 21730
4Antiparasitic AgentsPhase 21854
5Anti-Infective AgentsPhase 217220
6AntimalarialsPhase 21058
7AnthelminticsPhase 2379
8Thrombin269

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: creutzfeldt-jakob syndrome

Genetic Tests for Creutzfeldt-Jakob Disease

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Anatomical Context for Creutzfeldt-Jakob Disease

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MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

33
Brain, Testes, Breast, Lung, Prostate, Heart, T cells

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:00053918.7APOE, AQP1, CNBP, CRYAB, MAPT, PRNP
2MP:00053698.6APOE, CRYAB, HLA-DQB1, MAPT, PRNP, PVALB
3MP:00053978.3APOE, AQP1, EIF2AK2, HLA-DQA1, HLA-DQB1, MAPT
4MP:00053848.1APOE, CNBP, CRYAB, EIF2AK2, ENO2, HLA-DQB1
5MP:00036318.0APOE, AQP1, CNBP, ENO2, HLA-DQB1, MAPT
6MP:00053867.8APOE, AQP1, CRYAB, ENO2, HLA-DQB1, MAPT

Publications for Creutzfeldt-Jakob Disease

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Articles related to Creutzfeldt-Jakob Disease:

(show top 50)    (show all 866)
idTitleAuthorsYear
1
Pancytopenia During Parenteral Nutrition. (27167899)
2016
2
HOTAIR is a predictive and prognostic biomarker for patients with advanced gastric adenocarcinoma receiving fluorouracil and platinum combination chemotherapy. (26328013)
2015
3
Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion. (24496499)
2014
4
Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder. (24665329)
2014
5
Expression of Bcl2L12 in chronic lymphocytic leukemia patients: association with clinical and molecular prognostic markers. (23292833)
2013
6
Low risk of renal flares and negative outcomes in women with lupus nephritis conceiving after switching from mycophenolate mofetil to azathioprine. (23382355)
2013
7
Empirical antimicrobial therapy for critically ill patients with Acinetobacter baumannii bacteremia: combination is better. (23632604)
2013
8
Maxillary advancement with conventional orthognathic surgery in patients with cleft lip and palate: is it a stable technique? (22677329)
2012
9
The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias]. (23113340)
2012
10
A preliminary study on the regulation mechanism of p38MAPK on MUC5AC in allergic rhinitis]. (22239058)
2011
11
Systematic evaluation of genetic variants in three biological pathways on patient survival in low-stage non-small cell lung cancer. (21792076)
2011
12
Analysis of a lipid biosynthesis protein family and phospholipid structural variations. (20238429)
2010
13
Structural characterization of the DAXX N-terminal helical bundle domain and its complex with Rassf1C. (21134643)
2010
14
Effect of a matrix metalloproteinase sequestering biomaterial on Caco-2 epithelial cell barrier integrity in vitro. (19307161)
2009
15
AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice. (19619312)
2009
16
The interaction of DRD2 and violent victimization on depression: an analysis by gender and race. (18501970)
2009
17
sIL-6R: more than an agonist? (17724457)
2008
18
GABAA receptor RDL inhibits Drosophila olfactory associative learning. (18093529)
2007
19
Responses of inflammatory markers to a low-fat, high-carbohydrate diet: effects of energy intake. (16600927)
2006
20
Identification of a keratinocarcinoma cell line expressing AQP3. (15898954)
2006
21
Validation of basophil histamine release against the autologous serum skin test and outcome of serum-induced basophil histamine release studies in a large population of chronic urticaria patients. (16076300)
2005
22
HERG K+ channel expression-related chemosensitivity in cancer cells and its modulation by erythromycin. (15812674)
2005
23
Investigations on four host response factors whose expression is enhanced in X4 SHIV encephalitis. (15579283)
2004
24
PDGF and FGF induce focal adhesion kinase (FAK) phosphorylation at Ser-910: dissociation from Tyr-397 phosphorylation and requirement for ERK activation. (15174091)
2004
25
Impairment of SHOX nuclear localization as a cause for LAcri-Weill syndrome. (15173321)
2004
26
Group 6 heteroatom- and non-heteroatom-stabilized carbene complexes. beta,beta'- and alpha,beta,beta'-annulation reactions of cyclic enamines. (12580610)
2003
27
Prostate expression of N-acetyltransferase 1 (NAT1) and 2 (NAT2) in rapid and slow acetylator congenic Syrian hamster. (12618593)
2003
28
C-reactive protein levels are influenced by common IL-1 gene variations. (11991668)
2002
29
Occult Leydig cell tumor in a patient with gynecomastia. (11497478)
2001
30
Increased levels of circulating soluble CD14 in Kawasaki disease. (10632678)
2000
31
Heterogeneous apoptotic responses of prostate cancer cell lines identify an association between sensitivity to staurosporine-induced apoptosis, expression of Bcl-2 family members, and caspase activation. (10679755)
2000
32
Expression of specific chemokines and chemokine receptors in the central nervous system of multiple sclerosis patients. (10079101)
1999
33
Antimicrobial peptides/proteins--application to the therapy of sepsis]. (10586550)
1999
34
Long-term administration of atrial natriuretic peptide in patients with acute heart failure. (10367599)
1999
35
Defining folding and unfolding reactions of apocytochrome b5 using equilibrium and kinetic fluorescence measurements. (10413531)
1999
36
NPY receptor subtype in the rabbit isolated ileum. (10401572)
1999
37
Atypically low rate of cytochrome b evolution in the scleractinian coral genus Acropora. (10097392)
1999
38
Combination therapy with insulin and metformin. (15251717)
1998
39
Porous bioactive glass and hydroxyapatite ceramic affect bone cell function in vitro along different time lines. (9261678)
1997
40
Lymphotactin gene expression in mast cells following Fc(epsilon) receptor I aggregation: modulation by TGF-beta, IL-4, dexamethasone, and cyclosporin A. (9013979)
1997
41
Expression of somatostatin receptor genes and their role in inhibiting Cl- secretion in HT-29cl.19A colonocytes. (7491965)
1995
42
Post-heparin plasma lipase activity in hypopituitary adults. (7590635)
1995
43
Response of malignant glioma cell lines to epidermal growth factor and platelet-derived growth factor in a serum-free medium. (2352010)
1990
44
The complete islet amyloid polypeptide precursor is encoded by two exons. (2651160)
1989
45
COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. (14271308)
1965
46
47
48
49
50

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.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 pathwaysScoreTop Affiliating Genes
19.6EIF2AK2, HLA-DQA1, HLA-DQB1, YWHAZ
2
Show member pathways
9.5EIF2AK2, HLA-DQA1, HLA-DQB1, RPS27A

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:004261310.6HLA-DQA1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.4HLA-DQA1, HLA-DQB1
3cytosolic small ribosomal subunitGO:002262710.3RPS27A, RPSA
4endosome membraneGO:00100089.8HLA-DQA1, HLA-DQB1, RPS27A
5vesicleGO:00319829.7SPRN, STMN2

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

idNameGO IDScoreTop Affiliating Genes
1regulation of neuronal synaptic plasticityGO:004816810.5APOE, S100B
2regulation of cell deathGO:001094110.4CRYAB, YWHAZ
3virion assemblyGO:001906810.2APOE, RPS27A
4negative regulation of apoptotic processGO:00430668.9AQP1, CRYAB, PRNP, RARB, RPS27A, YWHAZ

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