CJD
MCID: CRT072
MIFTS: 61

Creutzfeldt-Jakob Disease (CJD) malady

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

Aliases & Classifications for Creutzfeldt-Jakob Disease

Aliases & Descriptions for Creutzfeldt-Jakob Disease:

Name: Creutzfeldt-Jakob Disease 54 12 50 51 66 13 52 41 14 69
Variant Creutzfeldt-Jakob Disease 12 50 29 3 14
Cjd 12 50 66
Encephalopathy, Bovine Spongiform 42 69
Bovine Spongiform Encephalopathy 12 3
Creutzfeldt Jakob Disease 12 50
Creutzfeldt-Jacob Disease 12 50
Vcjd 50 3
New Variant Creutzfeldt-Jakob Disease 69
Inherited Creutzfeldt-Jakob Disease 56
Creutzfeldt-Jakob Disease, Sporadic 69
Creutzfeldt-Jakob Disease, Variant 54
Subacute Spongiform Encephalopathy 12
Sporadic Creutzfeldt-Jakob Disease 56
Acquired Creutzfeldt-Jakob Disease 56
Variant Creutzfeldt-Jacob Disease 50
Encephalopathy Bovine Spongiform 52
Transmissible Virus Dementia 12
Creutzfeldt Jacob Syndrome 12
Creutzfeldt-Jakob Syndrome 42
Jakob-Creutzfeldt Disease 12
Creutzfeldt Jacob Disease 50
New Variant of Cjd 50
Inherited Cjd 56
Sporadic Cjd 56
Acquired Cjd 69
Variant Cjd 50
Nv-Cjd 50

Characteristics:

Orphanet epidemiological data:

56
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:

32
creutzfeldt-jakob disease:
Inheritance autosomal dominant inheritance
Onset and clinical course rapidly progressive


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 123400
Disease Ontology 12 DOID:11949 DOID:5435
ICD10 33 A81.0 A81.00
ICD9CM 35 046.1
NCIt 47 C26802
MESH via Orphanet 43 D007562
UMLS via Orphanet 70 C0022336
ICD10 via Orphanet 34 A81.0

Summaries for Creutzfeldt-Jakob Disease

NINDS : 51 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:  sporadic (the most common form, in which people do not have any risk factors for the disease); hereditary (in which the person has a family member with the disease and tests positive for a genetic mutation), and acquired (in which the disease is transmitted by exposure to brain and nervous system tissue, usually through certain medical procedures. A form called variant CJD can be acquired by eating meat from cattle affected by a disease similar to CJD, called bovine spongiform encephalopathy (commonly called “mad cow” disease).  Symptoms of CJD include problems with muscular coordination, personality changes including progressive and severe mental impairment, impaired vision that may lead to blindness, and involuntary muscle jerks called myoclonus.  People eventually lose the ability to move and speak and enter a coma.  Tests that help in the diagnosis of CJD include electroencephalography (which measures brain waves), detection of certain proteins in the fluid that surrounds the brain and spinal cord, and magnetic resonance imaging.. The first concern is to rule out treatable forms of dementia such as encephalitis or chronic meningitis. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. In a brain biopsy, a neurosurgeon removes a small piece of tissue from the person's brain so that it can be examined by a neurologist. Because a correct diagnosis of CJD does not help the individual, a brain biopsy is discouraged unless it is need to rule out a treatable disorder. .

MalaCards based summary : Creutzfeldt-Jakob Disease, also known as variant creutzfeldt-jakob disease, is related to familial creutzfeldt-jakob disease and dementia, and has symptoms including myoclonus, personality changes and gait ataxia. An important gene associated with Creutzfeldt-Jakob Disease is PRNP (Prion Protein), and among its related pathways/superpathways is Neuroscience. The drugs Epinephrine and Formaldehyde have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are behavior/neurological and muscle

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 66 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.

MedlinePlus : 41 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 : 3 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.

OMIM : 54 The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and... (123400) more...

Related Diseases for Creutzfeldt-Jakob Disease

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 120)
id Related Disease Score Top Affiliating Genes
1 familial creutzfeldt-jakob disease 12.5
2 dementia 11.5
3 myoclonus 11.5
4 gerstmann-straussler disease 11.3
5 insomnia, fatal familial 11.1
6 encephalopathy 10.8
7 neuronitis 10.6
8 prion disease 10.5
9 kuru 10.5
10 cerebritis 10.4
11 scrapie 10.4
12 tonsillitis 10.4
13 encephalitis 10.4
14 keratosis palmoplantaris striata 10.3 APOE MAPT
15 repetitive stress injuries 10.3 APOE ENO2
16 myelinoclastic diffuse sclerosis 10.3 ENO2 S100B
17 benign schwannoma 10.3 ENO2 S100B
18 infiltrating renal pelvis transitional cell carcinoma 10.3 ENO2 SYP
19 thymus small cell carcinoma 10.3 ENO2 SYP
20 skeletal-extraskeletal angiomatosis 10.3 ENO2 SYP
21 deafness, autosomal recessive 101 10.3 CRYAB MAPT PRNP
22 autoimmune disease of urogenital tract 10.3 APOE MAPT PRNP
23 prolactin producing pituitary tumor 10.3 ENO2 SYP
24 aphasia 10.2
25 corticobasal degeneration 10.2
26 spasticity 10.2
27 breast reconstruction 10.2 APOE ENO2 S100B
28 glomus tumor 10.2 ENO2 SYP
29 piussan lenaerts mathieu syndrome 10.2 ENO2 S100B SYP
30 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 10.2 APOE CST3 PRNP
31 pediculus humanus corporis infestation 10.2 ENO2 S100B SYP
32 ampulla of vater mucinous adenocarcinoma 10.2 ENO2 S100B SYP
33 scrotum basal cell carcinoma 10.2 MAPT PRNP
34 childhood brain germinoma 10.2 ENO2 S100B SYP
35 central nervous system hemangioma 10.2 ENO2 S100B SYP
36 bone dysplasia azouz type 10.2 APOE MAPT SYP
37 diabetes persistent mullerian ducts 10.2 ENO2 S100B SYP
38 granular cell leiomyosarcoma 10.2 ENO2 S100B SYP
39 epimetaphyseal dysplasia cataract 10.2 ENO2 S100B SYP
40 brachial plexus neuropathy 10.2 ENO2 RARB SYP
41 adult choroid plexus cancer 10.2 PRNP SPRN
42 spastic paraparesis 10.2
43 coenzyme q10 deficiency, primary, 1 10.2 APOE MAPT PRNP
44 contagious pustular dermatitis 10.2 APOE CST3 MAPT PRNP
45 eumycotic mycetoma 10.2 APOE CST3 MAPT PRNP
46 autosomal recessive stickler syndrome 10.2 ENO2 SYP
47 homocystinuria caused by cystathionine beta-synthase deficiency 10.2 APOE HLA-DQB1 PRNP
48 jejunal neuroendocrine tumor 10.2 S100B SYP
49 cerebellar ataxia 10.1
50 cerebral amyloid angiopathy 10.1

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 & Phenotypes for Creutzfeldt-Jakob Disease

Symptoms by clinical synopsis from OMIM:

123400

Clinical features from OMIM:

123400

Human phenotypes related to Creutzfeldt-Jakob Disease:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 personality changes 32 HP:0000751
3 gait ataxia 32 HP:0002066
4 hemiparesis 32 HP:0001269
5 depression 32 HP:0000716
6 hallucinations 32 HP:0000738
7 visual impairment 32 HP:0000505
8 irritability 32 HP:0000737
9 anxiety 32 HP:0000739
10 memory impairment 32 HP:0002354
11 aphasia 32 HP:0002381
12 dementia 32 HP:0000726
13 confusion 32 HP:0001289
14 apathy 32 HP:0000741
15 increased csf protein 32 HP:0002922
16 supranuclear gaze palsy 32 HP:0000605
17 delusions 32 HP:0000746
18 loss of facial expression 32 HP:0005327
19 extrapyramidal muscular rigidity 32 HP:0007076

UMLS symptoms related to Creutzfeldt-Jakob Disease:


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

MGI Mouse Phenotypes related to Creutzfeldt-Jakob Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 APOE CRYAB ENO2 HLA-DQB1 MAPT PRND
2 muscle MP:0005369 9.76 HLA-DQB1 MAPT PRNP RARB SNAP25 APOE
3 nervous system MP:0003631 9.7 APOE CST3 ENO2 HLA-DQB1 MAPT PRND
4 taste/olfaction MP:0005394 8.92 APOE ENO2 MAPT SNAP25

Drugs & Therapeutics for Creutzfeldt-Jakob Disease

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
3 Epinephryl borate Phase 4
4 Pharmaceutical Solutions Phase 4
5 Racepinephrine Phase 4
6 Vasoconstrictor Agents Phase 4
7
Coal tar Approved Phase 2 8007-45-2
8
Quinacrine Approved Phase 2 83-89-6 237
9 Anthelmintics Phase 2
10 Anti-Infective Agents Phase 2
11 Antimalarials Phase 2
12 Antiparasitic Agents Phase 2
13 Antiprotozoal Agents Phase 2
14 Antibodies
15 Immunoglobulins
16 Coagulants
17 Hemostatics
18 Thrombin

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Fibrinogen as an Alternative to FFP in Aortic Surgery. Completed NCT00994045 Phase 4
2 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
3 CJD (Creutzfeldt-Jakob Disease) Quinacrine Study Completed NCT00183092 Phase 2
4 A Trial to Investigate the Relative Efficacy, Safety, and Tolerability of Octaplas LG Versus Octaplas SD Completed NCT01063595 Phase 1
5 Notification of Donors With Positive Microbiology Markers Unknown status NCT01050881
6 The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00721864
7 PRION-1: Quinacrine for Human Prion Disease Completed NCT00104663
8 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
9 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Recruiting NCT02837705
10 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
11 The Role of the Coagulation Pathway at the Synapse in Prion Diseases Not yet recruiting NCT02480725

Search NIH Clinical Center for Creutzfeldt-Jakob Disease

Cochrane evidence based reviews: creutzfeldt-jakob syndrome

Genetic Tests for Creutzfeldt-Jakob Disease

Genetic tests related to Creutzfeldt-Jakob Disease:

id Genetic test Affiliating Genes
1 Jakob-Creutzfeldt Disease 29

Anatomical Context for Creutzfeldt-Jakob Disease

MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

39
Brain, Testes, Spinal Cord, Cerebellum, Tonsil, Cortex, Spleen

Publications for Creutzfeldt-Jakob Disease

Articles related to Creutzfeldt-Jakob Disease:

(show top 50) (show all 963)
id Title Authors Year
1
Redefining periodic patterns on electroencephalograms of patients with sporadic Creutzfeldt-Jakob disease. ( 28319876 )
2017
2
Altered Ca(2+) homeostasis induces Calpain-Cathepsin axis activation in sporadic Creutzfeldt-Jakob disease. ( 28449707 )
2017
3
Cerebrospinal Fluid Biomarker-Based Diagnosis of Sporadic Creutzfeldt-Jakob Disease: A Validation Study for Previously Established Cutoffs. ( 28056460 )
2017
4
Correction: Fatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease. ( 28467504 )
2017
5
Sporadic Creutzfeldt-Jakob Disease in 2 Plasma Product Recipients, United Kingdom. ( 28516863 )
2017
6
Imaging of Creutzfeldt-Jakob Disease: Imaging Patterns and Their Differential Diagnosis. ( 28076012 )
2017
7
MM1-type sporadic Creutzfeldt-Jakob disease with 1-month total disease duration and early pathologic indicators. ( 28402042 )
2017
8
Rare genetic Creutzfeldt-Jakob disease with T188K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. ( 28314738 )
2017
9
Distribution and Quantitative Estimates of Variant Creutzfeldt-Jakob Disease Prions in Tissues of Clinical and Asymptomatic Patients. ( 28518033 )
2017
10
Can Characteristic Mri Brain Substitute Invasive Lumbar Puncture Search For 14-3-3 Immunoassay For Creutzfeldt Jakob Disease? Suggestions From A Case Study ( 28335586 )
2017
11
Prion Strain Characterization of a Novel Subtype of Creutzfeldt-Jakob Disease. ( 28298604 )
2017
12
Probable sporadic Creutzfeldt-Jakob disease mimicking a catatonic depression in an elderly adult. ( 28378508 )
2017
13
Validation of I+-Synuclein as a CSF Biomarker for Sporadic Creutzfeldt-Jakob Disease. ( 28321768 )
2017
14
Sporadic Creutzfeldt-Jakob disease presenting with isolated progressive non-fluent aphasia in a young woman. ( 28444466 )
2017
15
Diagnostic Accuracy of a Combined Analysis of Cerebrospinal Fluid t-PrP, t-tau, p-tau, and AI^42 in the Differential Diagnosis of Creutzfeldt-Jakob Disease from Alzheimer's Disease with Emphasis on Atypical Disease Variants. ( 27886009 )
2017
16
Rapidly progressive dementia with myoclonus: Not Creutzfeldt-Jakob disease. ( 28290426 )
2017
17
Detection of CSF 14-3-3 Protein in Sporadic Creutzfeldt-Jakob Disease Patients Using a New Automated Capillary Western Assay. ( 28509083 )
2017
18
An In Vivo (11)C-(R)-PK11195 PET and In Vitro Pathology Study of Microglia Activation in Creutzfeldt-Jakob Disease. ( 28455699 )
2017
19
Creutzfeldt-Jakob disease, cerebral amyloid angiopathy and AI^-related angiitis with neuropsychiatric manifestations. ( 28176535 )
2017
20
Geographic exposure risk of variant Creutzfeldt-Jakob disease in US blood donors: a risk-ranking model to evaluate alternative donor-deferral policies. ( 28261810 )
2017
21
Serial Magnetic Resonance Imaging in Creutzfeldt-Jakob Disease: a Case Report and Literature Review. ( 28413741 )
2017
22
Rapid testing for Creutzfeldt-Jakob disease in donors of cornea. ( 28072756 )
2017
23
Amyloid- and FDG-PET in sporadic Creutzfeldt-Jakob disease: Correlation with pathological prion protein in neuropathology. ( 28509609 )
2017
24
Creutzfeldt-Jakob disease lookback study: 21 years of surveillance for transfusion transmission risk. ( 28444687 )
2017
25
Sporadic Creutzfeldt Jakob disease. ( 27147142 )
2016
26
Muscle atrophy and fasciculations as a manifestation of sporadic Creutzfeldt-Jakob disease: A case report. ( 27461184 )
2016
27
An autopsy-verified case of FTLD-TDP type A with upper motor neuron-predominant motor neuron disease mimicking MM2-thalamic-type sporadic Creutzfeldt-Jakob disease. ( 27929803 )
2016
28
Creutzfeldt-Jakob disease surveillance in Australia: update to December 2014. ( 27522131 )
2016
29
Familial Creutzfeldt-Jakob Disease Cluster Among an African American Family. ( 27997483 )
2016
30
Autoimmune encephalitis mimicking sporadic Creutzfeldt-Jakob disease: A retrospective study. ( 27235341 )
2016
31
Isolated language impairment as the primary presentation of sporadic Creutzfeldt Jakob Disease. ( 27072062 )
2016
32
A New Standard for the Laboratory Diagnosis of Sporadic Creutzfeldt-Jakob Disease. ( 27942712 )
2016
33
Creutzfeldt-Jakob Disease Presenting With Dizziness and Gaze-Evoked Nystagmus: A Case Report. ( 26886621 )
2016
34
CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease suspected cases with inconclusive 14-3-3 result. ( 27357003 )
2016
35
Creutzfeldt-Jakob Disease: Analysis of Four Cases. ( 27621721 )
2016
36
Roles of methionine oxidation in E200K prion protein misfolding: Implications for the mechanism of pathogenesis in E200K linked familial Creutzfeldt-Jakob disease. ( 26779934 )
2016
37
Proteome Analysis of Potential Synaptic Vesicle Cycle Biomarkers in the Cerebrospinal Fluid of Patients with Sporadic Creutzfeldt-Jakob Disease. ( 27562179 )
2016
38
Visual art therapy in sporadic Creutzfeldt-Jakob disease: a case study. ( 26782687 )
2016
39
MM1-Type Sporadic Creutzfeldt-Jakob Disease With Early Behavioral Changes and Prolonged Symptom Duration. ( 27093388 )
2016
40
Clinical radiological correlation in E200K familial Creutzfeldt-Jakob disease. ( 27624725 )
2016
41
CSF tau correlates with the degree of cortical involvement in E200K familial Creutzfeldt-Jakob disease. ( 27721036 )
2016
42
Validation of 14-3-3 Protein as a Marker in Sporadic Creutzfeldt-Jakob Disease Diagnostic. ( 25947081 )
2016
43
Long-term preclinical magnetic resonance imaging alterations in sporadic Creutzfeldt-Jakob disease. ( 27501375 )
2016
44
Letter to the Editor: Dural arteriovenous fistula mimicking Creutzfeldt-Jakob disease. ( 27104843 )
2016
45
A hospital-based registry of Creutzfeldt-Jakob disease: Can neuroimaging serve as a surrogate biomarker? ( 27147147 )
2016
46
Advanced tests for early and accurate diagnosis of Creutzfeldt-Jakob disease. ( 27174240 )
2016
47
Systematic reviews in paediatric multiple sclerosis and Creutzfeldt-Jakob disease exemplify shortcomings in methods used to evaluate therapies in rare conditions. ( 26897367 )
2016
48
Guinea pig prion protein supports rapid propagation of bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease prions. ( 27440899 )
2016
49
Sporadic Creutzfeldt-Jakob disease diagnostic accuracy is improved by a new CSF ELISA 14-3-3I^ assay. ( 26940479 )
2016
50
A Corticobasal Syndrome Variant of Familial Creutzfeldt-Jakob Disease with Stroke-Like Onset. ( 27803826 )
2016

Variations for Creutzfeldt-Jakob Disease

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

66
id Symbol AA change Variation ID SNP ID
1 PRNP p.Asp178Asn VAR_006469 rs74315403
2 PRNP p.Val180Ile VAR_006470 rs74315408
3 PRNP p.Glu200Lys VAR_006473 rs28933385
4 PRNP p.Arg208His VAR_006474 rs74315412
5 PRNP p.Val210Ile VAR_006475 rs74315407
6 PRNP p.Met232Arg VAR_006478 rs74315409
7 PRNP p.Glu196Lys VAR_008749
8 PRNP p.Glu211Gln VAR_008752 rs398122370

ClinVar genetic disease variations for Creutzfeldt-Jakob Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 GRCh37 Chromosome 20, 4680026: 4680049
2 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant risk factor rs1799990 GRCh37 Chromosome 20, 4680251: 4680251
3 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
4 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh37 Chromosome 20, 4680398: 4680398
5 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
6 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Pathogenic rs74315408 GRCh37 Chromosome 20, 4680404: 4680404
7 PRNP NM_000311.4(PRNP): c.623G> A (p.Arg208His) single nucleotide variant Pathogenic rs74315412 GRCh37 Chromosome 20, 4680489: 4680489
8 PRNP NM_000311.4(PRNP): c.631G> C (p.Glu211Gln) single nucleotide variant Pathogenic rs398122370 GRCh37 Chromosome 20, 4680497: 4680497

Expression for Creutzfeldt-Jakob Disease

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

Pathways for Creutzfeldt-Jakob Disease

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

id Super pathways Score Top Affiliating Genes
1 11.74 APOE CST3 ENO2 MAPT PRNP S100B

GO Terms for Creutzfeldt-Jakob Disease

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

id Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.46 CST3 SNAP25 SPRN STMN2
2 axon GO:0030424 9.35 CRYAB CST3 MAPT SNAP25 STMN2
3 somatodendritic compartment GO:0036477 9.26 MAPT SNAP25
4 neuronal cell body GO:0043025 9.17 APOE CST3 ENO2 MAPT RPSA S100B
5 cytoplasm GO:0005737 10.17 APOE CRYAB CST3 EIF2AK2 ENO2 MAPT

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

id Name GO ID Score Top Affiliating Genes
1 cellular copper ion homeostasis GO:0006878 9.32 PRND PRNP
2 supramolecular fiber organization GO:0097435 9.26 CST3 MAPT
3 regulation of microtubule polymerization or depolymerization GO:0031110 9.16 MAPT STMN2
4 negative regulation of long-term synaptic potentiation GO:1900272 8.96 APOE PRNP
5 regulation of neuronal synaptic plasticity GO:0048168 8.8 APOE S100B SYP

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

id Name GO ID Score Top Affiliating Genes
1 calcium-dependent protein binding GO:0048306 9.5 S100B SNAP25 STMN2
2 identical protein binding GO:0042802 9.5 APOE CRYAB CST3 MAPT PRNP S100B
3 tau protein binding GO:0048156 9.37 APOE S100B
4 beta-amyloid binding GO:0001540 9.33 APOE CST3 PRNP
5 lipoprotein particle binding GO:0071813 9.26 APOE MAPT
6 tubulin binding GO:0015631 8.92 MAPT PRNP STMN2 TPPP3

Sources for Creutzfeldt-Jakob Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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