CJD
MCID: CRT072
MIFTS: 67

Creutzfeldt-Jakob Disease (CJD)

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

Aliases & Classifications for Creutzfeldt-Jakob Disease

MalaCards integrated aliases for Creutzfeldt-Jakob Disease:

Name: Creutzfeldt-Jakob Disease 58 12 77 54 55 76 13 56 44 15 41 74
Variant Creutzfeldt-Jakob Disease 12 54 3 15 17
Cjd 58 12 54 76
Bovine Spongiform Encephalopathy 12 3 15
Jakob-Creutzfeldt Disease 12 30 6
Creutzfeldt-Jakob Disease, Familial 58 74
Encephalopathy, Bovine Spongiform 45 74
Creutzfeldt Jakob Disease 12 54
Creutzfeldt-Jacob Disease 12 54
Creutzfeldt Jacob Disease 54 17
Vcjd 54 3
Creutzfeldt-Jakob Disease, Variant, Resistance to 58
New Variant Creutzfeldt-Jakob Disease 74
Inherited Creutzfeldt-Jakob Disease 60
Creutzfeldt-Jakob Disease, Sporadic 74
Creutzfeldt-Jakob Disease, Variant 58
Subacute Spongiform Encephalopathy 12
Sporadic Creutzfeldt-Jakob Disease 60
Acquired Creutzfeldt-Jakob Disease 60
Familial Creutzfeldt-Jakob Disease 56
Variant Creutzfeldt-Jacob Disease 54
Encephalopathy Bovine Spongiform 56
Transmissible Virus Dementia 12
Creutzfeldt Jacob Syndrome 12
Creutzfeldt-Jakob Syndrome 45
New Variant of Cjd 54
Inherited Cjd 60
Sporadic Cjd 60
Acquired Cjd 74
Variant Cjd 54
Nv-Cjd 54

Characteristics:

Orphanet epidemiological data:

60
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;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
most cases are sporadic
mean age at onset for sporadic cjd is 60 years (range, 50 to 70 years)
mean age at onset for variant cjd is 29 years (before age 45 years)
rapid progression
mean survival 5 months
three forms of cjd: acquired (including variant), sporadic, and inherited
incidence of all forms of cjd is 0.5 to 1.5 per million per year
15% cases are familial
patients with variant cjd are homozygous for met129 polymorphism


HPO:

33
creutzfeldt-jakob disease:
Onset and clinical course rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Creutzfeldt-Jakob Disease

NINDS : 55 Creutzfeldt-Jakob disease (CJD) is a rare, degenerative, fatal brain disorder. Onset of symptoms typically occurs at about age 60. There are three major categories of CJD:  sporadic (the most common form, in which people do not have any known risk factors for the disease); hereditary (in which the person has a family member with the disease and tests positive for a genetic mutation associated with CJD), 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). CJD cannot be transmitted through the air or through touching or most other forms of casual contact. Initial symptoms of CJD include problems with muscle coordination, personality changes including progressive and impaired thinking and judgment, vision problems 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 records the brain's electrical pattern), detection of certain proteins in the fluid that surrounds the brain and spinal cord, and magnetic resonance imaging. The only way to confirm a diagnosis of CJD is by brain biopsy or autopsy. A brain biopsy is discouraged unless it is need to rule out a treatable disorder.  CJD belongs to a family of diseases known as prion diseases--derived from "protein" and "infectious."

MalaCards based summary : Creutzfeldt-Jakob Disease, also known as variant creutzfeldt-jakob disease, is related to gerstmann-straussler disease and dementia, and has symptoms including seizures, tremor and myoclonus. An important gene associated with Creutzfeldt-Jakob Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Neuroscience and Copper homeostasis. The drugs Formaldehyde and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are emotional lability and depressivity

NIH Rare Diseases : 54 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.

OMIM : 58 The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Acquired prion diseases include iatrogenic CJD, kuru (245300), variant CJD (vCJD) in humans, scrapie in sheep, and bovine spongiform encephalopathy (BSE) in cattle. Variant CJD is believed to be acquired from cattle infected with BSE. However, the majority of human cases of prion disease occur as sporadic CJD (sCJD) (Collinge et al., 1996; Parchi et al., 2000; Hill et al., 2003). Johnson and Gibbs (1998) provided a comprehensive review of Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. Tyler (2003) described the characteristics of sporadic CJD as encapsulated by C. Miller Fisher in 1960. (123400)

MedlinePlus : 44 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.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Creutzfeldt–Jakob disease (CJD), also known as classic Creutzfeldt–Jakob disease, is a fatal... more...

Related Diseases for Creutzfeldt-Jakob Disease

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

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 gerstmann-straussler disease 33.1 APP MSMB PRNP
2 dementia 33.1 APOE APP MAPT PRNP
3 scrapie 32.0 APP ENO2 MSMB PRND PRNP RPSA
4 prion disease 31.8 APP ENO2 MAPT MSMB PRND PRNP
5 genetic prion diseases 31.5 APOE PRNP
6 aphasia 31.3 APOE APP MAPT PRNP
7 supranuclear palsy, progressive, 1 31.2 APOE APP MAPT
8 huntington disease-like 1 31.1 APOE PRNP
9 akinetic mutism 31.1 ENO2 MAPT PRNP
10 frontotemporal dementia 31.0 APOE APP MAPT PRNP
11 alzheimer disease 30.8 APOE APP CST3 EIF2AK2 MAPT PRNP
12 cerebral hemorrhage 30.7 APP CST3
13 chronic wasting disease 30.6 PRNP SPRN
14 pick disease of brain 30.6 APOE APP MAPT
15 inclusion body myositis 30.6 APOE APP MAPT
16 cerebral amyloid angiopathy, cst3-related 30.6 APOE APP CST3 MAPT PRNP SERPINA3
17 disease of mental health 30.5 APOE APP MAPT PVALB
18 dementia, lewy body 30.5 APOE APP MAPT PRNP
19 amyotrophic lateral sclerosis 1 30.5 APP CST3 EIF2AK2 MAPT PRNP PVALB
20 hydrocephalus 30.4 APOE APP ENO2 MAPT
21 amyloidosis 30.4 APOE APP CST3
22 kuru 11.8
23 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.8
24 myoclonus 11.8
25 hydrocephalus, normal-pressure 11.7
26 familial creutzfeld-jakob disease 11.5
27 barber-say syndrome 11.4
28 cerebellar degeneration 11.4
29 encephalopathy 11.2
30 pityriasis rubra pilaris 10.9
31 fatal familial insomnia 10.8
32 status epilepticus 10.8
33 encephalitis 10.7
34 corticobasal degeneration 10.7
35 multiple sclerosis 10.5
36 peripheral nervous system disease 10.5
37 neuropathy 10.5
38 autoimmune encephalitis 10.5
39 depression 10.5
40 lateral sclerosis 10.5
41 wernicke encephalopathy 10.5
42 hereditary cerebral amyloid angiopathy 10.4 APP CST3
43 intracranial cysts 10.4 ENO2 S100B
44 persistent vegetative state 10.4 APOE ENO2
45 bednar tumor 10.4 ENO2 S100B
46 simultanagnosia 10.4 APOE MAPT
47 aceruloplasminemia 10.4
48 patulous eustachian tube 10.4
49 movement disease 10.4
50 dystonia 10.4

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

Human phenotypes related to Creutzfeldt-Jakob Disease:

60 33 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 60 33 frequent (33%) Frequent (79-30%) HP:0000712
2 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
3 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
4 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
5 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
6 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
7 myoclonus 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001336
8 slurred speech 60 33 frequent (33%) Frequent (79-30%) HP:0001350
9 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
10 gait ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002066
11 babinski sign 60 33 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0003487
12 stroke-like episode 60 33 frequent (33%) Frequent (79-30%) HP:0002401
13 dementia 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000726
14 confusion 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001289
15 clumsiness 60 33 frequent (33%) Frequent (79-30%) HP:0002312
16 insomnia 60 33 frequent (33%) Frequent (79-30%) HP:0100785
17 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
18 bradykinesia 60 33 frequent (33%) Frequent (79-30%) HP:0002067
19 central nervous system degeneration 60 33 frequent (33%) Frequent (79-30%) HP:0007009
20 hypersomnia 60 33 frequent (33%) Frequent (79-30%) HP:0100786
21 neuronal loss in central nervous system 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0002529
22 akinetic mutism 60 33 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0012672
23 astrocytosis 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002446
24 apathy 60 33 frequent (33%) Frequent (79-30%) HP:0000741
25 personality changes 60 33 frequent (33%) Frequent (79-30%) HP:0000751
26 supranuclear gaze palsy 60 33 frequent (33%) Frequent (79-30%) HP:0000605
27 spastic dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0002464
28 loss of facial expression 60 33 frequent (33%) Frequent (79-30%) HP:0005327
29 global brain atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002283
30 focal t2 hyperintense basal ganglia lesion 60 33 frequent (33%) Frequent (79-30%) HP:0007183
31 spastic hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0011099
32 short attention span 60 33 frequent (33%) Frequent (79-30%) HP:0000736
33 progressive extrapyramidal muscular rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0007158
34 poor visual behavior for age 60 33 frequent (33%) Frequent (79-30%) HP:0025152
35 diffuse spongiform leukoencephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0006943
36 progressive forgetfulness 60 33 frequent (33%) Frequent (79-30%) HP:0007017
37 eeg with persistent abnormal rhythmic activity 60 33 frequent (33%) Frequent (79-30%) HP:0010846
38 senile plaques 60 33 frequent (33%) Frequent (79-30%) HP:0100256
39 abnormal autonomic nervous system physiology 33 frequent (33%) HP:0012332
40 chorea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002072
41 hallucinations 60 33 occasional (7.5%) Occasional (29-5%) HP:0000738
42 increased csf protein 60 33 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002922
43 delusions 60 33 occasional (7.5%) Occasional (29-5%) HP:0000746
44 trigeminal neuralgia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100661
45 abnormal pupillary function 60 33 occasional (7.5%) Occasional (29-5%) HP:0007686
46 vestibular nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0010542
47 amyloidosis of peripheral nerves 60 33 occasional (7.5%) Occasional (29-5%) HP:0100292
48 visual impairment 60 33 Occasional (29-5%) HP:0000505
49 memory impairment 60 33 Frequent (79-30%) HP:0002354
50 nystagmus 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Behavioral Psychiatric Manifestations:
hallucinations
irritability
anxiety
apathy
personality changes
more
Head And Neck Face:
loss of facial expression

Neurologic Central Nervous System:
myoclonus
gait ataxia
aphasia
dementia
confusion
more
Laboratory Abnormalities:
normal cerebrospinal fluid
occasionally mild elevation of csf protein

Clinical features from OMIM:

123400

UMLS symptoms related to Creutzfeldt-Jakob Disease:


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

MGI Mouse Phenotypes related to Creutzfeldt-Jakob Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 APOE APP ENO2 HLA-DQB1 MAPT PRND
2 muscle MP:0005369 9.76 APOE APP CST3 HLA-DQB1 MAPT PRNP
3 nervous system MP:0003631 9.7 APOE APP CST3 ENO2 HLA-DQB1 MAPT
4 normal MP:0002873 9.23 APP HLA-DQB1 MAPT PRNP PVALB RARB

Drugs & Therapeutics for Creutzfeldt-Jakob Disease

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Racepinephrine Approved Phase 4 329-65-7 838
4 Vasoconstrictor Agents Phase 4
5 Pharmaceutical Solutions Phase 4
6 Epinephryl borate Phase 4
7
Coal tar Approved Phase 2 8007-45-2
8
Quinacrine Investigational Phase 2,Not Applicable 83-89-6 237
9 Anthelmintics Phase 2,Not Applicable
10 Antiparasitic Agents Phase 2,Not Applicable
11 Anti-Infective Agents Phase 2,Not Applicable
12 Antimalarials Phase 2,Not Applicable
13 Antiprotozoal Agents Phase 2,Not Applicable
14
Thrombin Approved, Investigational
15 Coagulants
16 Hemostatics
17 Immunologic Factors
18 Immunoglobulins
19 Antibodies

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 SOLFAMU Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
2 Fibrinogen as an Alternative to FFP in Aortic Surgery. Completed NCT00994045 Phase 4
3 Comparative Study of Two Corneal Graft Storage Media: New Animal Compound Free Medium Versus Reference Medium Completed NCT01694914 Phase 3
4 CJD (Creutzfeldt-Jakob Disease) Quinacrine Study Completed NCT00183092 Phase 2 Quinacrine;Placebo
5 A Trial to Investigate the Relative Efficacy, Safety, and Tolerability of Octaplas LG Versus Octaplas SD Completed NCT01063595 Phase 1
6 Notification of Donors With Positive Microbiology Markers Unknown status NCT01050881
7 The Role of the Coagulation Pathway at the Synapse in Prion Diseases Not yet recruiting NCT02480725
8 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
9 The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00721864
10 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Active, not recruiting NCT02837705
11 PRION-1: Quinacrine for Human Prion Disease Completed NCT00104663 Not Applicable Quinacrine
12 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246

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:

# Genetic test Affiliating Genes
1 Jakob-Creutzfeldt Disease 30 HLA-DQB1 PRNP

Anatomical Context for Creutzfeldt-Jakob Disease

MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

42
Brain, Testes, Spinal Cord, Cortex, Pituitary, Cerebellum, Eye

Publications for Creutzfeldt-Jakob Disease

Articles related to Creutzfeldt-Jakob Disease:

(show top 50) (show all 3073)
# Title Authors Year
1
Heidenhain variant sporadic Creutzfeldt-Jakob disease diagnosed as an autoimmune encephalitis due to a false-positive GAD autoantibody. ( 31061195 )
2019
2
Cerebrospinal Fluid Total and Phosphorylated α-Synuclein in Patients with Creutzfeldt-Jakob Disease and Synucleinopathy. ( 30136097 )
2019
3
Cerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease. ( 30309804 )
2019
4
Rare histotype of sporadic Creutzfeldt-Jakob disease, clinically suspected as corticobasal degeneration. ( 30850568 )
2019
5
Cortical Hyperintensity on Diffusion-weighted Images as the Presymptomatic Marker of Sporadic Creutzfeldt-Jakob Disease. ( 30333395 )
2019
6
Prion-related peripheral neuropathy in sporadic Creutzfeldt-Jakob disease. ( 30355606 )
2019
7
An autopsied case of MM1-type sporadic Creutzfeldt-Jakob disease with pathology of Wernicke encephalopathy. ( 30409087 )
2019
8
A new neurobehavioral phenotype of familial Creutzfeldt-Jakob disease: impaired theory of mind. ( 30483993 )
2019
9
Disease duration in E200K familial Creutzfeldt-Jakob disease is correlated with clinical, radiological, and laboratory variables. ( 30498951 )
2019
10
Creutzfeldt-Jakob Disease. ( 30615045 )
2019
11
Editors' note: Teaching NeuroImages: DWI and EEG findings in Creutzfeldt-Jakob disease. ( 30617170 )
2019
12
Reader response: Teaching NeuroImages: DWI and EEG findings in Creutzfeldt-Jakob disease. ( 30617171 )
2019
13
Author response: Teaching NeuroImages: DWI and EEG findings in Creutzfeldt-Jakob disease. ( 30617172 )
2019
14
Variant Creutzfeldt-Jakob Disease Presenting as New-onset Psychosis. ( 30633734 )
2019
15
Editors' note: In vivo [18F]-AV-1451 tau-PET imaging in sporadic Creutzfeldt-Jakob disease. ( 30643029 )
2019
16
Reader response: In vivo [18F]-AV-1451 tau-PET imaging in sporadic Creutzfeldt-Jakob disease. ( 30643030 )
2019
17
Author response: In vivo [18F]-AV-1451 tau-PET imaging in sporadic Creutzfeldt-Jakob disease. ( 30643031 )
2019
18
Pathological and/or clinical work-up are required in atypical Creutzfeldt-Jakob disease cases with periodic lateralised epileptiform discharge. ( 30723966 )
2019
19
Structural signature of sporadic Creutzfeldt-Jakob disease. ( 30735286 )
2019
20
Coexistent Vestibular Schwannoma and Creutzfeldt-Jakob Disease: Recognition and Infection Control. ( 30742601 )
2019
21
The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients. ( 30755683 )
2019
22
Additional value of tau protein measurement in the diagnosis of Creutzfeldt-Jakob disease. ( 30785245 )
2019
23
Probable sporadic Creutzfeldt-Jakob disease mimicking focal epilepsy. ( 30788213 )
2019
24
Accumulation of prion protein in the vagus nerve in Creutzfeldt-Jakob disease. ( 30801763 )
2019
25
Sporadic Creutzfeldt-Jakob Disease in a Young Girl With Unusually Long Survival. ( 30856268 )
2019
26
Clinicopathological features of the rare form of Creutzfeldt-Jakob disease in R208H-V129V PRNP carrier. ( 30898147 )
2019
27
Diffusion-weighted imaging negative M232R familial Creutzfeldt-Jakob disease. ( 30910549 )
2019
28
Early cortical and late striatal diffusion restriction on 3T MRI in a long-lived sporadic creutzfeldt-jakob disease case. ( 30912188 )
2019
29
The insomnia phenotype in genetic Creutzfeldt-Jakob disease based on the E200K mutation. ( 30922182 )
2019
30
A Novel Combination of Prion Strain Co-Occurrence in Patients with Sporadic Creutzfeldt-Jakob Disease. ( 30926338 )
2019
31
Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes. ( 30938429 )
2019
32
Familial Creutzfeldt-Jakob Disease: The First Reported Kindred from South-East Asia. ( 31007442 )
2019
33
Dura mater graft-associated Creutzfeldt-Jakob disease with an incubation period of 30 years, mimicking non-convulsive status epilepticus. ( 31037708 )
2019
34
Association of Blood and Cerebrospinal Fluid Tau Level and Other Biomarkers With Survival Time in Sporadic Creutzfeldt-Jakob Disease. ( 31058916 )
2019
35
Autopsied case of sporadic Creutzfeldt-Jakob disease classified as MM1+2C-type. ( 31062411 )
2019
36
Variant Creutzfeldt-Jakob disease strain is identical in individuals of two PRNP codon 129 genotypes. ( 31077583 )
2019
37
Genetic Creutzfeldt-Jakob disease affected monozygotic twins: Analysis of survival time, age at death and possible exogenous risk factors. ( 31097381 )
2019
38
Muscle atrophy and fasciculations as a manifestation of sporadic Creutzfeldt-Jakob disease: A case report. ( 27461184 )
2019
39
Genetic Creutzfeldt-Jakob disease. ( 29887139 )
2018
40
Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family: An Investigation of Prions Transmission via Microchimerism. ( 29889261 )
2018
41
Correction to: Case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito. ( 29895271 )
2018
42
Diagnosis of Methionine/Valine Variant Creutzfeldt-Jakob Disease by Protein Misfolding Cyclic Amplification. ( 29912702 )
2018
43
Amended diagnostic protocol increases the early diagnosis of sporadic Creutzfeldt-Jakob disease. ( 29934422 )
2018
44
Validation and utilization of amended diagnostic criteria in Creutzfeldt-Jakob disease surveillance. ( 29934424 )
2018
45
Parkinsonism Associated with Pathological 123I-FP-CIT SPECT (DaTSCAN) Results as the Initial Manifestation of Sporadic Creutzfeldt-Jakob Disease. ( 29955403 )
2018
46
Teaching NeuroImages: Cerebral cortex swelling in Creutzfeldt-Jakob disease with V180I mutation. ( 29987185 )
2018
47
Altered gene transcription linked to astrocytes and oligodendrocytes in frontal cortex in Creutzfeldt-Jakob disease. ( 30009661 )
2018
48
Unusual Clinical Presentations Challenging the Early Clinical Diagnosis of Creutzfeldt-Jakob Disease. ( 30010123 )
2018
49
Predictive Factors for Early Initiation of Artificial Feeding in Patients With Sporadic Creutzfeldt-Jakob Disease. ( 30018588 )
2018
50
Susceptibility to Creutzfeldt-Jakob disease after human growth hormone treatment in France. ( 30045957 )
2018

Variations for Creutzfeldt-Jakob Disease

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

76
# 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 (show all 18)
# 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) NT expansion Pathogenic rs193922906 GRCh38 Chromosome 20, 4699380: 4699403
3 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh37 Chromosome 20, 4680251: 4680251
4 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh38 Chromosome 20, 4699605: 4699605
5 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh37 Chromosome 20, 4680464: 4680464
6 PRNP NM_000311.4(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 GRCh38 Chromosome 20, 4699818: 4699818
7 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh37 Chromosome 20, 4680398: 4680398
8 PRNP NM_000311.4(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 GRCh38 Chromosome 20, 4699752: 4699752
9 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh37 Chromosome 20, 4680494: 4680494
10 PRNP NM_000311.4(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 GRCh38 Chromosome 20, 4699848: 4699848
11 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Likely pathogenic rs74315408 GRCh37 Chromosome 20, 4680404: 4680404
12 PRNP NM_000311.4(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Likely pathogenic rs74315408 GRCh38 Chromosome 20, 4699758: 4699758
13 PRNP NM_000311.4(PRNP): c.695T> G (p.Met232Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315409 GRCh37 Chromosome 20, 4680561: 4680561
14 PRNP NM_000311.4(PRNP): c.695T> G (p.Met232Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315409 GRCh38 Chromosome 20, 4699915: 4699915
15 PRNP NM_000311.4(PRNP): c.623G> A (p.Arg208His) single nucleotide variant Conflicting interpretations of pathogenicity rs74315412 GRCh37 Chromosome 20, 4680489: 4680489
16 PRNP NM_000311.4(PRNP): c.623G> A (p.Arg208His) single nucleotide variant Conflicting interpretations of pathogenicity rs74315412 GRCh38 Chromosome 20, 4699843: 4699843
17 PRNP NM_000311.4(PRNP): c.631G> C (p.Glu211Gln) single nucleotide variant Pathogenic rs398122370 GRCh37 Chromosome 20, 4680497: 4680497
18 PRNP NM_000311.4(PRNP): c.631G> C (p.Glu211Gln) single nucleotide variant Pathogenic rs398122370 GRCh38 Chromosome 20, 4699851: 4699851

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:

# Super pathways Score Top Affiliating Genes
1 11.7 APOE APP CST3 ENO2 MAPT PRNP
2 11.06 APP MAPT PRNP
3 10.79 APOE APP MAPT
4 10.37 APP S100B

GO Terms for Creutzfeldt-Jakob Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 APOE APP CST3 ENO2 PRNP RPSA
2 extracellular region GO:0005576 9.81 APOE APP CST3 MAPT MSMB PRND
3 perinuclear region of cytoplasm GO:0048471 9.8 APP EIF2AK2 S100B STMN2 TPPP3
4 anchored component of external side of plasma membrane GO:0031362 9.32 PRND PRNP
5 neuronal cell body GO:0043025 9.1 APOE ENO2 MAPT PVALB S100B STMN2
6 main axon GO:0044304 8.96 APP MAPT
7 cytoplasm GO:0005737 10.1 APOE APP EIF2AK2 ENO2 MAPT PLCXD3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of peptidase activity GO:0010466 9.72 APP CST3 SERPINA3
2 response to lead ion GO:0010288 9.57 APP MAPT
3 regulation of neuronal synaptic plasticity GO:0048168 9.56 APOE S100B
4 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.54 APP PRNP
5 microtubule polymerization GO:0046785 9.52 MAPT TPPP3
6 regulation of microtubule polymerization or depolymerization GO:0031110 9.51 MAPT STMN2
7 learning or memory GO:0007611 9.5 APP PRNP S100B
8 supramolecular fiber organization GO:0097435 9.49 CST3 MAPT
9 astrocyte activation GO:0048143 9.48 APP MAPT
10 negative regulation of amyloid-beta formation GO:1902430 9.46 APOE PRNP
11 neuron projection maintenance GO:1990535 9.43 APP PRNP
12 amyloid fibril formation GO:1990000 9.4 APP MAPT
13 modulation of age-related behavioral decline GO:0090647 9.37 APP PRNP
14 cellular response to nerve growth factor stimulus GO:1990090 9.33 APP MAPT STMN2
15 positive regulation of amyloid fibril formation GO:1905908 9.26 APOE APP
16 cellular copper ion homeostasis GO:0006878 9.13 APP PRND PRNP
17 negative regulation of long-term synaptic potentiation GO:1900272 8.8 APOE APP PRNP

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.56 APOE APP CST3 EIF2AK2 MAPT PRNP
2 peptidase inhibitor activity GO:0030414 9.54 APP CST3 SERPINA3
3 amyloid-beta binding GO:0001540 9.43 APOE CST3 PRNP
4 tau protein binding GO:0048156 9.32 APOE S100B
5 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
6 tubulin binding GO:0015631 8.92 MAPT PRNP STMN2 TPPP3

Sources for Creutzfeldt-Jakob Disease

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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74 UMLS
75 UMLS via Orphanet
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