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 57 12 75 53 54 74 13 55 43 15 40 72 33
Variant Creutzfeldt-Jakob Disease 12 53 3 15 17
Cjd 57 12 53 74
Bovine Spongiform Encephalopathy 12 3 15
Jakob-Creutzfeldt Disease 12 29 6
Creutzfeldt-Jakob Disease, Familial 57 72
Encephalopathy, Bovine Spongiform 44 72
Creutzfeldt Jakob Disease 12 53
Creutzfeldt-Jacob Disease 12 53
Creutzfeldt Jacob Disease 53 17
Vcjd 53 3
Creutzfeldt-Jakob Disease, Variant, Resistance to 57
New Variant Creutzfeldt-Jakob Disease 72
Inherited Creutzfeldt-Jakob Disease 59
Creutzfeldt-Jakob Disease, Sporadic 72
Creutzfeldt-Jakob Disease, Variant 57
Subacute Spongiform Encephalopathy 12
Sporadic Creutzfeldt-Jakob Disease 59
Acquired Creutzfeldt-Jakob Disease 59
Familial Creutzfeldt-Jakob Disease 55
Variant Creutzfeldt-Jacob Disease 53
Encephalopathy Bovine Spongiform 55
Transmissible Virus Dementia 12
Creutzfeldt Jacob Syndrome 12
Creutzfeldt-Jakob Syndrome 44
New Variant of Cjd 53
Inherited Cjd 59
Sporadic Cjd 59
Acquired Cjd 72
Variant Cjd 53
Nv-Cjd 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:11949 DOID:5435
OMIM 57 123400
ICD9CM 35 046.1
NCIt 50 C26802
ICD10 33 A81.0 A81.00
MESH via Orphanet 45 D007562
ICD10 via Orphanet 34 A81.0
UMLS via Orphanet 73 C0022336
UMLS 72 C0022336 C0085209 C0376329 more

Summaries for Creutzfeldt-Jakob Disease

NINDS : 54 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 dementia and chronic wasting disease, 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 Racepinephrine and Formaldehyde have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are dementia and hyperintensity of cerebral white matter on mri

NIH Rare Diseases : 53 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 : 57 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 : 43 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 : 74 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 : 75 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 400)
# Related Disease Score Top Affiliating Genes
1 dementia 33.6 PRNP MAPT APP APOE
2 chronic wasting disease 33.6 SPRN PRNP
3 gerstmann-straussler disease 33.4 PRNP MSMB APP
4 akinetic mutism 32.6 PRNP MAPT ENO2
5 genetic prion diseases 32.6 PRNP APOE
6 prion disease 32.1 SPRN RPSA PRNP PRND MSMB MAPT
7 aphasia 31.9 PRNP MAPT APP APOE
8 supranuclear palsy, progressive, 1 31.7 MAPT APP APOE
9 leukoencephalopathy, hereditary diffuse, with spheroids 31.6 PRNP MAPT APP
10 persistent vegetative state 31.4 ENO2 APOE
11 frontotemporal dementia 31.4 PRNP MAPT APP APOE
12 binswanger's disease 31.3 MAPT APP APOE
13 dementia, lewy body 31.3 PRNP MAPT APP APOE
14 cerebrovascular disease 31.3 MAPT APP APOE
15 head injury 31.2 S100B ENO2 APOE
16 huntington disease-like 1 31.2 PRNP APOE
17 senile plaque formation 31.1 APP APOE
18 posterior cortical atrophy 31.1 MAPT APOE
19 hydrocephalus 31.1 MAPT ENO2 APP APOE
20 amyloidosis 31.1 CST3 APP APOE
21 pick disease of brain 31.1 MAPT APP APOE
22 vascular dementia 31.1 SERPINA3 MAPT CST3 APP APOE
23 inclusion body myositis 31.0 MAPT APP APOE
24 traumatic brain injury 31.0 S100B ENO2 APOE
25 scrapie 30.7 SPRN RPSA PRNP PRND MSMB ENO2
26 alzheimer disease 30.7 SERPINA3 S100B PRNP MAPT EIF2AK2 CST3
27 cerebral amyloid angiopathy, cst3-related 30.7 SERPINA3 PRNP MAPT CST3 APP APOE
28 kluver-bucy syndrome 30.6 MAPT APP
29 amyotrophic lateral sclerosis 1 30.5 PVALB PRNP MAPT EIF2AK2 CST3 APP
30 nervous system disease 30.4 S100B PRNP MAPT ENO2 APP APOE
31 myoclonus 12.0
32 kuru 12.0
33 familial creutzfeld-jakob disease 12.0
34 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.9
35 hydrocephalus, normal-pressure 11.8
36 cerebellar degeneration 11.8
37 encephalopathy 11.5
38 ataxia and polyneuropathy, adult-onset 11.2
39 mutism 11.1
40 fatal familial insomnia 11.0
41 aceruloplasminemia 10.9
42 rare surgical neurologic disease 10.9
43 status epilepticus 10.9
44 encephalitis 10.8
45 corticobasal degeneration 10.8
46 tremor 10.8
47 yemenite deaf-blind hypopigmentation syndrome 10.7
48 dystonia 10.7
49 cortical blindness 10.7
50 apraxia 10.7

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:

59 32 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dementia 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000726
2 hyperintensity of cerebral white matter on mri 59 32 hallmark (90%) Very frequent (99-80%) HP:0030890
3 neuronal loss in central nervous system 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0002529
4 cerebral cortex with spongiform changes 59 32 hallmark (90%) Very frequent (99-80%) HP:0006790
5 akinetic mutism 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0012672
6 emotional lability 59 32 frequent (33%) Frequent (79-30%) HP:0000712
7 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
8 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
9 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
10 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
11 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
12 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
13 myoclonus 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001336
14 slurred speech 59 32 frequent (33%) Frequent (79-30%) HP:0001350
15 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
16 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
17 gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002066
18 babinski sign 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0003487
19 stroke-like episode 59 32 frequent (33%) Frequent (79-30%) HP:0002401
20 confusion 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001289
21 recurrent aspiration pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0002100
22 visual hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0002367
23 hypsarrhythmia 59 32 frequent (33%) Frequent (79-30%) HP:0002521
24 recurrent infections 59 32 frequent (33%) Frequent (79-30%) HP:0002719
25 sepsis 59 32 frequent (33%) Frequent (79-30%) HP:0100806
26 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
27 insomnia 59 32 frequent (33%) Frequent (79-30%) HP:0100785
28 progressive cerebellar ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0002073
29 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
30 astrocytosis 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002446
31 central nervous system degeneration 59 32 frequent (33%) Frequent (79-30%) HP:0007009
32 respiratory failure requiring assisted ventilation 59 32 frequent (33%) Frequent (79-30%) HP:0004887
33 hypersomnia 59 32 frequent (33%) Frequent (79-30%) HP:0100786
34 cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002059
35 gliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002171
36 increased csf protein 59 32 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0002922
37 apathy 59 32 frequent (33%) Frequent (79-30%) HP:0000741
38 personality changes 59 32 frequent (33%) Frequent (79-30%) HP:0000751
39 supranuclear gaze palsy 59 32 frequent (33%) Frequent (79-30%) HP:0000605
40 spastic dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0002464
41 loss of facial expression 59 32 frequent (33%) Frequent (79-30%) HP:0005327
42 global brain atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002283
43 focal t2 hyperintense basal ganglia lesion 59 32 frequent (33%) Frequent (79-30%) HP:0007183
44 spastic hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0011099
45 short attention span 59 32 frequent (33%) Frequent (79-30%) HP:0000736
46 progressive extrapyramidal muscular rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0007158
47 poor visual behavior for age 59 32 frequent (33%) Frequent (79-30%) HP:0025152
48 diffuse spongiform leukoencephalopathy 59 32 frequent (33%) Frequent (79-30%) HP:0006943
49 progressive forgetfulness 59 32 frequent (33%) Frequent (79-30%) HP:0007017
50 eeg with persistent abnormal rhythmic activity 59 32 frequent (33%) Frequent (79-30%) HP:0010846

Symptoms via clinical synopsis from OMIM:

57
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:

46
# 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 45)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4 Pharmaceutical Solutions Phase 4
5 Epinephryl borate Phase 4
6 Vasoconstrictor Agents Phase 4
7
rituximab Approved Phase 2 174722-31-7 10201696
8
Coal tar Approved Phase 2 8007-45-2
9
Quinacrine Investigational Phase 2 83-89-6 237
10 Antineoplastic Agents, Immunological Phase 2
11 Antirheumatic Agents Phase 2
12 Anthelmintics Phase 2
13 Antiparasitic Agents Phase 2
14 Antiprotozoal Agents Phase 2
15 Antimalarials Phase 2
16 insulin Phase 1, Phase 2
17 Insulin, Globin Zinc Phase 1, Phase 2
18 Liver Extracts Phase 1, Phase 2
19 Anti-Infective Agents Phase 2
20 Immunologic Factors Phase 2
21 Gastrointestinal Agents Phase 2
22 Cathartics Phase 2
23 Carboxymethylcellulose Sodium Phase 2
24 Laxatives Phase 2
25 Poly I-C Phase 2
26 Poly ICLC Phase 2
27 interferons Phase 2
28 Interferon Inducers Phase 2
29 Antiviral Agents Phase 2
30
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
31
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
32
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
33
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
34
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
35 Anesthetics Phase 1
36 Prednisolone acetate Phase 1
37 Thymoglobulin Phase 1
38 Antilymphocyte Serum Phase 1
39 Methylprednisolone Acetate Phase 1
40 Cyclosporins Phase 1
41
Thrombin Approved, Investigational
42 Hematinics
43 Antibodies
44 Epoetin alfa 113427-24-0
45 Immunoglobulins

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 The Ambu® Laryngeal Mask as an Intubation Conduit For Patients Undergoing Routine General Anesthesia Completed NCT00272194 Phase 4
2 Coagulopathy During Surgery for the Repair of Extent 4 Thoraco-Abdominal Aortic Aneurysms - Feasibility Study of the Use of Fibrinogen Concentrate by Infusion in Place of Fresh Frozen Plasma. Completed NCT00994045 Phase 4
3 Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
4 Comparative Study of Two Corneal Graft Storage Media: New Animal Compound Free Medium Versus Reference Medium Completed NCT01694914 Phase 3
5 The Combined Efficacy of Evicel and Tranexamic Acid on Total Knee Arthroplasty During the Early Perioperative Period Withdrawn NCT02553122 Phase 3 Evicel
6 A Study to Assess the Safety, Efficacy and Tolerability of Rituximab (Mabthera) in Combination With Plasma Exchange (PEX) in Patients With Acute Thrombotic Thrombocytopenic Purpura (TTP) Unknown status NCT00937131 Phase 2 Rituximab
7 Randomised Placebo Controlled Trial of Faecal Microbiota Transplantation in Irritable Bowel Syndrome Unknown status NCT02423421 Phase 2
8 Novel Therapeutics For Prion Diseases: A Randomized, Double-blinded, Placebo-controlled Study of the Efficacy of Quinacrine in the Treatment of Sporadic Creutzfeldt-Jakob Disease Completed NCT00183092 Phase 2 Quinacrine;Placebo
9 Bovine Colostrum for Patients With Non Alcoholic Fatty Liver Disease Completed NCT01016418 Phase 1, Phase 2
10 A Phase II Trial of Poly-ICLC in the Management of Recurrent Pediatric Low Grade Gliomas Active, not recruiting NCT01188096 Phase 2 Poly ICLC
11 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
12 Assessment of the Impact of Notification of Blood Donors Testing Positive for Microbiology Markers: What is the Psychological Impact of Notification and Does the Method of Notification Influence the Outcome? Unknown status NCT01050881
13 PRION-1: Quinacrine for Human Prion Disease. A Partially Randomized Patient Preference Trial to Evaluate the Activity and Safety of Quinacrine in Human Prion Disease Completed NCT00104663 Quinacrine
14 A Prospective, Immunogenicity Surveillance Registry (PRIMS) to Estimate the Incidence of Erythropoietin Antibody-Mediated Pure Red Cell Aplasia Among Subjects With Chronic Renal Failure and Subcutaneous Exposure to Recombinant Erythropoietin Products Completed NCT00391287
15 CardioCel Tri-leaflet Repair Study; a Prospective, Non-randomised, Single Arm, Multi-centre Clinical Investigation Completed NCT02629328
16 Vascular Post Market Review Completed NCT02681341
17 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
18 Comparison of the Self-invented Intracavitary ECG Wire With the Commercial System - Certodyn® Recruiting NCT03697291
19 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
20 The Role of the Coagulation Pathway at the Synapse in Prion Diseases Not yet recruiting NCT02480725
21 Efficacy and Safety of Fecal Microbiota Transplantation for Severe Clostridium Difficile Associated Colitis Terminated NCT01959048 fecal microbiota transplantation

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 29 HLA-DQB1 PRNP

Anatomical Context for Creutzfeldt-Jakob Disease

MalaCards organs/tissues related to Creutzfeldt-Jakob Disease:

41
Brain, Testes, Cortex, Spinal Cord, Pituitary, Cerebellum, Eye

Publications for Creutzfeldt-Jakob Disease

Articles related to Creutzfeldt-Jakob Disease:

(show top 50) (show all 5788)
# Title Authors PMID Year
1
Ascertainment bias causes false signal of anticipation in genetic prion disease. 38 8 71
25279981 2014
2
Mutant prion protein expression causes motor and memory deficits and abnormal sleep patterns in a transgenic mouse model. 38 8 71
19038218 2008
3
Familial Creutzfeldt-Jakob disease. Codon 200 prion disease in Libyan Jews. 38 8 71
9279329 1997
4
Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. 38 8 71
1975028 1990
5
An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease. 38 8 71
2159587 1990
6
Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome. 38 8 71
2572450 1989
7
Insertion in prion protein gene in familial Creutzfeldt-Jakob disease. 38 8 71
2563037 1989
8
Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families. 8 71
1684755 1991
9
Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques. 9 38 71
16533975 2006
10
Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. 9 38 71
15753435 2005
11
Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene. 9 38 71
14610142 2003
12
Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease. 9 38 71
10526198 1999
13
Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. 9 38 71
8909447 1996
14
Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation. 9 38 71
8618678 1996
15
Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. 9 38 71
8750875 1995
16
The risk of developing Creutzfeldt-Jakob disease in subjects with the PRNP gene codon 200 point mutation. 9 38 71
7936296 1994
17
Molecular genetic studies of Creutzfeldt-Jakob disease. 9 38 71
7999318 1994
18
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. 9 38 71
8461023 1993
19
Familial Creutzfeldt-Jakob disease in Chile is associated with the codon 200 mutation of the PRNP amyloid precursor gene on chromosome 20. 9 38 71
1469441 1992
20
Transmission of spongiform encephalopathy from a familial Creutzfeldt-Jakob disease patient of Jewish Libyan origin carrying the PRNP codon 200 mutation. 9 38 71
1351274 1992
21
Creutzfeldt-Jakob disease cosegregates with the codon 178Asn PRNP mutation in families of European origin. 9 38 71
1353341 1992
22
Phenotypic characteristics of familial Creutzfeldt-Jakob disease associated with the codon 178Asn PRNP mutation. 9 38 71
1353342 1992
23
Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene. 9 38 71
1736177 1992
24
Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. 9 38 71
1683708 1991
25
Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders. 38 71
22965875 2012
26
Prion propagation and toxicity in vivo occur in two distinct mechanistic phases. 38 8
21350487 2011
27
Thalamo-striatal diffusion reductions precede disease onset in prion mutation carriers. 38 8
19321460 2009
28
Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. 38 8
19773352 2009
29
Variant Creutzfeldt-Jakob disease in France and the United Kingdom: Evidence for the same agent strain. 38 8
19334063 2009
30
Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease. 38 8
18805828 2008
31
Novel prion protein conformation and glycotype in Creutzfeldt-Jakob disease. 38 8
17420324 2007
32
MRI and EEG findings in Heidenhain variant of Creutzfeldt-Jakob disease. 38 8
16864833 2006
33
Dissociation of pathological and molecular phenotype of variant Creutzfeldt-Jakob disease in transgenic human prion protein 129 heterozygous mice. 38 8
16809423 2006
34
Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type. 38 8
16221949 2005
35
Phenotypic variability in familial prion diseases due to the D178N mutation. 38 71
16227536 2005
36
Isolated visual symptoms at onset in sporadic Creutzfeldt-Jakob disease: the clinical phenotype of the "Heidenhain variant". 38 8
16170128 2005
37
Interleukin 4 and interleukin 10 levels are elevated in the cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. 38 8
16216944 2005
38
Cerebral gene expression profiles in sporadic Creutzfeldt-Jakob disease. 38 8
16049922 2005
39
Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP. 38 71
15557533 2004
40
Identification of a second bovine amyloidotic spongiform encephalopathy: molecular similarities with sporadic Creutzfeldt-Jakob disease. 38 8
14970340 2004
41
Clinical features of Creutzfeldt-Jakob disease with V180I mutation. 38 71
14872044 2004
42
The sympathetic nervous system is involved in variant Creutzfeldt-Jakob disease. 38 8
12937415 2003
43
Molecular classification of sporadic Creutzfeldt-Jakob disease. 38 8
12764055 2003
44
Genetic Prion Diseases 38 71
20301407 2003
45
Creutzfeldt-Jakob disease. 38 8
12594311 2003
46
Detection of pathologic prion protein in the olfactory epithelium in sporadic Creutzfeldt-Jakob disease. 38 8
12594315 2003
47
Prion protein accumulation in eyes of patients with sporadic and variant Creutzfeldt-Jakob disease. 38 8
12506094 2003
48
A patient with dementia with Lewy bodies and codon 232 mutation of PRNP. 38 71
12451207 2002
49
Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease. 38 71
11839833 2002
50
A novel erythroid-specific marker of transmissible spongiform encephalopathies. 38 8
11231637 2001

Variations for Creutzfeldt-Jakob Disease

ClinVar genetic disease variations for Creutzfeldt-Jakob Disease:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRNP NM_000311.5(PRNP): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs28933385 20:4680464-4680464 20:4699818-4699818
2 PRNP NM_000311.5(PRNP): c.532G> A (p.Asp178Asn) single nucleotide variant Pathogenic rs74315403 20:4680398-4680398 20:4699752-4699752
3 PRNP NM_000311.5(PRNP): c.628G> A (p.Val210Ile) single nucleotide variant Pathogenic rs74315407 20:4680494-4680494 20:4699848-4699848
4 PRNP NM_000311.4(PRNP) NT expansion Pathogenic rs193922906 20:4680026-4680049 20:4699380-4699403
5 PRNP NM_000311.5(PRNP): c.631G> C (p.Glu211Gln) single nucleotide variant Pathogenic rs398122370 20:4680497-4680497 20:4699851-4699851
6 PRNP NM_000311.5(PRNP): c.538G> A (p.Val180Ile) single nucleotide variant Pathogenic/Likely pathogenic rs74315408 20:4680404-4680404 20:4699758-4699758
7 PRNP NM_000311.5(PRNP): c.695T> G (p.Met232Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs74315409 20:4680561-4680561 20:4699915-4699915
8 PRNP NM_000311.5(PRNP): c.623G> A (p.Arg208His) single nucleotide variant Conflicting interpretations of pathogenicity rs74315412 20:4680489-4680489 20:4699843-4699843
9 PRNP NM_000311.5(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 20:4680251-4680251 20:4699605-4699605

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

74
# 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

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 S100B PRNP MAPT ENO2 CST3 APP
2 11.06 PRNP MAPT APP
3 10.79 MAPT APP APOE
4 10.37 S100B APP

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 YWHAG SERPINA3 RPSA PRNP ENO2 CST3
2 extracellular region GO:0005576 9.81 SPRN SERPINA3 S100B PRND MSMB MAPT
3 perinuclear region of cytoplasm GO:0048471 9.8 TPPP3 STMN2 S100B EIF2AK2 APP
4 anchored component of external side of plasma membrane GO:0031362 9.32 PRNP PRND
5 neuronal cell body GO:0043025 9.1 STMN2 S100B PVALB MAPT ENO2 APOE
6 main axon GO:0044304 8.96 MAPT APP
7 cytoplasm GO:0005737 10.1 YWHAG TPPP3 STMN2 S100B RPSA RARB

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 9.73 SERPINA3 CST3 APP
2 response to lead ion GO:0010288 9.57 MAPT APP
3 regulation of neuronal synaptic plasticity GO:0048168 9.55 S100B APOE
4 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.54 PRNP APP
5 supramolecular fiber organization GO:0097435 9.52 MAPT CST3
6 regulation of microtubule polymerization or depolymerization GO:0031110 9.51 STMN2 MAPT
7 learning or memory GO:0007611 9.5 S100B PRNP APP
8 microtubule polymerization GO:0046785 9.49 TPPP3 MAPT
9 neuron projection maintenance GO:1990535 9.48 PRNP APP
10 negative regulation of amyloid-beta formation GO:1902430 9.46 PRNP APOE
11 astrocyte activation GO:0048143 9.43 MAPT APP
12 amyloid fibril formation GO:1990000 9.4 MAPT APP
13 modulation of age-related behavioral decline GO:0090647 9.37 PRNP APP
14 cellular response to nerve growth factor stimulus GO:1990090 9.33 STMN2 MAPT APP
15 positive regulation of amyloid fibril formation GO:1905908 9.26 APP APOE
16 cellular copper ion homeostasis GO:0006878 9.13 PRNP PRND APP
17 negative regulation of long-term synaptic potentiation GO:1900272 8.8 PRNP APP APOE

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 YWHAG S100B PRNP MAPT EIF2AK2 CST3
2 peptidase inhibitor activity GO:0030414 9.54 SERPINA3 CST3 APP
3 amyloid-beta binding GO:0001540 9.43 PRNP CST3 APOE
4 tau protein binding GO:0048156 9.32 S100B APOE
5 lipoprotein particle binding GO:0071813 9.16 MAPT APOE
6 tubulin binding GO:0015631 8.92 TPPP3 STMN2 PRNP MAPT

Sources for Creutzfeldt-Jakob Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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