TSES
MCID: PRN023
MIFTS: 48

Prion Disease (TSES) malady

Categories: Neuronal diseases, Mental diseases

Aliases & Classifications for Prion Disease

Aliases & Descriptions for Prion Disease:

Name: Prion Disease 12 25 14
Prion Diseases 51 52 3 42 69
Prion Disease Pathway 12 69
Human Transmissible Spongiform Encephalopathies, Inherited 69
Inherited Human Transmissible Spongiform Encephalopathies 25
Transmissible Spongiform Encephalopathies 25
Transmissible Spongiform Encephalopathy 12
Prion-Associated Disorders 25
Spongiform Encephalopathy 12
Prion-Induced Disorders 25
Transmissible Dementias 25
Prion Induced Disorder 12
Prion Protein Diseases 25
Prion Protein Disease 12
Prion Protein 13
Tses 25

Classifications:



External Ids:

Disease Ontology 12 DOID:649
ICD10 33 A81.9
MeSH 42 D017096
NCIt 47 C27585
UMLS 69 C0162534

Summaries for Prion Disease

Genetics Home Reference : 25 Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.

MalaCards based summary : Prion Disease, also known as prion diseases, is related to prion disease with protracted course and huntington disease-like 1. An important gene associated with Prion Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Prion diseases and Neuroscience. The drugs Antigen-Antibody Complex and Coal tar have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and testes, and related phenotypes are hematopoietic system and growth/size/body region

Disease Ontology : 12 A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins.

CDC : 3 Prion diseases or transmissible spongiform encephalopathies (TSEs) are a family of rare progressive neurodegenerative disorders that affect both humans and animals. They are distinguished by long incubation periods, characteristic spongiform changes associated with neuronal loss, and a failure to induce inflammatory response.

NINDS : 51 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

Wikipedia : 71 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of... more...

Related Diseases for Prion Disease

Diseases related to Prion Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 prion disease with protracted course 32.1 MAPT MSMB PRND PRNP RPSA SPRN
2 huntington disease-like 1 31.3 APP MSMB PRNP
3 genetic prion diseases 12.3
4 familial alzheimer-like prion disease 11.8
5 creutzfeldt-jakob disease 11.4
6 gerstmann-straussler disease 11.1
7 kuru 11.1
8 insomnia, fatal familial 11.0
9 huriez syndrome 10.7
10 variably protease-sensitive prionopathy 10.7
11 scrapie 10.2
12 charcot-marie-tooth disease 10.2 APP IL1B PRNP
13 encephalopathy 10.2
14 adult choroid plexus cancer 10.2 CR2 PRNP SPRN
15 scrotum basal cell carcinoma 10.2 MAPT PRNP
16 ovarian mucinous adenocarcinoma 10.2 IL1B MAP2 PRNP
17 amelogenesis imperfecta, type iia3 10.2 ADAM10 APP
18 neuronitis 10.1
19 cervix disease 10.1 IL1B MAP2 MAPT
20 contagious pustular dermatitis 10.1 APP MAPT PRNP
21 deafness, autosomal recessive 101 10.1 MAPT PRNP
22 coenzyme q10 deficiency, primary, 1 10.1 APP MAPT PRNP
23 fancf-related fanconi anemia 10.1 MSMB PRND PRNP
24 alagille syndrome 10.1 MSMB PRND PRNP
25 chronic wasting disease 10.0
26 hypoproteinemia, hypercatabolic 10.0 APP MAPT SOD2
27 substance-induced psychosis 10.0 APP IL1B MAPT PRNP
28 epithelioid type angiomyolipoma 10.0 APP IL1B MAPT PRNP
29 tmem216-related meckel syndrome 10.0 TF TFRC
30 poems syndrome 10.0 TF TFRC
31 cat-scratch disease 10.0 CAT TF TFRC
32 dementia 10.0
33 cerebritis 9.9
34 neuropathy 9.9
35 alzheimer disease 9.8
36 neuronal ceroid-lipofuscinoses 9.7 CAT TF TFRC
37 tonsillitis 9.7
38 autonomic neuropathy 9.7
39 diarrhea 9.7
40 ataxia 9.7
41 long qt syndrome 5 9.7 APP MAP2 MAPT PRNP SOD2 TFRC
42 spondyloarthropathy 1 9.7 ADAM10 APP CAT IL1B MAP2 MAPT
43 cerebellar ataxia 9.6
44 huntington disease 9.6
45 spinal cord injury 9.6
46 colitis 9.6
47 myiasis 9.6
48 lateral sclerosis 9.6
49 retinitis 9.6
50 myopathy 9.6

Graphical network of the top 20 diseases related to Prion Disease:



Diseases related to Prion Disease

Symptoms & Phenotypes for Prion Disease

MGI Mouse Phenotypes related to Prion Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.11 ADAM10 APP CR2 FPR2 IL1B MAPT
2 growth/size/body region MP:0005378 10.1 ADAM10 APP MAP2 MAPT PRNP RPSA
3 cellular MP:0005384 10.09 ADAM10 APP CAT FPR2 MAPT PRND
4 homeostasis/metabolism MP:0005376 10.06 ADAM10 APP CAT CR2 FPR2 IL1B
5 immune system MP:0005387 10 CR2 FPR2 IL1B MAPT MSMB PRND
6 mortality/aging MP:0010768 10 ADAM10 APP CAT CR2 FPR2 IL1B
7 neoplasm MP:0002006 9.43 CAT FPR2 IL1B MAPT MSMB SOD2
8 nervous system MP:0003631 9.32 ADAM10 APP IL1B MAP2 MAPT PRND

Drugs & Therapeutics for Prion Disease

Drugs for Prion Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antigen-Antibody Complex Phase 4,Phase 2
2
Coal tar Approved Phase 2 8007-45-2
3
Quinacrine Approved Phase 2 83-89-6 237
4 Anthelmintics Phase 2
5 Anti-Infective Agents Phase 2
6 Antimalarials Phase 2
7 Antiparasitic Agents Phase 2
8 Antiprotozoal Agents Phase 2
9 Pharmaceutical Solutions Phase 2
10 Antibodies
11 Immunoglobulins
12 Coagulants
13 Hemostatics
14 Thrombin

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Vasculopathic Injury and Plasma as Endothelial Rescue - OCTAplas Trial (EudraCT no. 2014-000452-28) Completed NCT02253082 Phase 4
2 Safety and Efficacy Study to Compare Uniplas With Cryosupernatant Plasma in Thrombotic Thrombocytopenic Purpura (TTP) Terminated NCT00411801 Phase 3
3 CJD (Creutzfeldt-Jakob Disease) Quinacrine Study Completed NCT00183092 Phase 2
4 Vasculopathic Injury and Plasma as Endothelial Rescue in Septic Shock (SHOCK) Trial Recruiting NCT03092245 Phase 2
5 Study of Ruxolitinib in the Treatment of Cachexia in Patients With Tumor-Associated Chronic Wasting Diseases. Active, not recruiting NCT02072057 Phase 2
6 Notification of Donors With Positive Microbiology Markers Unknown status NCT01050881
7 PRION-1: Quinacrine for Human Prion Disease Completed NCT00104663
8 The Molecular Biology of Paroxysmal Nocturnal Hemoglobinuria (PNH) Completed NCT00721864
9 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Recruiting NCT02837705
10 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
11 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
12 The Role of the Coagulation Pathway at the Synapse in Prion Diseases Not yet recruiting NCT02480725

Search NIH Clinical Center for Prion Disease

Cochrane evidence based reviews: prion diseases

Genetic Tests for Prion Disease

Anatomical Context for Prion Disease

MalaCards organs/tissues related to Prion Disease:

39
Brain, Cortex, Testes, Spleen, T Cells, Bone, Tonsil

Publications for Prion Disease

Articles related to Prion Disease:

(show top 50) (show all 631)
id Title Authors Year
1
Correction: Fatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease. ( 28467504 )
2017
2
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. ( 27716661 )
2017
3
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. ( 27943639 )
2017
4
Superficial bedside brain biopsy can be a safe and practical approach to confirm a rare form of prion disease in cerebellar ataxia: A case study. ( 28320192 )
2017
5
Prion disease: experimental models and reality. ( 28084518 )
2017
6
Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study. ( 27942451 )
2017
7
Increases of Galectin-1 and its S-nitrosylated form in the Brain Tissues of Scrapie-Infected Rodent Models and Human Prion Diseases. ( 27211330 )
2016
8
Mononucleated Blood Cell Populations Display Different Abilities To Transmit Prion Disease by the Transfusion Route. ( 26764000 )
2016
9
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. ( 26864450 )
2016
10
Cannibalism, Kuru, and Mad Cows: Prion Disease As a "Choose-Your-Own-Experiment" Case Study to Simulate Scientific Inquiry in Large Lectures. ( 26788803 )
2016
11
C-Terminal-Deleted Prion Protein Fragment Is a Major Accumulated Component of Systemic PrP Deposits in Hereditary Prion Disease With a 2-Bp (CT) Deletion in PRNP Codon 178. ( 27634965 )
2016
12
Insights from Therapeutic Studies for PrP Prion Disease. ( 27836910 )
2016
13
Structure-Based Drug Discovery for Prion Disease Using a Novel Binding Simulation. ( 27333028 )
2016
14
Protective V127 prion variant prevents prion disease by interrupting the formation of dimer and fibril from molecular dynamics simulations. ( 26906032 )
2016
15
The history of prion disease. ( 27751551 )
2016
16
Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples. ( 27942718 )
2016
17
Correction: Cannibalism, Kuru, and Mad Cows: Prion Disease As a "Choose-Your-Own-Experiment" Case Study to Simulate Scientific Inquiry in Large Lectures. ( 26991940 )
2016
18
Prion 2016 Animal Prion Disease Workshop Abstracts. ( 27088807 )
2016
19
The real-time quaking-induced conversion assay for detection of human prion disease and study of other protein misfolding diseases. ( 27735933 )
2016
20
Aggregation and Prion-Like Properties of Misfolded Tumor Suppressors: Is Cancer a Prion Disease? ( 27549118 )
2016
21
The influence of commensal and pathogenic gut microbiota on prion disease pathogenesis. ( 27193137 )
2016
22
Effect of Polylysine on Scrapie Prion Protein Propagation in Spleen during Asymptomatic Stage of Experimental Prion Disease in Mice. ( 27221113 )
2016
23
'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178. ( 26768678 )
2016
24
The stress of prion disease. ( 27060771 )
2016
25
Positive 14-3-3 and tau proteins in a sporadic Creutzfeldt-Jakob disease case and a brief perspective of prion diseases in Colombia. ( 27622622 )
2016
26
Increased Abundance of M Cells in the Gut Epithelium Dramatically Enhances Oral Prion Disease Susceptibility. ( 27973593 )
2016
27
New blood tests make strides in detecting prion disease. ( 28008016 )
2016
28
Over-Expressed Pathogenic miRNAs in Alzheimer's Disease (AD) and Prion Disease (PrD) Drive Deficits in TREM2-Mediated AI^42 Peptide Clearance. ( 27378912 )
2016
29
MicroRNA abundance is altered in synaptoneurosomes during prion disease. ( 26658803 )
2016
30
Increased circulating microRNAs miR-342-3p and miR-21-5p in natural sheep prion disease. ( 27959774 )
2016
31
Chronic Progressive Neurodegeneration in a Transgenic Mouse Model of Prion Disease. ( 27891071 )
2016
32
Quantifying prion disease penetrance using large population control cohorts. ( 26791950 )
2016
33
Neil3 induced neurogenesis protects against prion disease during the clinical phase. ( 27886261 )
2016
34
Clinically Unsuspected Prion Disease Among Patients With Dementia Diagnoses in an Alzheimer's Disease Database. ( 26320231 )
2015
35
Genome-wide association study of behavioural and psychiatric features in human prion disease. ( 25897833 )
2015
36
Proteinase-activated receptor 2 and disease biomarkers in cerebrospinal fluid in cases with autopsy-confirmed prion diseases and other neurodegenerative diseases. ( 25886404 )
2015
37
Preclinical detection of infectivity and disease-specific PrP in blood throughout the incubation period of prion disease. ( 26631638 )
2015
38
Shedding light on prion disease. ( 26186508 )
2015
39
Inherited mtDNA variations are not strong risk factors in human prion disease. ( 26239179 )
2015
40
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. ( 26193641 )
2015
41
Methylphenidate prolongs symptom-free period of experimental prion disease in mice. ( 25748967 )
2015
42
Genetics of Prion Disease in Cattle. ( 26462233 )
2015
43
The Good, the Bad, and the Ugly of Dendritic Cells during Prion Disease. ( 26697507 )
2015
44
The cognitive profile of prion disease: a prospective clinical and imaging study. ( 26000326 )
2015
45
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. ( 26488179 )
2015
46
Parkinson's disease and prion disease: Straining the comparison. ( 26769458 )
2015
47
Expanding the prion disease repertoire. ( 26330608 )
2015
48
Mutation protected mice in study against prion disease. ( 26390525 )
2015
49
TDP-43 in amyotrophic lateral sclerosis - is it a prion disease? ( 25846565 )
2015
50
Downregulation of I^-Soluble N-Ethylmaleimide-Sensitive Factor Attachment Protein: Proteomics-Based Identification in Early-Stage Prion Disease. ( 26022183 )
2015

Variations for Prion Disease

Expression for Prion Disease

Search GEO for disease gene expression data for Prion Disease.

Pathways for Prion Disease

Pathways related to Prion Disease according to KEGG:

37
id Name Kegg Source Accession
1 Prion diseases hsa05020

Pathways related to Prion Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 12.22 APP MAP2 MAPT PRNP
2 11.53 CR2 IL1B TFRC
3 10.99 ADAM10 APP MAPT
4 10.87 ADAM10 APP
5 10.85 APP PRNP
6 10.73 PRNP TF TFRC
7 10.66 ADAM10 APP MAPT PRNP
8 10.44 MAP2 MAPT
9 10.34 TF TFRC

GO Terms for Prion Disease

Cellular components related to Prion Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.87 ADAM10 APP CAT IL1B MSMB TF
2 cell surface GO:0009986 9.65 ADAM10 APP PRNP TF TFRC
3 anchored component of membrane GO:0031225 9.63 PRND PRNP SPRN
4 nuclear periphery GO:0034399 9.43 MAP2 MAPT
5 extracellular exosome GO:0070062 9.32 ADAM10 APP CAT CR2 IL1B PRNP
6 HFE-transferrin receptor complex GO:1990712 9.16 TF TFRC
7 clathrin-coated pit GO:0005905 9.13 APP TF TFRC
8 plasma membrane GO:0005886 10.11 ADAM10 APP CAT CR2 FPR2 MAPT
9 extracellular region GO:0005576 10.01 APP CAT IL1B MSMB PRND SPRN

Biological processes related to Prion Disease according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.67 APP MAP2 MAPT
2 viral entry into host cell GO:0046718 9.58 CR2 RPSA TFRC
3 positive regulation of neuron death GO:1901216 9.51 MAPT PRNP
4 cellular response to drug GO:0035690 9.5 IL1B PRNP TFRC
5 response to hyperoxia GO:0055093 9.48 CAT SOD2
6 response to lead ion GO:0010288 9.46 APP CAT
7 response to oxidative stress GO:0006979 9.46 APP CAT PRNP SOD2
8 complement receptor mediated signaling pathway GO:0002430 9.43 CR2 FPR2
9 amyloid fibril formation GO:1990000 9.37 APP MAPT
10 response to L-ascorbic acid GO:0033591 9.26 CAT SOD2
11 response to cadmium ion GO:0046686 9.13 CAT PRNP SOD2
12 cellular copper ion homeostasis GO:0006878 8.8 APP PRND PRNP

Molecular functions related to Prion Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.77 APP MAPT PRNP SOD2 TFRC
2 protein homodimerization activity GO:0042803 9.72 ADAM10 CAT CR2 MAPT TFRC
3 enzyme binding GO:0019899 9.56 APP CAT MAPT SOD2
4 complement receptor activity GO:0004875 9.16 CR2 FPR2
5 virus receptor activity GO:0001618 9.13 CR2 RPSA TFRC
6 tubulin binding GO:0015631 8.8 MAP2 MAPT PRNP

Sources for Prion 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
Content
Loading form....