MCID: PRN023
MIFTS: 46

Prion Disease

Categories: Neuronal diseases, Mental diseases

Aliases & Classifications for Prion Disease

MalaCards integrated aliases 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

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. Creutzfeldt-Jakob disease (CJD) is the most well-known of the human TSEs. It is a rare type of dementia that affects about one in every one million people each year. Other human TSEs include kuru, fatal familial insomnia (FFI), and Gerstmann-Straussler-Scheinker disease (GSS). Kuru was identified in people of an isolated tribe in Papua New Guinea and has now almost disappeared. FFI and GSS are extremely rare hereditary diseases, found in just a few families around the world. A new type of CJD, called variant CJD (vCJD), was first described in 1996 and has been found in Great Britain and several other European countries. The initial symptoms of vCJD are different from those of classic CJD and the disorder typically occurs in younger patients. Research suggests that vCJD may have resulted from human consumption of beef from cattle with a TSE disease called bovine spongiform encephalopathy (BSE), also known as "mad cow disease." Other TSEs found in animals include scrapie, which affects sheep and goats; chronic wasting disease, which affects elk and deer; and transmissible mink encephalopathy. In a few rare cases, TSEs have occurred in other mammals such as zoo animals. These cases are probably caused by contaminated feed. CJD and other TSEs also can be transmitted experimentally to mice and other animals in the laboratory. Research suggests that TSEs are caused by an abnormal version of a protein called a prion (prion is short forproteinaceous infectious particle). Prion proteins occur in both a normal form, which is a harmless protein found in the body's cells, and in an infectious form, which causes disease. The harmless and infectious forms of the prion protein are nearly identical, but the infectious form takes on a different folded shape from the normal protein. Human TSEs can occur three ways: sporadically; as hereditary diseases; or through transmission from infected individuals. Sporadic TSEs may develop because some of a person's normal prions spontaneously change into the infectious form of the protein and then alter the prions in other cells in a chain reaction. Inherited cases arise from a change, or mutation, in the prion protein gene that causes the prions to be shaped in an abnormal way. This genetic change may be transmitted to an individual's offspring. Transmission of TSEs from infected individuals is relatively rare. TSEs cannot be transmitted through the air or through touching or most other forms of casual contact. However, they may be transmitted through contact with infected tissue, body fluids, or contaminated medical instruments. Normal sterilization procedures such as boiling or irradiating materials do not prevent transmission of TSEs. Symptoms of TSEs vary, but they commonly include personality changes, psychiatric problems such as depression, lack of coordination, and/or an unsteady gait. Patients also may experience involuntary jerking movements called myoclonus, unusual sensations, insomnia, confusion, or memory problems. In the later stages of the disease, patients have severe mental impairment and lose the ability to move or speak.

MalaCards based summary : Prion Disease, also known as prion diseases, is related to huntington disease-like 1 and prion disease with protracted course. An important gene associated with Prion Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Prion diseases and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Coal tar and Quinacrine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and testes, and related phenotypes are growth/size/body region and behavior/neurological

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.

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.

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.

Wikipedia : 72 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 60)
id Related Disease Score Top Affiliating Genes
1 huntington disease-like 1 32.3 APP MSMB PRNP
2 prion disease with protracted course 30.8 ENO2 MAPT MSMB PRND PRNP RPSA
3 genetic prion diseases 12.3
4 familial alzheimer-like prion disease 11.8
5 creutzfeldt-jakob disease 11.4
6 kuru 11.2
7 gerstmann-straussler disease 11.1
8 insomnia, fatal familial 11.0
9 2q31.1 microdeletion syndrome 10.8 ENO2 MAP2
10 sclerotylosis 10.7
11 variably protease-sensitive prionopathy 10.7
12 secondary syphilis 10.5 ENO2 MAP2
13 cerebral ventricle cancer 10.5 CR2 PRNP SPRN
14 calcific tendinitis 10.4 ENO2 MAP2
15 early-onset zonular cataract 10.3 IL1B TF
16 penis basal cell carcinoma 10.3 ENO2 MAPT PRNP
17 cervical squamous cell carcinoma 10.2 APP IL1B PRNP
18 scrapie 10.2
19 encephalopathy 10.2
20 macrocephaly, alopecia, cutis laxa, and scoliosis 10.2 MSMB PRND PRNP
21 ovarian cystadenocarcinoma 10.2 APP IL1B PRNP
22 neuronitis 10.1
23 osteochondrodysplasia 10.1 ENO2 IL1B
24 intracranial structure hemangioma 10.1 APP MAPT
25 chronic wasting disease 10.1
26 pulmonary systemic sclerosis 10.0 APP MAPT
27 hyperekplexia, hereditary 1, autosomal dominant or recessive 10.0 APP MAPT PRNP
28 dementia 10.0
29 nosophobia 9.9 APP MAPT PRNP
30 parkinson disease 1 9.9 APP MAPT PRNP
31 bladder cancer, childhood 9.9 APP MAPT
32 cerebritis 9.9
33 neuropathy 9.9
34 mast syndrome 9.8 APP MAPT SOD2
35 ichthyosis lamellar 1 9.8 APP ENO2 MAPT
36 alzheimer disease 9.8
37 prostate carcinoma in situ 9.7 APP IL1B MAPT PRNP
38 hepatic angiomyolipoma 9.7 APP IL1B MAPT PRNP
39 tonsillitis 9.7
40 autonomic neuropathy 9.7
41 diarrhea 9.7
42 ataxia 9.7
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 growth/size/body region MP:0005378 10.06 SCN2A SOD2 SPRN TF ADAM10 APP
2 behavior/neurological MP:0005386 10.02 APP ENO2 MAP2 MAPT PRND PRNP
3 hematopoietic system MP:0005397 10 ADAM10 APP CR2 FPR2 IL1B MAPT
4 immune system MP:0005387 9.85 ADAM10 APP CR2 FPR2 IL1B MAPT
5 mortality/aging MP:0010768 9.77 ADAM10 APP CR2 FPR2 IL1B MAP2
6 nervous system MP:0003631 9.36 ADAM10 APP ENO2 IL1B MAP2 MAPT

Drugs & Therapeutics for Prion Disease

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

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 CJD (Creutzfeldt-Jakob Disease) Quinacrine Study Completed NCT00183092 Phase 2 Quinacrine;Placebo
2 Study of Ruxolitinib in the Treatment of Cachexia in Patients With Tumor-Associated Chronic Wasting Diseases. Active, not recruiting NCT02072057 Phase 2 Ruxolitinib
3 Notification of Donors With Positive Microbiology Markers Unknown status NCT01050881
4 PRION-1: Quinacrine for Human Prion Disease Completed NCT00104663 Quinacrine
5 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Recruiting NCT02837705
6 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
7 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
8 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, Tonsil, T Cells, Bone

Publications for Prion Disease

Articles related to Prion Disease:

(show top 50) (show all 649)
id Title Authors Year
1
Analysis of miRNA Signatures in Neurodegenerative Prion Disease. ( 28861783 )
2017
2
Treatment with a non-toxic, self-replicating anti-prion delays or prevents prion disease in vivo. ( 28630454 )
2017
3
Oral Prion Disease Pathogenesis Is Impeded in the Specific Absence of CXCR5-Expressing Dendritic Cells. ( 28275192 )
2017
4
Prion disease: 'Anti-prions' block prion disease onset. ( 28685760 )
2017
5
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. ( 27716661 )
2017
6
Norway seeks to stamp out prion disease. ( 28385963 )
2017
7
A multidisciplinary medical network approach is crucial for increasing the number of autopsies for prion disease [Reply to: How can we increase the numbers of autopsies for prion disease? A model system in Japan]. ( 28477717 )
2017
8
Prion disease: AI^ pathology in human growth hormone recipients. ( 28418021 )
2017
9
Correction: Increased Abundance of M Cells in the Gut Epithelium Dramatically Enhances Oral Prion Disease Susceptibility. ( 28212438 )
2017
10
Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study. ( 27942451 )
2017
11
RT-QuIC Assays for Prion Disease Detection and Diagnostics. ( 28861791 )
2017
12
Methods for Molecular Diagnosis of Human Prion Disease. ( 28861799 )
2017
13
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. ( 27943639 )
2017
14
Quick and sensitive SPR detection of prion disease-associated isoform (PrP(Sc)) based on its self-assembling behavior on bare gold film and specific interactions with aptamer-graphene oxide (AGO). ( 28570989 )
2017
15
Age and Environment Influences on Mouse Prion Disease Progression: Behavioral Changes and Morphometry and Stereology of Hippocampal Astrocytes. ( 28243355 )
2017
16
Therapeutic effect of autologous compact bone-derived mesenchymal stem cell transplantation on prion disease. ( 28874230 )
2017
17
Evolution of Diagnostic Tests for Chronic Wasting Disease, a Naturally Occurring Prion Disease of Cervids. ( 28783058 )
2017
18
Prion disease: experimental models and reality. ( 28084518 )
2017
19
Correction: Fatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease. ( 28467504 )
2017
20
Prion disease pathogenesis in the absence of the commensal microbiota. ( 28708055 )
2017
21
Gastrostomy in patients with prion disease. ( 28509623 )
2017
22
Real-Time Quaking-Induced Conversion for Diagnosis of Prion Disease. ( 28861798 )
2017
23
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
24
Genetic human prion disease modelled in PrP transgenic Drosophila. ( 28814578 )
2017
25
Insights from Therapeutic Studies for PrP Prion Disease. ( 27836910 )
2016
26
Increases of Galectin-1 and its S-nitrosylated form in the Brain Tissues of Scrapie-Infected Rodent Models and Human Prion Diseases. ( 27211330 )
2016
27
Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples. ( 27942718 )
2016
28
Protective V127 prion variant prevents prion disease by interrupting the formation of dimer and fibril from molecular dynamics simulations. ( 26906032 )
2016
29
Prion 2016 Animal Prion Disease Workshop Abstracts. ( 27088807 )
2016
30
Over-Expressed Pathogenic miRNAs in Alzheimer's Disease (AD) and Prion Disease (PrD) Drive Deficits in TREM2-Mediated AI^42 Peptide Clearance. ( 27378912 )
2016
31
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
32
Structure-Based Drug Discovery for Prion Disease Using a Novel Binding Simulation. ( 27333028 )
2016
33
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. ( 26864450 )
2016
34
New blood tests make strides in detecting prion disease. ( 28008016 )
2016
35
Increased circulating microRNAs miR-342-3p and miR-21-5p in natural sheep prion disease. ( 27959774 )
2016
36
The influence of commensal and pathogenic gut microbiota on prion disease pathogenesis. ( 27193137 )
2016
37
Effect of Polylysine on Scrapie Prion Protein Propagation in Spleen during Asymptomatic Stage of Experimental Prion Disease in Mice. ( 27221113 )
2016
38
Cannibalism, Kuru, and Mad Cows: Prion Disease As a "Choose-Your-Own-Experiment" Case Study to Simulate Scientific Inquiry in Large Lectures. ( 26788803 )
2016
39
The stress of prion disease. ( 27060771 )
2016
40
Neil3 induced neurogenesis protects against prion disease during the clinical phase. ( 27886261 )
2016
41
'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178. ( 26768678 )
2016
42
The history of prion disease. ( 27751551 )
2016
43
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
44
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
45
Chronic Progressive Neurodegeneration in a Transgenic Mouse Model of Prion Disease. ( 27891071 )
2016
46
Increased Abundance of M Cells in the Gut Epithelium Dramatically Enhances Oral Prion Disease Susceptibility. ( 27973593 )
2016
47
The real-time quaking-induced conversion assay for detection of human prion disease and study of other protein misfolding diseases. ( 27735933 )
2016
48
Mononucleated Blood Cell Populations Display Different Abilities To Transmit Prion Disease by the Transfusion Route. ( 26764000 )
2016
49
Aggregation and Prion-Like Properties of Misfolded Tumor Suppressors: Is Cancer a Prion Disease? ( 27549118 )
2016
50
Quantifying prion disease penetrance using large population control cohorts. ( 26791950 )
2016

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 11.79 IL1B MAP2 TF
2 11.61 APP ENO2 MAP2 MAPT PRNP SCN2A
3 10.99 ADAM10 APP MAPT
4 10.99 ADAM10 APP MAPT PRNP
5 10.78 APP PRNP
6 10.74 ADAM10 APP
7 10.37 MAP2 MAPT

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 plasma membrane GO:0005886 9.7 ADAM10 APP CR2 ENO2 FPR2 MAPT
2 vesicle GO:0031982 9.54 IL1B SPRN TF
3 anchored component of membrane GO:0031225 9.5 PRND PRNP SPRN
4 extracellular exosome GO:0070062 9.28 ADAM10 APP CR2 ENO2 IL1B PRNP
5 nuclear periphery GO:0034399 9.26 MAP2 MAPT
6 anchored component of external side of plasma membrane GO:0031362 8.85 PRNP

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 9.63 APP PRNP SOD2
2 neuron projection development GO:0031175 9.61 APP MAP2 MAPT
3 response to cadmium ion GO:0046686 9.49 PRNP SOD2
4 positive regulation of protein phosphorylation GO:0001934 9.48 APP IL1B
5 complement receptor mediated signaling pathway GO:0002430 9.37 CR2 FPR2
6 amyloid fibril formation GO:1990000 9.32 APP MAPT
7 positive regulation of superoxide anion generation GO:0032930 9.1 MAPT
8 astrocyte activation GO:0048143 8.96 MAPT
9 modulation of age-related behavioral decline GO:0090647 8.85 APP
10 cellular copper ion homeostasis GO:0006878 8.8 APP PRND PRNP
11 cellular response to beta-amyloid GO:1904646 8.65 APP

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

id Name GO ID Score Top Affiliating Genes
1 complement receptor activity GO:0004875 8.96 CR2 FPR2
2 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....