MCID: PRN023
MIFTS: 51

Prion Disease

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Prion Disease

MalaCards integrated aliases for Prion Disease:

Name: Prion Disease 12 24 14
Prion Diseases 50 36 51 3 41 69
Spongiform Encephalopathy 12 72
Prion Disease Pathway 12 69
Human Transmissible Spongiform Encephalopathies, Inherited 69
Inherited Human Transmissible Spongiform Encephalopathies 24
Transmissible Spongiform Encephalopathies 24
Transmissible Spongiform Encephalopathy 12
Prion-Associated Disorders 24
Prion-Induced Disorders 24
Transmissible Dementias 24
Prion Induced Disorder 12
Prion Protein Diseases 24
Prion Protein Disease 12
Prion Protein 13
Tses 24

Classifications:



External Ids:

Disease Ontology 12 DOID:649
ICD10 32 A81.9
MeSH 41 D017096
NCIt 46 C27585
KEGG 36 H00061

Summaries for Prion Disease

NINDS : 50 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 gerstmann-straussler disease and fatal familial insomnia. An important gene associated with Prion Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Prion diseases and Neuroscience. The drugs Quinacrine and Coal tar 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 hematopoietic system

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 : 24 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 59)
# Related Disease Score Top Affiliating Genes
1 gerstmann-straussler disease 32.4 APP MSMB PRNP
2 fatal familial insomnia 32.4 MSMB PRNP
3 creutzfeldt-jakob disease 30.9 ENO2 MAPT MSMB PRND PRNP RPSA
4 chronic wasting disease 30.6 CR2 PRNP SPRN
5 aphasia 29.5 APP MAPT PRNP
6 alzheimer disease 29.3 ADAM10 APP IL1B MAP2 MAPT PRNP
7 amyotrophic lateral sclerosis 1 29.0 APP MAP2 MAPT PRNP
8 scrapie 28.0 ADAM10 APP ENO2 MAP2 MSMB PRND
9 genetic prion diseases 12.4
10 familial alzheimer-like prion disease 12.0
11 huntington disease-like 1 11.6
12 kuru 11.4
13 spongiform encephalopathy with neuropsychiatric features 11.1
14 variably protease-sensitive prionopathy 10.9
15 papillary tumor of the pineal region 10.4 ENO2 MAP2
16 haemophilus influenzae 10.3 IL1B TF
17 encephalopathy 10.3
18 chondroid chordoma 10.3 ENO2 MAP2
19 neuronitis 10.2
20 akinetic mutism 10.2 ENO2 MAPT PRNP
21 cerebral hemorrhage 10.2 APP IL1B PRNP
22 central neurocytoma 10.1 ENO2 MAP2
23 toxic encephalopathy 10.1 APP IL1B PRNP
24 familial idiopathic basal ganglia calcification 10.1 APP MAPT
25 kluver-bucy syndrome 10.1 APP MAPT
26 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 APP MAPT PRNP
27 aging 10.0
28 dementia 10.0
29 cerebral amyloid angiopathy, cst3-related 10.0 APP MAPT PRNP
30 vascular dementia 10.0 APP MAPT PRNP
31 dementia, lewy body 10.0 APP MAPT PRNP
32 cerebritis 9.9
33 neuropathy 9.9
34 nervous system disease 9.9 APP IL1B MAPT PRNP
35 hydrocephalus 9.8 APP ENO2 MAPT
36 central nervous system disease 9.8 APP IL1B MAPT PRNP
37 ataxia and polyneuropathy, adult-onset 9.8
38 tonsillitis 9.8
39 autonomic neuropathy 9.8
40 diarrhea 9.8
41 binswanger's disease 9.7 APP MAPT
42 huntington disease 9.6
43 pick disease of brain 9.6
44 retinal dysplasia, primary 9.6
45 frontotemporal dementia 9.6
46 aceruloplasminemia 9.6
47 ataxia-oculomotor apraxia 3 9.6
48 polyarteritis nodosa, childhood-onset 9.6
49 spinal cord injury 9.6
50 colitis 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 SPRN IL1B TF MAP2 MAPT ADAM10
2 hematopoietic system MP:0005397 9.96 SCN2A FPR2 IL1B TF MAPT ADAM10
3 immune system MP:0005387 9.81 FPR2 IL1B MAPT MSMB ADAM10 PRND
4 mortality/aging MP:0010768 9.73 SPRN IL1B TF MAP2 MAPT ADAM10
5 nervous system MP:0003631 9.32 SCN2A SPRN IL1B MAP2 MAPT ADAM10

Drugs & Therapeutics for Prion Disease

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

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

Interventional clinical trials:


# 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:

38
Brain, Cortex, Testes, Spleen, Tonsil, T Cells, Bone

Publications for Prion Disease

Articles related to Prion Disease:

(show top 50) (show all 657)
# Title Authors Year
1
MicroRNA-16 targets mRNA involved in neurite extension and branching in hippocampal neurons during presymptomatic prion disease. ( 29277556 )
2018
2
Efficient prion disease transmission through common environmental materials. ( 29330304 )
2018
3
Acute Neurotoxicity Models of Prion Disease. ( 29393619 )
2018
4
Prion disease: Skin is a source of infectious prions in sCJD. ( 29217825 )
2018
5
The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature. ( 29304167 )
2018
6
RT-QuIC Assays for Prion Disease Detection and Diagnostics. ( 28861791 )
2017
7
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
8
Real-Time Quaking-Induced Conversion for Diagnosis of Prion Disease. ( 28861798 )
2017
9
Prion disease: experimental models and reality. ( 28084518 )
2017
10
Norway seeks to stamp out prion disease. ( 28385963 )
2017
11
Effects of a naturally occurring amino acid substitution in bovine PrP: a model for inherited prion disease in a natural host species. ( 29262866 )
2017
12
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
13
Methods for Molecular Diagnosis of Human Prion Disease. ( 28861799 )
2017
14
Therapeutic effect of autologous compact bone-derived mesenchymal stem cell transplantation on prion disease. ( 28874230 )
2017
15
Treatment with a non-toxic, self-replicating anti-prion delays or prevents prion disease in vivo. ( 28630454 )
2017
16
Prion disease: 'Anti-prions' block prion disease onset. ( 28685760 )
2017
17
Prion disease: AI^ pathology in human growth hormone recipients. ( 28418021 )
2017
18
Prion disease pathogenesis in the absence of the commensal microbiota. ( 28708055 )
2017
19
Analysis of miRNA Signatures in Neurodegenerative Prion Disease. ( 28861783 )
2017
20
Correction: Fatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease. ( 28467504 )
2017
21
Disease-associated protein seeding suggests a dissociation between misfolded protein accumulation and neurodegeneration in prion disease. ( 29023184 )
2017
22
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. ( 27716661 )
2017
23
Correction: Increased Abundance of M Cells in the Gut Epithelium Dramatically Enhances Oral Prion Disease Susceptibility. ( 28212438 )
2017
24
Gastrostomy in patients with prion disease. ( 28509623 )
2017
25
Seeking a New Paradigm for Alzheimer's Disease: Considering the Roles of Inflammation, Blood-Brain Barrier Dysfunction, and Prion Disease. ( 29359063 )
2017
26
Genetic human prion disease modelled in PrP transgenic Drosophila. ( 28814578 )
2017
27
Evolution of Diagnostic Tests for Chronic Wasting Disease, a Naturally Occurring Prion Disease of Cervids. ( 28783058 )
2017
28
Age and Environment Influences on Mouse Prion Disease Progression: Behavioral Changes and Morphometry and Stereology of Hippocampal Astrocytes. ( 28243355 )
2017
29
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
30
Oral Prion Disease Pathogenesis Is Impeded in the Specific Absence of CXCR5-Expressing Dendritic Cells. ( 28275192 )
2017
31
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. ( 27943639 )
2017
32
Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study. ( 27942451 )
2017
33
Increases of Galectin-1 and its S-nitrosylated form in the Brain Tissues of Scrapie-Infected Rodent Models and Human Prion Diseases. ( 27211330 )
2016
34
Insights from Therapeutic Studies for PrP Prion Disease. ( 27836910 )
2016
35
Increased circulating microRNAs miR-342-3p and miR-21-5p in natural sheep prion disease. ( 27959774 )
2016
36
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
37
Effect of Polylysine on Scrapie Prion Protein Propagation in Spleen during Asymptomatic Stage of Experimental Prion Disease in Mice. ( 27221113 )
2016
38
The influence of commensal and pathogenic gut microbiota on prion disease pathogenesis. ( 27193137 )
2016
39
Structure-Based Drug Discovery for Prion Disease Using a Novel Binding Simulation. ( 27333028 )
2016
40
Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples. ( 27942718 )
2016
41
The stress of prion disease. ( 27060771 )
2016
42
Aggregation and Prion-Like Properties of Misfolded Tumor Suppressors: Is Cancer a Prion Disease? ( 27549118 )
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
Cannibalism, Kuru, and Mad Cows: Prion Disease As a "Choose-Your-Own-Experiment" Case Study to Simulate Scientific Inquiry in Large Lectures. ( 26788803 )
2016
45
New blood tests make strides in detecting prion disease. ( 28008016 )
2016
46
Mononucleated Blood Cell Populations Display Different Abilities To Transmit Prion Disease by the Transfusion Route. ( 26764000 )
2016
47
'PrP systemic deposition disease': clinical and pathological characteristics of novel familial prion disease with 2-bp deletion in codon 178. ( 26768678 )
2016
48
Protective V127 prion variant prevents prion disease by interrupting the formation of dimer and fibril from molecular dynamics simulations. ( 26906032 )
2016
49
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. ( 26864450 )
2016
50
Neil3 induced neurogenesis protects against prion disease during the clinical phase. ( 27886261 )
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:

36
# Name Kegg Source Accession
1 Prion diseases hsa05020

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

# Super pathways Score Top Affiliating Genes
1 11.97 APP ENO2 MAP2 MAPT PRNP SCN2A
2 11.79 IL1B MAP2 TF
3 10.99 ADAM10 APP MAPT
4 10.78 APP PRNP
5 10.68 ADAM10 APP
6 10.66 ADAM10 APP MAPT PRNP
7 10.37 MAP2 MAPT

GO Terms for Prion Disease

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.62 ENO2 MAP2 MAPT RPSA
2 anchored component of membrane GO:0031225 9.54 PRND PRNP SPRN
3 plasma membrane GO:0005886 9.4 ADAM10 APP CR2 ENO2 FPR2 LDLRAP1
4 nuclear periphery GO:0034399 9.26 MAP2 MAPT
5 axon GO:0030424 9.26 APP LDLRAP1 MAPT SCN2A
6 anchored component of external side of plasma membrane GO:0031362 9.16 PRND PRNP

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.73 APP FPR2 IL1B
2 neuron projection development GO:0031175 9.69 APP MAP2 MAPT
3 positive regulation of NF-kappaB import into nucleus GO:0042346 9.55 APP IL1B
4 regulation of protein binding GO:0043393 9.54 APP LDLRAP1
5 positive regulation of receptor-mediated endocytosis GO:0048260 9.52 LDLRAP1 TF
6 microglial cell activation GO:0001774 9.49 FPR2 MAPT
7 positive regulation of superoxide anion generation GO:0032930 9.48 FPR2 MAPT
8 complement receptor mediated signaling pathway GO:0002430 9.46 CR2 FPR2
9 regulation of microtubule polymerization GO:0031113 9.43 MAP2 MAPT
10 amyloid fibril formation GO:1990000 9.4 APP MAPT
11 negative regulation of long-term synaptic potentiation GO:1900272 9.37 APP PRNP
12 cellular response to amyloid-beta GO:1904646 9.33 APP FPR2 PRNP
13 modulation of age-related behavioral decline GO:0090647 9.32 APP PRNP
14 neuron projection maintenance GO:1990535 9.26 APP PRNP
15 cellular copper ion homeostasis GO:0006878 9.13 APP PRND PRNP
16 astrocyte activation GO:0048143 8.8 APP FPR2 MAPT

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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