TSES
MCID: PRN023
MIFTS: 54

Prion Disease (TSES)

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

Aliases & Classifications for Prion Disease

MalaCards integrated aliases for Prion Disease:

Name: Prion Disease 12 25 37 15 40
Prion Diseases 54 55 3 44 73
Spongiform Encephalopathy 12 76
Prion Disease Pathway 12 73
Human Transmissible Spongiform Encephalopathies, Inherited 73
Inherited Human Transmissible Spongiform Encephalopathies 25
Transmissible Spongiform Encephalopathies 25
Transmissible Spongiform Encephalopathy 12
Prion Disease, Susceptibility to 6
Prion-Associated Disorders 25
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 44 D017096
NCIt 50 C128346
SNOMED-CT 68 20484008
KEGG 37 H00061

Summaries for Prion Disease

NINDS : 54 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 fatal familial insomnia and gerstmann-straussler disease. An important gene associated with Prion Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Prion diseases and Neuroscience. 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 : 76 Transmissible spongiform encephalopathies (TSEs) are a group of progressive, invariably fatal,... 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 152)
# Related Disease Score Top Affiliating Genes
1 fatal familial insomnia 32.6 MSMB PRNP
2 gerstmann-straussler disease 32.6 APP MSMB PRNP
3 creutzfeldt-jakob disease 31.5 ENO2 MAPT MSMB PRND PRNP RPSA
4 chronic wasting disease 30.7 CR2 PRNP SPRN
5 alzheimer disease 30.0 ADAM10 APP IL1B MAP2 MAPT PRNP
6 cerebral hemorrhage 29.9 APP IL1B
7 ischemia 29.7 APP MAP2 SOD2
8 cerebral amyloid angiopathy, cst3-related 29.7 APP MAPT PRNP
9 aphasia 29.6 APP MAPT PRNP
10 frontotemporal dementia 29.6 APP MAPT PRNP
11 scrapie 29.4 ADAM10 APP ENO2 MAP2 MSMB PRND
12 amyotrophic lateral sclerosis 1 29.3 APP MAP2 MAPT PRNP SOD2
13 genetic prion diseases 12.4
14 familial alzheimer-like prion disease 12.1
15 huntington disease-like 1 11.8
16 kuru 11.5
17 gerstmann syndrome 11.3
18 prp systemic amyloidosis 11.3
19 spongiform encephalopathy with neuropsychiatric features 11.2
20 barber-say syndrome 11.2
21 variably protease-sensitive prionopathy 11.0
22 nasopharyngeal carcinoma 2 11.0
23 nasopharyngeal carcinoma 11.0
24 ciliary dyskinesia, primary, 26 11.0
25 ciliary dyskinesia, primary, 27 11.0
26 encephalopathy 10.6
27 neuroblastoma 10.3
28 dementia 10.2
29 papillary tumor of the pineal region 10.2 ENO2 MAP2
30 cerebellum cancer 10.2 ENO2 MAP2
31 autoimmune disease 10.2
32 rabies 10.2
33 pityriasis rubra pilaris 10.2
34 haemophilus influenzae 10.2 IL1B TF
35 myositis 10.2
36 central neurocytoma 10.2 ENO2 MAP2
37 chondroid chordoma 10.1 ENO2 MAP2
38 schizophrenia 5 10.1 MAP2 MAPT
39 breast cancer 10.1
40 colorectal cancer 10.1
41 inclusion body myositis 10.1
42 gastric cancer 10.1
43 multiple sclerosis 10.1
44 autoimmune disease 1 10.1
45 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
46 cerebral atrophy 10.1
47 spondylosis 10.1 ENO2 IL1B
48 akinetic mutism 10.1 ENO2 MAPT PRNP
49 hypoxia 10.1
50 neuropathy 10.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 ADAM10 APP ENO2 IL1B MAP2 MAPT
2 behavior/neurological MP:0005386 10.09 APP ENO2 MAP2 MAPT PRND PRNP
3 hematopoietic system MP:0005397 10.07 ADAM10 APP CR2 FPR2 IL1B MAPT
4 homeostasis/metabolism MP:0005376 10.02 ADAM10 APP CR2 FPR2 IL1B MAPT
5 immune system MP:0005387 9.96 ADAM10 APP CR2 FPR2 IL1B MAPT
6 mortality/aging MP:0010768 9.77 ADAM10 APP CR2 FPR2 IL1B MAP2
7 integument MP:0010771 9.7 ADAM10 APP IL1B MAPT PRNP SNAP25
8 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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 2 8007-45-2
2
Quinacrine Investigational Phase 2,Not Applicable 83-89-6 237
3 Anti-Infective Agents Phase 2,Not Applicable
4 Antimalarials Phase 2,Not Applicable
5 Antiprotozoal Agents Phase 2,Not Applicable
6 Anthelmintics Phase 2,Not Applicable
7 Antiparasitic Agents Phase 2,Not Applicable
8
Thrombin Approved, Investigational
9 Antibodies
10 Immunologic Factors
11 Immunoglobulins
12 Coagulants
13 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 Not Applicable Quinacrine
5 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
6 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
7 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Active, not recruiting NCT02837705
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:

41
Brain, Cortex, Testes, T Cells, Spinal Cord, Cerebellum, Pineal

Publications for Prion Disease

Articles related to Prion Disease:

(show top 50) (show all 1269)
# Title Authors Year
1
Twenty-year-old African American woman with prion disease associated with the G114V <i>PRNP</i> variant. ( 29577079 )
2018
2
Microglia Are Critical in Host Defense Against Prion Disease. ( 29769333 )
2018
3
Prion disease: Skin is a source of infectious prions in sCJD. ( 29217825 )
2018
4
Autologous neural progenitor cell transplantation into newborn mice modeling for E200K genetic prion disease delays disease progression. ( 29494865 )
2018
5
Prion disease. ( 29478593 )
2018
6
Presumptive BSE cases with an aberrant prion protein phenotype in Switzerland, 2011: Lack of prion disease in experimentally inoculated cattle and bovine prion protein transgenic mice. ( 29675959 )
2018
7
Acute Neurotoxicity Models of Prion Disease. ( 29393619 )
2018
8
Efficient prion disease transmission through common environmental materials. ( 29330304 )
2018
9
Prion disease: Dramatic increases in blood levels of tau and neurofilament light in patients with prion disease. ( 29545623 )
2018
10
Cerebrospinal Fluid Prion Disease Biomarkers in Pre-clinical and Clinical Naturally Occurring Scrapie. ( 29572672 )
2018
11
MicroRNA-16 targets mRNA involved in neurite extension and branching in hippocampal neurons during presymptomatic prion disease. ( 29277556 )
2018
12
Chronic wasting disease: an evolving prion disease of cervids. ( 29887133 )
2018
13
Decrease of RyR2 in the prion infected cell line and in the brains of the scrapie infected mice models and the patients of human prion diseases. ( 29676187 )
2018
14
Prion Disease in Dromedary Camels, Algeria. ( 29652245 )
2018
15
Alterations in neuronal metabolism contribute to the pathogenesis of prion disease. ( 29915278 )
2018
16
The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature. ( 29304167 )
2018
17
Treatment with a non-toxic, self-replicating anti-prion delays or prevents prion disease in vivo. ( 28630454 )
2018
18
MicroRNA Alterations in the Brain and Body Fluids of Humans and Animal Prion Disease Models: Current Status and Perspectives. ( 30083102 )
2018
19
Post-mortem magnetic resonance imaging in patients with suspected prion disease: Pathological confirmation, sensitivity, specificity and observer reliability. A national registry. ( 30086144 )
2018
20
Application of the fragment molecular orbital method to discover novel natural products for prion disease. ( 30166585 )
2018
21
Muskelin Coordinates PrPC Lysosome versus Exosome Targeting and Impacts Prion Disease Progression. ( 30174115 )
2018
22
Structural basis for the complete resistance of the human prion protein mutant G127V to prion disease. ( 30181558 )
2018
23
The most problematic symptoms of prion disease - an analysis of carer experiences. ( 30353798 )
2018
24
Cellular and Molecular Mechanisms of Prion Disease. ( 30355150 )
2018
25
Mitochondrial dysfunction in preclinical genetic prion disease: A target for preventive treatment? ( 30423473 )
2018
26
Therapeutic strategies for prion disease: a practical perspective. ( 30508662 )
2018
27
Ganglioside synthase knock-out reduces prion disease incubation time in mouse models. ( 30553837 )
2018
28
Stimulations of the Culture Medium of Activated Microglia and TNF-Alpha on a Scrapie-Infected Cell Line Decrease the Cell Viability and Induce Marked Necroptosis That Also Occurs in the Brains from the Patients of Human Prion Diseases. ( 30399321 )
2018
29
Lysosomal Quality Control in Prion Diseases. ( 28421536 )
2018
30
Myelin Basic Protein Citrullination, a Hallmark of Central Nervous System Demyelination, Assessed by Novel Monoclonal Antibodies in Prion Diseases. ( 28470584 )
2018
31
Toward Therapy of Human Prion Diseases. ( 28961066 )
2018
32
Translational Research in Alzheimer's and Prion Diseases. ( 29172000 )
2018
33
An Amino Acid Substitution Found in Animals with Low Susceptibility to Prion Diseases Confers a Protective Dominant-Negative Effect in Prion-Infected Transgenic Mice. ( 29264770 )
2018
34
Development of a quick bioassay for the evaluation of transmission properties of acquired prion diseases. ( 29329906 )
2018
35
Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases. ( 29388511 )
2018
36
Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. ( 29391125 )
2018
37
Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein. ( 29458424 )
2018
38
THERPA: A small molecule database related to prion protein regulation and prion diseases progression. ( 29633896 )
2018
39
Glial alterations in human prion diseases: A correlative study of astroglia, reactive microglia, protein deposition, and neuropathological lesions. ( 29642165 )
2018
40
Effects of peptidyl-prolyl isomerase 1 depletion in animal models of prion diseases. ( 29676205 )
2018
41
Regulation of MicroRNAs-Mediated Autophagic Flux: A New Regulatory Avenue for Neurodegenerative Diseases With Focus on Prion Diseases. ( 29867448 )
2018
42
Differential diagnosis with other rapid progressive dementias in human prion diseases. ( 29887146 )
2018
43
The zoonotic potential of animal prion diseases. ( 29887151 )
2018
44
Experimental models of human prion diseases and prion strains. ( 29887156 )
2018
45
Epigenetic Control of the Notch and Eph Signaling Pathways by the Prion Protein: Implications for Prion Diseases. ( 29998397 )
2018
46
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases. ( 30062673 )
2018
47
Lithium as a disease-modifying agent for prion diseases. ( 30135493 )
2018
48
Analysis of 22 Years of Surveillance for Prion Diseases in Slovenia, 1996 to 2017. ( 30294364 )
2018
49
p62-Keap1-NRF2-ARE Pathway: A Contentious Player for Selective Targeting of Autophagy, Oxidative Stress and Mitochondrial Dysfunction in Prion Diseases. ( 30337853 )
2018
50
Prion Diseases. ( 30366560 )
2018

Variations for Prion Disease

ClinVar genetic disease variations for Prion Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh37 Chromosome 20, 4680251: 4680251
2 PRNP NM_000311.4(PRNP): c.385A> G (p.Met129Val) single nucleotide variant Benign rs1799990 GRCh38 Chromosome 20, 4699605: 4699605

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
# Name Kegg Source Accession
1 Prion diseases hsa05020

GO Terms for Prion Disease

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.86 ADAM10 MAP2 MAPT PRNP
2 neuron projection GO:0043005 9.85 APP MAP2 MAPT SNAP25
3 dendritic spine GO:0043197 9.71 ADAM10 APP MAPT
4 anchored component of membrane GO:0031225 9.7 PRND PRNP SPRN
5 growth cone GO:0030426 9.69 APP MAPT SNAP25
6 neuronal cell body GO:0043025 9.65 ADAM10 ENO2 MAP2 MAPT RPSA
7 postsynapse GO:0098794 9.63 ADAM10 PRNP SNAP25
8 extracellular exosome GO:0070062 9.61 ADAM10 APP CR2 ENO2 IL1B PRNP
9 specific granule membrane GO:0035579 9.54 ADAM10 FPR2 SNAP25
10 tertiary granule membrane GO:0070821 9.5 ADAM10 FPR2 SNAP25
11 nuclear periphery GO:0034399 9.49 MAP2 MAPT
12 anchored component of external side of plasma membrane GO:0031362 9.48 PRND PRNP
13 vesicle GO:0031982 9.46 IL1B SNAP25 SPRN TF
14 somatodendritic compartment GO:0036477 9.43 MAPT SNAP25
15 main axon GO:0044304 8.8 APP MAP2 MAPT
16 plasma membrane GO:0005886 10.14 ADAM10 APP CR2 ENO2 FPR2 MAPT

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.72 APP MAP2 MAPT
2 cellular response to copper ion GO:0071280 9.56 APP PRNP
3 response to lead ion GO:0010288 9.54 APP MAPT
4 microglial cell activation GO:0001774 9.52 FPR2 MAPT
5 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.51 APP PRNP
6 positive regulation of superoxide anion generation GO:0032930 9.49 FPR2 MAPT
7 central nervous system neuron development GO:0021954 9.48 MAP2 MAPT
8 complement receptor mediated signaling pathway GO:0002430 9.46 CR2 FPR2
9 negative regulation of long-term synaptic potentiation GO:1900272 9.43 APP PRNP
10 neuron projection maintenance GO:1990535 9.4 APP PRNP
11 regulation of microtubule polymerization GO:0031113 9.37 MAP2 MAPT
12 cellular response to amyloid-beta GO:1904646 9.33 APP FPR2 PRNP
13 amyloid fibril formation GO:1990000 9.32 APP MAPT
14 modulation of age-related behavioral decline GO:0090647 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 tubulin binding GO:0015631 8.8 MAP2 MAPT PRNP

Sources for Prion Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....