Prion Disease

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

Aliases & Classifications for Prion Disease

MalaCards integrated aliases for Prion Disease:

Name: Prion Disease 12 26 38 15 41 17
Prion Diseases 55 56 3 45 74
Spongiform Encephalopathy 12 77
Prion Disease Pathway 12 74
Human Transmissible Spongiform Encephalopathies, Inherited 74
Inherited Human Transmissible Spongiform Encephalopathies 26
Transmissible Spongiform Encephalopathies 26
Transmissible Spongiform Encephalopathy 12
Prion Disease, Susceptibility to 6
Prion-Associated Disorders 26
Prion-Induced Disorders 26
Transmissible Dementias 26
Prion Induced Disorder 12
Prion Protein Diseases 26
Prion Protein Disease 12
Prion Protein 13
Tses 26


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Disease Ontology 12 DOID:649
KEGG 38 H00061
MeSH 45 D017096
NCIt 51 C128346
SNOMED-CT 69 20484008
ICD10 34 A81.9

Summaries for Prion Disease

NINDS : 55 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 chronic wasting 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 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 : 26 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 : 77 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 182)
# Related Disease Score Top Affiliating Genes
1 gerstmann-straussler disease 32.5 APP MSMB PRNP
2 chronic wasting disease 32.5 CR2 PRNP SPRN
3 fatal familial insomnia 32.1 MSMB PRNP
4 creutzfeldt-jakob disease 30.9 ENO2 MAPT MSMB PRND PRNP RPSA
5 cerebral hemorrhage 30.0 APP IL1B
6 aphasia 29.7 APP MAPT PRNP
7 vascular dementia 29.6 APP MAPT SERPINA3
8 alzheimer disease 29.3 ADAM10 APP IL1B MAP2 MAPT PRNP
9 cerebral amyloid angiopathy, cst3-related 29.3 APP MAPT PRNP SERPINA3
10 amyotrophic lateral sclerosis 1 29.0 APP MAP2 MAPT PRNP SOD2 TFRC
11 scrapie 28.7 ADAM10 APP ENO2 MAP2 MSMB PRND
12 genetic prion diseases 12.4
13 familial alzheimer-like prion disease 12.1
14 huntington disease-like 1 12.0
15 spongiform encephalopathy with neuropsychiatric features 11.6
16 kuru 11.5
17 gerstmann syndrome 11.3
18 prp systemic amyloidosis 11.3
19 barber-say syndrome 11.2
20 variably protease-sensitive prionopathy 11.0
21 nasopharyngeal carcinoma 2 11.0
22 nasopharyngeal carcinoma 11.0
23 ciliary dyskinesia, primary, 26 11.0
24 ciliary dyskinesia, primary, 27 11.0
25 pityriasis rubra pilaris 10.7
26 encephalopathy 10.6
27 papillary tumor of the pineal region 10.3 ENO2 MAP2
28 cerebellum cancer 10.3 ENO2 MAP2
29 dementia 10.2
30 autoimmune disease 10.2
31 rabies 10.2
32 helix syndrome 10.2
33 haemophilus influenzae 10.2 IL1B TF
34 breast cancer 10.2
35 myositis 10.2
36 folic acid deficiency anemia 10.2 TF TFRC
37 akinetic mutism 10.2 ENO2 MAPT PRNP
38 epithelioid leiomyosarcoma 10.2 ENO2 SERPINA3
39 colorectal cancer 10.1
40 inclusion body myositis 10.1
41 buschke-ollendorff syndrome 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 neuropathy 10.1
48 neuroblastoma 1 10.1
49 hypoxia 10.1
50 prostate cancer 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:

# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ADAM10 APP ENO2 IL1B MAP2 MAPT
2 hematopoietic system MP:0005397 10.06 ADAM10 APP CR2 FPR2 IL1B MAPT
3 immune system MP:0005387 10 ADAM10 APP CR2 FPR2 IL1B MAPT
4 mortality/aging MP:0010768 9.77 ADAM10 APP CR2 FPR2 IL1B MAP2
5 integument MP:0010771 9.7 ADAM10 APP IL1B MAPT PRNP SOD2
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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Coal tar Approved Phase 2 8007-45-2
Quinacrine Investigational Phase 2,Not Applicable 83-89-6 237
3 Anthelmintics Phase 2,Not Applicable
4 Anti-Infective Agents Phase 2,Not Applicable
5 Antimalarials Phase 2,Not Applicable
6 Antiparasitic Agents Phase 2,Not Applicable
7 Antiprotozoal Agents Phase 2,Not Applicable
Thrombin Approved, Investigational
9 Immunoglobulins
10 Antibodies
11 Immunologic Factors
12 Hemostatics
13 Coagulants

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. Terminated 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:

Brain, Cortex, Testes, Spinal Cord, T Cells, Cerebellum, Spleen

Publications for Prion Disease

Articles related to Prion Disease:

(show top 50) (show all 1312)
# Title Authors Year
Kuru, the First Human Prion Disease. ( 30866511 )
GPI-anchor signal sequence influences PrPC sorting, shedding and signalling, and impacts on different pathomechanistic aspects of prion disease in mice. ( 30608982 )
Neuroinflammation, Microglia, and Cell-Association during Prion Disease. ( 30650564 )
Early neurophysiological biomarkers and spinal cord pathology in inherited prion disease. ( 30698738 )
The cell type resolved mouse transcriptome in neuron-enriched brain tissues from the hippocampus and cerebellum during prion disease. ( 30705335 )
Unaltered prion disease in mice lacking developmental endothelial locus-1. ( 30743056 )
Corrigendum. ( 30778521 )
SARM1 deficiency up-regulates XAF1, promotes neuronal apoptosis, and accelerates prion disease. ( 30842236 )
Experimental models to study prion disease pathogenesis and identify potential therapeutic compounds. ( 30878006 )
The First Report of Polymorphisms and Genetic Features of the prion-like Protein Gene (PRND) in a Prion Disease-Resistant Animal, Dog. ( 30897750 )
Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development. ( 30936307 )
Effect of co-infection with a small intestine-restricted helminth pathogen on oral prion disease pathogenesis in mice. ( 31040320 )
A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family. ( 31107536 )
Clinical trials of prion disease therapeutics. ( 31108459 )
Cellular and Molecular Mechanisms of Prion Disease. ( 30355150 )
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 )
Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases. ( 30062673 )
Oxidative and Inflammatory Events in Prion Diseases: Can They Be Therapeutic Targets? ( 30636622 )
Prions Strongly Reduce NMDA Receptor S-Nitrosylation Levels at Pre-symptomatic and Terminal Stages of Prion Diseases. ( 30710214 )
A Single Amino Acid Substitution, Found in Mammals with Low Susceptibility to Prion Diseases, Delays Propagation of Two Prion Strains in Highly Susceptible Transgenic Mouse Models. ( 30847740 )
A new drug to treat prion diseases. ( 30858584 )
Feasibility of Remote Assessment of Human Prion Diseases for Research and Surveillance. ( 30861521 )
A designer chaperone against prion diseases. ( 30948815 )
Axonal changes in experimental prion diseases recapitulate those following constriction of postganglionic branches of the superior cervical ganglion: a comparison 40 years later. ( 30966865 )
Human prion diseases. ( 31008724 )
Ok google, how could i design therapeutics against prion diseases? ( 31059982 )
Autophagy pathways in the treatment of prion diseases. ( 31096117 )
The language disorder of prion disease is characteristic of a dynamic aphasia and is rarely an isolated clinical feature. ( 29304167 )
Chronic wasting disease: an evolving prion disease of cervids. ( 29887133 )
Prion diseases with a focus on Creutzfeldt-Jakob disease, a summary of the incidence of Creutzfeldt-Jakob disease in the Czech Republic over the last 17 years, 2000-2017. ( 30630318 )
Co-occurrence of chronic traumatic encephalopathy and prion disease. ( 30563563 )
Toll-like receptor 2 confers partial neuroprotection during prion disease. ( 30596651 )
Treatment with a non-toxic, self-replicating anti-prion delays or prevents prion disease in vivo. ( 28630454 )
Prion disease: Skin is a source of infectious prions in sCJD. ( 29217825 )
MicroRNA-16 targets mRNA involved in neurite extension and branching in hippocampal neurons during presymptomatic prion disease. ( 29277556 )
Efficient prion disease transmission through common environmental materials. ( 29330304 )
Acute Neurotoxicity Models of Prion Disease. ( 29393619 )
Prion disease. ( 29478593 )
Autologous neural progenitor cell transplantation into newborn mice modeling for E200K genetic prion disease delays disease progression. ( 29494865 )
Prion disease: Dramatic increases in blood levels of tau and neurofilament light in patients with prion disease. ( 29545623 )
Cerebrospinal Fluid Prion Disease Biomarkers in Pre-clinical and Clinical Naturally Occurring Scrapie. ( 29572672 )
Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant. ( 29577079 )
Prion Disease in Dromedary Camels, Algeria. ( 29652245 )
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 )
Microglia Are Critical in Host Defense Against Prion Disease. ( 29769333 )
Alterations in neuronal metabolism contribute to the pathogenesis of prion disease. ( 29915278 )
MicroRNA Alterations in the Brain and Body Fluids of Humans and Animal Prion Disease Models: Current Status and Perspectives. ( 30083102 )
Post-mortem magnetic resonance imaging in patients with suspected prion disease: Pathological confirmation, sensitivity, specificity and observer reliability. A national registry. ( 30086144 )
Application of the fragment molecular orbital method to discover novel natural products for prion disease. ( 30166585 )
Muskelin Coordinates PrPC Lysosome versus Exosome Targeting and Impacts Prion Disease Progression. ( 30174115 )

Variations for Prion Disease

ClinVar genetic disease variations for Prion Disease:

# 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:

# 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 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.91 APP IL1B MAPT MSMB PRND SERPINA3
2 cell surface GO:0009986 9.8 ADAM10 APP PRNP TF TFRC
3 blood microparticle GO:0072562 9.71 SERPINA3 TF TFRC
4 dendritic spine GO:0043197 9.7 ADAM10 APP MAPT
5 anchored component of membrane GO:0031225 9.69 PRND PRNP SPRN
6 clathrin-coated pit GO:0005905 9.5 APP TF TFRC
7 nuclear periphery GO:0034399 9.48 MAP2 MAPT
8 anchored component of external side of plasma membrane GO:0031362 9.46 PRND PRNP
9 neuronal cell body GO:0043025 9.46 ADAM10 ENO2 MAP2 MAPT
10 HFE-transferrin receptor complex GO:1990712 9.37 TF TFRC
11 extracellular exosome GO:0070062 9.36 ADAM10 APP CR2 ENO2 IL1B PRNP
12 main axon GO:0044304 9.13 APP MAP2 MAPT
13 plasma membrane GO:0005886 10.17 ADAM10 APP CR2 ENO2 FPR2 MAPT
14 extracellular space GO:0005615 10.04 APP ENO2 IL1B MSMB SERPINA3 TF

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.75 APP MAP2 MAPT
2 platelet degranulation GO:0002576 9.72 APP SERPINA3 TF
3 viral entry into host cell GO:0046718 9.65 CR2 RPSA TFRC
4 response to lead ion GO:0010288 9.57 APP MAPT
5 microglial cell activation GO:0001774 9.56 FPR2 MAPT
6 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.54 APP PRNP
7 positive regulation of superoxide anion generation GO:0032930 9.52 FPR2 MAPT
8 central nervous system neuron development GO:0021954 9.51 MAP2 MAPT
9 cellular response to drug GO:0035690 9.5 IL1B PRNP TFRC
10 complement receptor mediated signaling pathway GO:0002430 9.49 CR2 FPR2
11 negative regulation of long-term synaptic potentiation GO:1900272 9.46 APP PRNP
12 neuron projection maintenance GO:1990535 9.43 APP PRNP
13 regulation of microtubule polymerization GO:0031113 9.4 MAP2 MAPT
14 amyloid fibril formation GO:1990000 9.37 APP MAPT
15 cellular response to amyloid-beta GO:1904646 9.33 APP FPR2 PRNP
16 modulation of age-related behavioral decline GO:0090647 9.26 APP PRNP
17 cellular copper ion homeostasis GO:0006878 9.13 APP PRND PRNP
18 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 virus receptor activity GO:0001618 9.13 CR2 RPSA TFRC
2 tubulin binding GO:0015631 8.8 MAP2 MAPT PRNP

Sources for Prion Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
33 HPO
34 ICD10
35 ICD10 via Orphanet
39 LifeMap
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
56 Novoseek
59 OMIM via Orphanet
63 PubMed
71 SNOMED-CT via Orphanet
73 Tocris
75 UMLS via Orphanet
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