MCID: PRN023
MIFTS: 50

Prion Disease

Categories: Neuronal diseases, Mental diseases

Aliases & Classifications for Prion Disease

MalaCards integrated aliases for Prion Disease:

Name: Prion Disease 12 25 15 40
Prion Diseases 54 37 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 C27585
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 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 : 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 For Questions or Comments on Prions E-mail Us.

Wikipedia : 76 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 58)
# Related Disease Score Top Affiliating Genes
1 fatal familial insomnia 32.7 MSMB PRNP
2 gerstmann-straussler disease 32.5 APP MSMB PRNP
3 chronic wasting disease 30.9 CR2 PRNP SPRN
4 creutzfeldt-jakob disease 30.2 ENO2 MAPT MSMB PRND PRNP RPSA
5 aphasia 29.5 APP MAPT PRNP
6 frontotemporal dementia 29.1 APP MAPT PRNP
7 amyotrophic lateral sclerosis 1 28.8 APP MAP2 MAPT PRNP
8 alzheimer disease 27.3 ADAM10 APP FPR2 IL1B MAP2 MAPT
9 scrapie 26.7 ADAM10 APP ENO2 MAP2 MSMB PRND
10 genetic prion diseases 12.4
11 familial alzheimer-like prion disease 12.0
12 huntington disease-like 1 11.6
13 kuru 11.3
14 spongiform encephalopathy with neuropsychiatric features 11.1
15 variably protease-sensitive prionopathy 10.8
16 papillary tumor of the pineal region 10.7 ENO2 MAP2
17 cerebellum cancer 10.7 ENO2 MAP2
18 haemophilus influenzae 10.6 IL1B TF
19 central neurocytoma 10.4 ENO2 MAP2
20 chondroid chordoma 10.4 ENO2 MAP2
21 akinetic mutism 10.3 ENO2 MAPT PRNP
22 encephalopathy 10.3
23 cerebral hemorrhage 10.3 APP IL1B PRNP
24 neuronitis 10.2
25 familial idiopathic basal ganglia calcification 10.2 APP MAPT
26 kluver-bucy syndrome 10.2 APP MAPT
27 leukoencephalopathy, hereditary diffuse, with spheroids 10.0 APP MAPT PRNP
28 aging 10.0
29 dementia 10.0
30 spondylosis 10.0 ENO2 IL1B
31 cerebral amyloid angiopathy, cst3-related 10.0 APP MAPT PRNP
32 toxic encephalopathy 10.0 APP IL1B MAP2 PRNP
33 dementia, lewy body 10.0 APP MAPT PRNP
34 cerebritis 9.9
35 neuropathy 9.9
36 hydrocephalus 9.8 APP ENO2 MAPT
37 tonsillitis 9.8
38 autonomic neuropathy 9.8
39 diarrhea 9.8
40 binswanger's disease 9.8 APP MAPT
41 central nervous system disease 9.8 APP IL1B MAPT PRNP
42 nervous system disease 9.8 APP IL1B MAPT PRNP
43 huntington disease 9.6
44 pick disease of brain 9.6
45 aceruloplasminemia 9.6
46 ataxia-oculomotor apraxia 3 9.6
47 spinal cord injury 9.6
48 colitis 9.6
49 myiasis 9.6
50 lateral sclerosis 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 SPRN ADAM10 MAP2 TF MAPT APP
2 hematopoietic system MP:0005397 10.02 SCN2A IL1B ADAM10 TF MAPT APP
3 homeostasis/metabolism MP:0005376 9.96 SCN2A IL1B LDLRAP1 TF ADAM10 MAPT
4 immune system MP:0005387 9.81 IL1B ADAM10 MAPT MSMB APP PRND
5 mortality/aging MP:0010768 9.73 SPRN ADAM10 MAP2 TF MAPT APP
6 nervous system MP:0003631 9.32 SCN2A IL1B SPRN MAP2 ADAM10 MAPT

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,Not Applicable 83-89-6 237
2
Coal tar Approved Phase 2 8007-45-2
3 Anthelmintics Phase 2,Not Applicable
4 Anti-Infective Agents Phase 2,Not Applicable
5 Antiparasitic Agents Phase 2,Not Applicable
6 Antiprotozoal Agents Phase 2,Not Applicable
7 Antimalarials Phase 2,Not Applicable
8
Thrombin Approved, Investigational
9 Antibodies
10 Immunoglobulins
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 Not Applicable 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:

41
Brain, Cortex, Testes, Spleen, Tonsil, T Cells, Bone

Publications for Prion Disease

Articles related to Prion Disease:

(show top 50) (show all 688)
# 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
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
18
Evolution of Diagnostic Tests for Chronic Wasting Disease, a Naturally Occurring Prion Disease of Cervids. ( 28783058 )
2017
19
Seeking a New Paradigm for Alzheimer's Disease: Considering the Roles of Inflammation, Blood-Brain Barrier Dysfunction, and Prion Disease. ( 29359063 )
2017
20
Real-Time Quaking-Induced Conversion for Diagnosis of Prion Disease. ( 28861798 )
2017
21
Gastrostomy in patients with prion disease. ( 28509623 )
2017
22
Effects of a naturally occurring amino acid substitution in bovine PrP: a model for inherited prion disease in a natural host species. ( 29262866 )
2017
23
Methods for Molecular Diagnosis of Human Prion Disease. ( 28861799 )
2017
24
Norway seeks to stamp out prion disease. ( 28385963 )
2017
25
Therapeutic effect of autologous compact bone-derived mesenchymal stem cell transplantation on prion disease. ( 28874230 )
2017
26
Oral Prion Disease Pathogenesis Is Impeded in the Specific Absence of CXCR5-Expressing Dendritic Cells. ( 28275192 )
2017
27
Genetic PrP Prion Diseases. ( 28778873 )
2017
28
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
29
Prion disease: 'Anti-prions' block prion disease onset. ( 28685760 )
2017
30
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
31
RT-QuIC Assays for Prion Disease Detection and Diagnostics. ( 28861791 )
2017
32
Genetic human prion disease modelled in PrP transgenic Drosophila. ( 28814578 )
2017
33
Neuroanatomical correlates of prion disease progression - a 3T longitudinal voxel-based morphometry study. ( 27942451 )
2017
34
Age and Environment Influences on Mouse Prion Disease Progression: Behavioral Changes and Morphometry and Stereology of Hippocampal Astrocytes. ( 28243355 )
2017
35
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. ( 27716661 )
2017
36
Prion disease pathogenesis in the absence of the commensal microbiota. ( 28708055 )
2017
37
Correction: Fatal Prion Disease in a Mouse Model of Genetic E200K Creutzfeldt-Jakob Disease. ( 28467504 )
2017
38
Prion disease: experimental models and reality. ( 28084518 )
2017
39
Analysis of miRNA Signatures in Neurodegenerative Prion Disease. ( 28861783 )
2017
40
Prion disease: AI^ pathology in human growth hormone recipients. ( 28418021 )
2017
41
Disease-associated protein seeding suggests a dissociation between misfolded protein accumulation and neurodegeneration in prion disease. ( 29023184 )
2017
42
Treatment with a non-toxic, self-replicating anti-prion delays or prevents prion disease in vivo. ( 28630454 )
2017
43
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. ( 27943639 )
2017
44
Correction: Increased Abundance of M Cells in the Gut Epithelium Dramatically Enhances Oral Prion Disease Susceptibility. ( 28212438 )
2017
45
Increased circulating microRNAs miR-342-3p and miR-21-5p in natural sheep prion disease. ( 27959774 )
2016
46
Diagnosis of Human Prion Disease Using Real-Time Quaking-Induced Conversion Testing of Olfactory Mucosa and Cerebrospinal Fluid Samples. ( 27942718 )
2016
47
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
48
MicroRNA abundance is altered in synaptoneurosomes during prion disease. ( 26658803 )
2016
49
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
50
Prion 2016 Animal Prion Disease Workshop Abstracts. ( 27088807 )
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
# 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 plasma membrane GO:0005886 9.73 ADAM10 APP CR2 ENO2 FPR2 LDLRAP1
2 anchored component of membrane GO:0031225 9.54 PRND PRNP SPRN
3 axon GO:0030424 9.46 APP LDLRAP1 MAPT SCN2A
4 nuclear periphery GO:0034399 9.32 MAP2 MAPT
5 anchored component of external side of plasma membrane GO:0031362 9.26 PRND PRNP
6 main axon GO:0044304 8.8 APP MAP2 MAPT
7 extracellular exosome GO:0070062 10.01 ADAM10 APP CR2 ENO2 IL1B PRNP

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.75 APP FPR2 IL1B
2 neuron projection development GO:0031175 9.74 APP MAP2 MAPT
3 positive regulation of receptor-mediated endocytosis GO:0048260 9.56 LDLRAP1 TF
4 regulation of protein binding GO:0043393 9.55 APP LDLRAP1
5 response to lead ion GO:0010288 9.54 APP MAPT
6 regulation of peptidyl-tyrosine phosphorylation GO:0050730 9.52 APP PRNP
7 positive regulation of superoxide anion generation GO:0032930 9.51 FPR2 MAPT
8 central nervous system neuron development GO:0021954 9.49 MAP2 MAPT
9 microglial cell activation GO:0001774 9.48 FPR2 MAPT
10 complement receptor mediated signaling pathway GO:0002430 9.46 CR2 FPR2
11 regulation of microtubule polymerization GO:0031113 9.43 MAP2 MAPT
12 amyloid fibril formation GO:1990000 9.4 APP MAPT
13 negative regulation of long-term synaptic potentiation GO:1900272 9.37 APP PRNP
14 cellular response to amyloid-beta GO:1904646 9.33 APP FPR2 PRNP
15 modulation of age-related behavioral decline GO:0090647 9.32 APP PRNP
16 neuron projection maintenance GO:1990535 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 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
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
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