Prion Disease (TSE)

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

Aliases & Classifications for Prion Disease

MalaCards integrated aliases for Prion Disease:

Name: Prion Disease 12 43 36 15 39 17
Prion Diseases 53 54 44 70
Transmissible Spongiform Encephalopathies 43 53 3
Spongiform Encephalopathy 12 73 6
Transmissible Spongiform Encephalopathy 12 58
Prion Disease Pathway 12 70
Human Transmissible Spongiform Encephalopathies, Inherited 70
Inherited Human Transmissible Spongiform Encephalopathies 43
Prion Disease, Susceptibility to 6
Spongiform Encephalopathies 15
Prion-Associated Disorders 43
Prion-Induced Disorders 43
Transmissible Dementias 43
Prion Induced Disorder 12
Prion Protein Diseases 43
Prion Protein Disease 12
Human Prion Disease 58
Tses 43
Tse 58


Orphanet epidemiological data:

human prion disease
Age of onset: Adult;


Orphanet: 58  
Rare neurological diseases

External Ids:

Disease Ontology 12 DOID:649
KEGG 36 H00061
MeSH 44 D017096
NCIt 50 C128346
SNOMED-CT 67 20484008
ICD10 32 A81.9
ICD10 via Orphanet 33 A81.0 A81.1 A81.8 more
UMLS via Orphanet 71 C0162534
Orphanet 58 ORPHA56970
UMLS 70 C0162534 C0751645 C3536911

Summaries for Prion Disease

NINDS : 53 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 syndrome and listeriosis. An important gene associated with Prion Disease is PRNP (Prion Protein), and among its related pathways/superpathways are Prion disease and Pathways of neurodegeneration - multiple diseases. The drugs Bazedoxifene and Mesna have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and spleen, and related phenotypes are cellular 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.

MedlinePlus Genetics : 43 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. The causative agents of TSEs are believed to be prions. The term "prions" refers to abnormal, pathogenic agents that are transmissible and are able to induce abnormal folding of specific normal cellular proteins called prion proteins that are found most abundantly in the brain. The functions of these normal prion proteins are still not completely understood. The abnormal folding of the prion proteins leads to brain damage and the characteristic signs and symptoms of the disease. Prion diseases are usually rapidly progressive and always fatal.

KEGG : 36 Prion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of these diseases is thought to be associated with the conversion of a normal protein, PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker syndrome, fatal familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease resistance than PrPC and accumulates in affected individuals, often in the form of extracellular plaques. Pathways that may lead to neuronal death comprise oxidative stress, regulated activation of complement, ubiquitin-proteasome and endosomal-lysosomal systems, synaptic alterations and dendritic atrophy, corticosteroid response, and endoplasmic reticulum stress. In addition, the conformational transition could lead to the lost of a beneficial activity of the natively folded protein, PrPC.

Wikipedia : 73 Transmissible spongiform encephalopathies (TSEs) are a group of progressive, invariably fatal,... more...

Related Diseases for Prion Disease

Diseases in the Prion Disease family:

Inherited Human Prion Disease Sporadic Human Prion Disease
Acquired Human Prion Disease

Diseases related to Prion Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 553)
# Related Disease Score Top Affiliating Genes
1 gerstmann syndrome 32.3 PRNP MAPT
2 listeriosis 31.2 TNF IL6 IL1B
3 creutzfeldt-jakob disease 31.1 SPRN SNCA PRNP PRND MSMB MAPT
4 viral encephalitis 31.0 TNF IL6 IL1B
5 gerstmann-straussler disease 31.0 SPRN SNCA PRNP PRND MSMB MAPT
6 encephalomalacia 31.0 TNF IL6 IL1B CASP3
7 chronic wasting disease 30.9 SPRN SOD1 SNCA PRNP PRND MSMB
8 akinetic mutism 30.9 SNCA PRNP MAPT
9 plague 30.9 TNF IL6 IL1B
10 cholera 30.8 TNF IL6 IL1B CAV1
12 parkinsonism 30.8 SNCA MAPT LRRK2
13 fatal familial insomnia 30.8 SPRN SNCA PRNP PRND MSMB MAPT
14 disease by infectious agent 30.7 TNF MIR342 IL6 IL1B
15 neuritis 30.7 TNF SNCA MAPT IL6 IL1B
16 amyloidosis 30.7 TNF SNCA PRNP MAPT IL6 IL1B
17 huntington disease 30.6 SOD1 SNCA PRNP MAPT CYCS CASP3
18 dementia 30.6 TNF SNCA PRNP PRKN MAPT LRRK2
19 tremor 30.6 SNCA PRKN LRRK2
20 traumatic brain injury 30.5 IL6 IL1B CASP3
22 spinal cord injury 30.5 TNF IL6 CASP3
23 tetanus 30.5 TNF IL6 IL1B CAV1
24 acute cystitis 30.5 TNF IL6 IL1B
25 ileus 30.5 TNF IL6 IL1B
26 vascular dementia 30.4 TNF SOD1 PRNP MAPT IL6 IL1B
27 cerebral amyloid angiopathy, cst3-related 30.4 SNCA PRNP MAPT
28 aphasia 30.4 SNCA PRNP MAPT LRRK2
29 leukoencephalopathy, hereditary diffuse, with spheroids 30.4 SNCA PRNP PRKN MAPT
30 proteasome-associated autoinflammatory syndrome 1 30.4 TNF IL6 IL1B
31 ischemia 30.4 SOD1 HSPA8 HSPA5 CYCS CASP3
32 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.4 PRNP MAPT
33 frontotemporal dementia 30.3 SOD1 SNCA PRNP MAPT LRRK2
34 sleep disorder 30.3 TNF SNCA MAPT LRRK2 IL6 IL1B
35 demyelinating disease 30.3 TNF MAPT IL6 IL1B
36 autosomal dominant cerebellar ataxia 30.3 SOD1 SNCA PRNP PRKN MAPT LRRK2
37 multiple system atrophy 1 30.3 SNCA PRNP PRKN MAPT LRRK2
38 neuroblastoma 30.3 TNF SOD1 SNCA PRNP MIR342 MAPT
39 movement disease 30.2 SNCA PRKN MAPT LRRK2
40 myositis 30.2 TNF SNCA MAPT IL6 IL1B
41 alzheimer disease 30.2 TNF SOD1 SNCA PRNP PRKN MAPT
42 speech and communication disorders 30.2 TNF SNCA PRNP MAPT IL6 IL1B
43 dementia, lewy body 30.1 SOD1 SNCA PRNP PRKN MAPT LRRK2
44 myeloma, multiple 30.1 TNF MIR342 IL6 IL1B CYCS CASP3
45 parkinson disease, late-onset 30.0 SOD1 SNCA PRNP PRKN MAPT LRRK2
46 myopathy 30.0 SOD1 SNCA PRNP MAPT IL6 IL1B
47 pick disease of brain 30.0 SOD1 SNCA PRNP PRKN MAPT LRRK2
48 supranuclear palsy, progressive, 1 30.0 SOD1 SNCA PRNP PRKN MAPT LRRK2
49 central nervous system disease 29.9 TNF SNCA PRNP MIR342 MAPT IL6
50 amyotrophic lateral sclerosis 1 29.8 TNF SOD1 SNCA PRNP PRKN MAPT

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 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.43 CASP3 CAV1 CYCS FYN HSPA5 IL6
2 behavior/neurological MP:0005386 10.42 CASP3 CAV1 CYCS FYN IL6 LRRK2
3 cardiovascular system MP:0005385 10.38 CASP3 CAV1 CYCS HSPA5 IL1B IL6
4 growth/size/body region MP:0005378 10.38 CASP3 CAV1 CYCS FYN HSPA5 IL1B
5 immune system MP:0005387 10.37 CASP3 CAV1 CYCS FYN IL1B IL6
6 homeostasis/metabolism MP:0005376 10.36 CASP3 CAV1 FYN HSPA5 IL1B IL6
7 mortality/aging MP:0010768 10.36 CASP3 CAV1 CYCS FYN HSPA5 IL1B
8 integument MP:0010771 10.32 CASP3 CAV1 FYN HSPA5 IL1B IL6
9 hematopoietic system MP:0005397 10.3 CASP3 CAV1 CYCS FYN IL1B IL6
10 nervous system MP:0003631 10.3 CASP3 CAV1 CYCS FYN HSPA5 IL1B
11 endocrine/exocrine gland MP:0005379 10.29 CASP3 CAV1 CYCS FYN IL6 LRRK2
12 muscle MP:0005369 10.03 CASP3 CAV1 IL6 MAPT PRKN PRNP
13 neoplasm MP:0002006 10.01 CAV1 HSPA5 IL1B IL6 MAPT MSMB
14 no phenotypic analysis MP:0003012 9.92 CASP3 FYN LRRK2 MAPT PRKN PRNP
15 reproductive system MP:0005389 9.9 CASP3 CAV1 FYN HSPA5 IL6 MSMB
16 renal/urinary system MP:0005367 9.86 CASP3 CAV1 FYN HSPA5 IL6 LRRK2
17 skeleton MP:0005390 9.73 CASP3 CAV1 CYCS IL1B IL6 LRRK2
18 taste/olfaction MP:0005394 8.92 CASP3 FYN MAPT SNCA

Drugs & Therapeutics for Prion Disease

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

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
Mesna Approved, Investigational Phase 3 3375-50-6 598
Etoposide Approved Phase 3 33419-42-0 36462
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Lenograstim Approved, Investigational Phase 3 135968-09-1
Choline Approved, Nutraceutical Phase 3 62-49-7 305
11 Hormone Antagonists Phase 3
12 Hormones Phase 3
13 Estrogen Receptor Modulators Phase 3
14 Estrogens Phase 3
15 Anesthetics Phase 3
16 Tubulin Modulators Phase 3
17 Alkylating Agents Phase 3
18 Antibiotics, Antitubercular Phase 3
19 topoisomerase I inhibitors Phase 3
20 Etoposide phosphate Phase 3
Liposomal doxorubicin Phase 3 31703
22 Immunosuppressive Agents Phase 3
23 Antirheumatic Agents Phase 3
24 Immunologic Factors Phase 3
25 Antimitotic Agents Phase 3
26 Anti-Bacterial Agents Phase 3
Coal tar Approved Phase 2 8007-45-2
Nicotine Approved Phase 2 54-11-5 942 89594
Quinacrine Investigational Phase 2 83-89-6 237
30 Anti-Infective Agents Phase 2
31 Antiparasitic Agents Phase 2
32 Antimalarials Phase 2
33 Anthelmintics Phase 2
34 Antiprotozoal Agents Phase 2
Flumazenil Approved 78755-81-4 3373
Thrombin Approved, Investigational
37 Immunoglobulins
38 Antibodies
39 Antidotes
40 Protective Agents
41 GABA Modulators
42 Neurotransmitter Agents

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Fracture Incidence Reduction And Safety Of TSE-424 (Bazedoxifene Acetate) Compared To Placebo And Raloxifene In Osteoporotic Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
2 A Multicenter, Double Blind, Randomized, Placebo and Raloxifene Controlled Study to Assess Safety and Efficacy of TSE-424 (Bazedoxifene Acetate) in the Prevention of Postmenopausal Osteoporosis Completed NCT00481169 Phase 3 Bazedoxifene Acetate (TSE-424)
3 Clinical Value of [18]Fluoroethylcholine Positron-Emission-Tomography Combined With Endorectal Magnetic Resonance Imaging by Software Fusion for Pre-therapeutic Staging of Prostate Cancer Completed NCT00520546 Phase 3
4 Protocol for the Study and Treatment of Patients With Intraocular Retinoblastoma Active, not recruiting NCT00186888 Phase 3 Vincristine, Carboplatin;Vincristine and Topotecan;Vincristine + Carboplatin + Etoposide;vincristine, cyclophosphamide, and doxorubicin;Vincristine, Carboplatin and Etoposide
5 Novel Therapeutics For Prion Diseases: A Randomized, Double-blinded, Placebo-controlled Study of the Efficacy of Quinacrine in the Treatment of Sporadic Creutzfeldt-Jakob Disease Completed NCT00183092 Phase 2 Quinacrine;Placebo
6 Bone Mineral Density Increase and Safety of TSE-424 Compared to Placebo in Osteoporotic Postmenopausal Women Completed NCT00238745 Phase 2 Bazedoxifene;Placebo
7 A Program to Protect Young Children From Tobacco Smoke Exposure Completed NCT01335178 Phase 2
8 Task Specific Exercise for the Pre-Clinically Disabled Completed NCT01183507 Phase 1
9 Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers Unknown status NCT02837705
10 PET With [18F]Flumazenil as an Index of Neurodegeneration in MS: Sensitivity at an Early Disease Stage and Pathophysiological Meaning Unknown status NCT03825601
11 Prospective, Pilot, Comparative, Monocentric Study of Diagnosis Capabilities of the Three-dimensional Cone-Beam CT Sialography (3D-CBCT Sialography) and MRI Sialography in Non-tumor Salivary Diseases Unknown status NCT02883140
12 PRION-1: Quinacrine for Human Prion Disease. A Partially Randomized Patient Preference Trial to Evaluate the Activity and Safety of Quinacrine in Human Prion Disease Completed NCT00104663 Quinacrine
13 Study Of The Agreement Between The mDixon TSE Sequence And Conventional MRI Sequences In The Evaluation Of Dysimmune Orbitopathies Completed NCT02397109
14 Pediatric Inpatient Firearm Safety Study Completed NCT03077646
15 Enhanced CJD Surveillance in the Older Population Recruiting NCT02629640
16 Imaging SARS-CoV-2 Involvement of Leptomeninges, Olfactory and Limbic Areas Recruiting NCT04448054
17 Contrast-enhanced 3D T1-weighted Gradient-echo Versus Spin-echo 3 Tesla MR Sequences in the Detection of Active Multiple Sclerosis Lesions Recruiting NCT03268239
18 Concordance and Accuracy of Magnetic Resonance Imaging in the Detection of Meningiomas: Optimizing Sequences With Low Doses of Gadolinium Recruiting NCT04113395
19 The Role of the Coagulation Pathway at the Synapse in Prion Diseases Not yet recruiting NCT02480725
20 Comparison of the Performance of an Optimized 3D EPI SWI Sequence and a Non-EPI QSM SWI Sequence in Detecting the Central Vein Sign in Patients With Multiple Sclerosis Not yet recruiting NCT04705870
21 Magnetic Resonance Imaging (MRI) Guided Focal Laser Interstitial Thermal Ablation of Localized Prostate Cancer Terminated NCT03634579

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, Spleen, Prostate, Bone Marrow, Cerebellum, Skin

Publications for Prion Disease

Articles related to Prion Disease:

(show top 50) (show all 6364)
# Title Authors PMID Year
A novel protective prion protein variant that colocalizes with kuru exposure. 6 54 61
19923577 2009
Prion disease genetics. 61 6 54
16391566 2006
Prion disease associated with a novel nine octapeptide repeat insertion in the PRNP gene. 6 54 61
8750875 1995
Genetic Creutzfeldt-Jakob disease. 61 6
29887139 2018
Substitutions at residue 211 in the prion protein drive a switch between CJD and GSS syndrome, a new mechanism governing inherited neurodegenerative disorders. 61 6
22965875 2012
Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. 61 6
19911184 2010
A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation. 6 61
18955686 2008
Complete sequence data support lack of balancing selection on PRNP in a natural Chinese population. 61 6
16565881 2006
Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population. 6 61
16217673 2005
Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia. 6 61
16315279 2005
Human prion protein with valine 129 prevents expression of variant CJD phenotype. 61 6
15539564 2004
RNA molecules stimulate prion protein conversion. 61 6
14562104 2003
Disease-associated F198S mutation increases the propensity of the recombinant prion protein for conformational conversion to scrapie-like form. 61 6
12372829 2002
Huntington disease phenocopy is a familial prion disease. 61 6
11593450 2001
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease. 61 6
11709001 2001
Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study. 61 6
10953183 2000
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. 6 61
10506086 1999
Neurological illness in transgenic mice expressing a prion protein with an insertional mutation. 6 61
9883727 1998
Different patterns of truncated prion protein fragments correlate with distinct phenotypes in P102L Gerstmann-Sträussler-Scheinker disease. 6 61
9653185 1998
A transmembrane form of the prion protein in neurodegenerative disease. 61 6
9452375 1998
A prion disease with a novel 96-base pair insertional mutation in the prion protein gene. 61 6
8618679 1996
Prion disease (PrP-A117V) presenting with ataxia instead of dementia. 6 61
7501157 1995
Fatal familial insomnia and the widening spectrum of prion diseases. 6 61
8137139 1993
Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies. 6 61
1352724 1992
Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases. 61 6
1684089 1991
Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. 6 61
1677164 1991
Upregulation of miRNA hsa-miR-342-3p in experimental and idiopathic prion disease. 47 61
19712440 2009
Novel prion protein gene mutation presenting with subacute PSP-like syndrome. 6
17353478 2007
Prion protein (PRNP) genotypes in frontotemporal lobar degeneration syndromes. 6
16969862 2006
The prion gene is associated with human long-term memory. 6
15987701 2005
PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. 6
15824374 2005
Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP. 6
15557533 2004
Prion protein codon 129 polymorphism and risk of Alzheimer disease. 6
15277640 2004
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease. 6
14970845 2004
Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene. 6
14610142 2003
Absence of association between codon 129/219 polymorphisms of the prion protein gene and Alzheimer's disease in Japan. 6
14520676 2003
Early cognitive decline is associated with prion protein codon 129 polymorphism. 6
12891686 2003
Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK. 6
12867116 2003
Novel prion protein insert mutation associated with prolonged neurodegenerative illness. 6
12771252 2003
PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease. 6
12601712 2003
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L. 6
11967261 2002
Biochemical and structural studies of the prion protein polymorphism. 6
11749972 2001
Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease. 6
11840201 2001
Increased incidence of sporadic Creutzfeldt-Jakob disease on the island of Crete associated with a high rate of PRNP 129-methionine homozygosity in the local population. 6
11506406 2001
Sporadic Creutzfeldt-Jakob disease in a young Dutch valine homozygote: atypical molecular phenotype. 6
11506411 2001
Prion protein gene polymorphism and Alzheimer's disease: one modulatory trait of cognitive decline? 6
11488277 2001
Polymorphism at codon 129 of the prion protein gene is not associated with sporadic AD. 6
10953203 2000
Accumulation of protease-resistant prion protein (PrP) and apoptosis of cerebellar granule cells in transgenic mice expressing a PrP insertional mutation. 6
10805813 2000
Novel PRNP sequence variant associated with familial encephalopathy. 6
10581485 1999
The genetics of prions--a contradiction in terms? 6
10437852 1999

Variations for Prion Disease

ClinVar genetic disease variations for Prion Disease:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRNP NM_000311.5(PRNP):c.398C>T (p.Ala133Val) SNV Pathogenic 13414 rs74315415 GRCh37: 20:4680264-4680264
GRCh38: 20:4699618-4699618
2 PRNP NM_000311.5(PRNP):c.350C>T (p.Ala117Val) SNV Pathogenic 13396 rs74315402 GRCh37: 20:4680216-4680216
GRCh38: 20:4699570-4699570
3 PRNP NM_000311.5(PRNP):c.593T>C (p.Phe198Ser) SNV Pathogenic 13401 rs74315405 GRCh37: 20:4680459-4680459
GRCh38: 20:4699813-4699813
4 PRNP NM_000311.5(PRNP):c.650A>G (p.Gln217Arg) SNV Pathogenic 13402 rs74315406 GRCh37: 20:4680516-4680516
GRCh38: 20:4699870-4699870
5 PRNP NM_000311.5(PRNP):c.314C>T (p.Pro105Leu) SNV Pathogenic 13404 rs11538758 GRCh37: 20:4680180-4680180
GRCh38: 20:4699534-4699534
6 PRNP NM_000311.5(PRNP):c.560A>G (p.His187Arg) SNV Pathogenic 13412 rs74315413 GRCh37: 20:4680426-4680426
GRCh38: 20:4699780-4699780
7 PRNP NM_000311.5(PRNP):c.313C>T (p.Pro105Ser) SNV Pathogenic 13415 rs74315414 GRCh37: 20:4680179-4680179
GRCh38: 20:4699533-4699533
8 PRNP NM_000311.5(PRNP):c.154_177[(6_13)] Microsatellite Pathogenic 13394 rs193922906 GRCh37: 20:4680026-4680049
GRCh38: 20:4699379-4699380
9 PRNP NM_000311.5(PRNP):c.392G>T (p.Gly131Val) SNV Pathogenic 13410 rs74315410 GRCh37: 20:4680258-4680258
GRCh38: 20:4699612-4699612
10 PRNP NM_000311.5(PRNP):c.679C>T (p.Gln227Ter) SNV Pathogenic 88927 rs17852079 GRCh37: 20:4680545-4680545
GRCh38: 20:4699899-4699899
11 PRNP NM_000311.5(PRNP):c.633G>C (p.Glu211Asp) SNV Pathogenic 88922 rs398122413 GRCh37: 20:4680499-4680499
GRCh38: 20:4699853-4699853
12 PRNP NM_000311.5(PRNP):c.305C>T (p.Pro102Leu) SNV Pathogenic 13395 rs74315401 GRCh37: 20:4680171-4680171
GRCh38: 20:4699525-4699525
13 PRNP NM_000311.5(PRNP):c.385A>G (p.Met129Val) SNV risk factor 13397 rs1799990 GRCh37: 20:4680251-4680251
GRCh38: 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 disease hsa05020

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

(show all 46)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
Show member pathways
12.33 TNF IL6 IL1B CASP3
Show member pathways
12.32 TNF SOD1 IL6 IL1B
Show member pathways
12 12.17 TNF IL6 IL1B CASP3
Show member pathways
14 12.13 TNF IL6 IL1B CYCS CASP3
Show member pathways
16 11.99 TNF IL6 IL1B CASP3
18 11.94 TNF IL6 IL1B HSPA8
19 11.92 TNF IL6 IL1B CASP3
20 11.87 TNF IL6 IL1B CASP3
21 11.84 TNF IL6 IL1B CASP3
Show member pathways
11.75 TNF IL6 IL1B
23 11.74 TNF IL6 IL1B
25 11.69 TNF IL6 IL1B CASP3
26 11.68 SOD1 CYCS CASP3
27 11.67 MAPT IL6 CASP3
Show member pathways
11.65 TNF IL6 IL1B
29 11.65 TNF IL6 IL1B
Show member pathways
11.62 SOD1 HSPA8 HSPA5
31 11.54 TNF IL6 IL1B
32 11.53 TNF IL6 IL1B
33 11.52 TNF IL6 FYN
34 11.5 IL6 CYCS CASP3
36 11.48 TNF IL6 IL1B
37 11.39 TNF SOD1 CASP3
39 11.38 TNF IL6 IL1B
40 11.35 PRKN HSPA8 HSPA5
41 11.34 TNF IL6 IL1B
42 11.3 TNF IL6 IL1B
43 11.29 SNCA PRKN FYN
44 11.27 TNF IL6 IL1B
45 11.21 TNF IL6 IL1B
46 11.12 SOD1 CYCS CASP3

GO Terms for Prion Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.1 STIP1 SPRN SOD1 SNCA PRNP PRKN
2 mitochondrion GO:0005739 10.03 SOD1 SNCA PRKN MAPT LRRK2 HSPA5
3 extracellular space GO:0005615 10.02 TNF SOD1 SNCA MSMB MIR342 LRRK2
4 extracellular region GO:0005576 10.02 TNF SPRN SOD1 SNCA PRND MSMB
5 protein-containing complex GO:0032991 9.93 STIP1 SOD1 SNCA PRKN HSPA5 CAV1
6 dendrite GO:0030425 9.89 PRNP MAPT LRRK2 HSPA8 FYN
7 lysosome GO:0005764 9.88 SOD1 SNCA LRRK2 IL1B HSPA8
8 neuronal cell body GO:0043025 9.8 SOD1 SNCA MAPT LRRK2 CASP3
9 inclusion body GO:0016234 9.33 SNCA PRNP LRRK2
10 terminal bouton GO:0043195 9.26 SNCA PRNP LRRK2 HSPA8
11 membrane raft GO:0045121 9.17 TNF PRNP MAPT LRRK2 FYN CAV1

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

(show top 50) (show all 59)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.12 TNF PRKN IL6 IL1B CAV1
2 positive regulation of apoptotic process GO:0043065 10.06 TNF SOD1 SNCA IL6 CASP3
3 negative regulation of apoptotic process GO:0043066 10.05 SOD1 SNCA PRNP IL6 HSPA5 CASP3
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.95 TNF IL6 IL1B CAV1
5 negative regulation of neuron apoptotic process GO:0043524 9.92 SOD1 SNCA PRKN FYN
6 response to oxidative stress GO:0006979 9.91 SOD1 PRNP PRKN LRRK2
7 positive regulation of protein ubiquitination GO:0031398 9.89 LRRK2 HSPA5 CAV1
8 regulation of autophagy GO:0010506 9.89 PRKN MAPT LRRK2
9 regulation of insulin secretion GO:0050796 9.89 TNF IL6 IL1B
10 cellular response to starvation GO:0009267 9.89 LRRK2 HSPA8 CAV1
11 apoptotic signaling pathway GO:0097190 9.88 TNF CAV1 CASP3
12 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.88 TNF IL6 FYN
13 positive regulation of protein binding GO:0032092 9.87 PRKN LRRK2 CAV1
14 cellular response to drug GO:0035690 9.87 PRNP IL1B HSPA5
15 response to glucocorticoid GO:0051384 9.87 TNF IL6 CASP3
16 activation of MAPK activity GO:0000187 9.87 TNF SOD1 LRRK2 IL1B
17 learning or memory GO:0007611 9.86 PRNP MAPT CASP3
18 negative regulation of neuron death GO:1901215 9.85 SNCA PRKN LRRK2
19 positive regulation of interleukin-8 production GO:0032757 9.85 TNF IL6 IL1B
20 response to hydrogen peroxide GO:0042542 9.85 SOD1 FYN CASP3
21 positive regulation of neuron apoptotic process GO:0043525 9.84 TNF PRNP CASP3
22 protein destabilization GO:0031648 9.82 SNCA PRNP PRKN
23 positive regulation of phagocytosis GO:0050766 9.81 TNF SOD1 IL1B
24 cellular response to oxidative stress GO:0034599 9.81 SOD1 SNCA LRRK2 CYCS
25 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.79 TNF IL1B FYN
26 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.78 TNF SNCA IL6 CAV1
27 regulation of protein stability GO:0031647 9.76 PRKN LRRK2 HSPA8 CASP3
28 microglial cell activation GO:0001774 9.73 TNF SNCA MAPT
29 negative regulation of protein phosphorylation GO:0001933 9.73 SNCA PRNP PRKN LRRK2
30 cytokine-mediated signaling pathway GO:0019221 9.73 TNF IL6 IL1B HSPA8 FYN CASP3
31 positive regulation of programmed cell death GO:0043068 9.72 TNF LRRK2
32 negative regulation of oxidative stress-induced cell death GO:1903202 9.72 PRKN FYN
33 regulation of establishment of endothelial barrier GO:1903140 9.72 TNF IL1B
34 dendritic spine maintenance GO:0097062 9.72 PRNP FYN
35 cellular response to unfolded protein GO:0034620 9.72 PRKN HSPA8 HSPA5
36 regulation of mitochondrial fission GO:0090140 9.7 MAPT LRRK2
37 intracellular distribution of mitochondria GO:0048312 9.7 MAPT LRRK2
38 negative regulation of lipid storage GO:0010888 9.7 TNF IL6
39 negative regulation of neurogenesis GO:0050768 9.7 TNF IL6 IL1B
40 positive regulation of cell adhesion molecule production GO:0060355 9.69 IL1B CAV1
41 regulation of locomotion GO:0040012 9.68 SNCA LRRK2
42 protein localization to mitochondrion GO:0070585 9.68 PRKN LRRK2
43 regulation of reactive oxygen species metabolic process GO:2000377 9.67 TNF SNCA PRKN
44 cellular response to organic cyclic compound GO:0071407 9.67 TNF LRRK2 IL1B CASP3
45 positive regulation of protein localization to membrane GO:1905477 9.66 PRKN FYN
46 dopamine uptake involved in synaptic transmission GO:0051583 9.65 SNCA PRKN
47 positive regulation of fever generation GO:0031622 9.65 TNF IL1B
48 negative regulation of dendritic spine maintenance GO:1902951 9.63 PRNP FYN
49 sequestering of triglyceride GO:0030730 9.63 TNF IL1B
50 luteolysis GO:0001554 9.62 HSPA5 CASP3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.97 TNF SOD1 SNCA PRNP PRKN MAPT
2 protein-containing complex binding GO:0044877 9.85 PRNP PRKN FYN CAV1 CASP3
3 heat shock protein binding GO:0031072 9.69 PRKN HSPA8 HSPA5
4 G protein-coupled receptor binding GO:0001664 9.67 PRKN HSPA8 FYN
5 ion channel binding GO:0044325 9.67 PRNP LRRK2 FYN CAV1
6 Hsp70 protein binding GO:0030544 9.58 STIP1 SNCA PRKN
7 copper ion binding GO:0005507 9.56 SOD1 SNCA PRNP PRND
8 enzyme binding GO:0019899 9.56 SOD1 SNCA PRKN MAPT HSPA8 HSPA5
9 tubulin binding GO:0015631 9.55 PRNP PRKN MAPT LRRK2 FYN
10 cuprous ion binding GO:1903136 9.48 SNCA PRNP
11 type 5 metabotropic glutamate receptor binding GO:0031802 9.43 PRNP FYN
12 chaperone binding GO:0051087 9.17 STIP1 SOD1 PRNP PRKN MAPT HSPA8

Sources for Prion Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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