Prion Disease Pathway

Preferred Label : Prion Disease Pathway;

NCIt related terms : Prion Disease;

Alternative definition : KEGG: 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.;

NCIt note : This pathway originally was KEGG_ID hsa05060.;

KEGG ID : hsa05020;

Details

Origin ID

C38853;

UMLS CUI

C3536911;

Automatic exact mappings (from CISMeF team)
- Human prion disease [ORDO Disease]
- Prion disease [PASCAL descriptor]
- Prion disease [MedDRA Preferred Term]
- Prion disease (disorder) [SNOMED CT concept]
- creutzfeldt-jakob disease [MedlinePlus Topic]
- degenerative nerve diseases [MedlinePlus Topic]
- prion disease [DO Concept]
- prion disease [Blood Transfusion thesaurus concept]
- prion diseases [MeSH concept]
- prion diseases [MeSH Descriptor]
Semantic type(s)
- Pathologic Function [UMLS semantic type]
UMLS correspondences (same concept)
- Prion disease [MedDRA Preferred Term]
has_gene_product_element
- 26S Proteasome Non-ATPase Regulatory Subunit 3 [NCIt concept]
- 26S Proteasome Regulatory Subunit 6A [NCIt concept]
- 78 kDa Glucose-Regulated Protein [NCIt concept]
- ATP Synthase Subunit a [NCIt concept]
- Apoptosis Regulator BAX [NCIt concept]
- Apoptosis Regulator Bcl-2 [NCIt concept]
- C-C Motif Chemokine 5 [NCIt concept]
- Caveolin-3 [NCIt concept]
- Complement C1q Subcomponent Subunit A [NCIt concept]
- Complement C1q Subcomponent Subunit B [NCIt concept]
- Complement C1q Subcomponent Subunit C [NCIt concept]
- Complement Component C6 [NCIt concept]
- Complement Component C8 Alpha Chain [NCIt concept]
- Complement Component C8 Beta Chain [NCIt concept]
- Complement Component C8 Gamma Chain [NCIt concept]
- Complement Component C9 [NCIt concept]
- Cytochrome B-245 Heavy Chain [NCIt concept]
- Cytochrome B-245 Light Chain [NCIt concept]
- Cytochrome C Oxidase Subunit 6A2, Mitochondrial [NCIt concept]
- Dual Specificity Mitogen-Activated Protein Kinase Kinase 1 [NCIt concept]
- Dual Specificity Mitogen-Activated Protein Kinase Kinase 2 [NCIt concept]
- ETS Domain-Containing Protein Elk-1 [NCIt concept]
- Early Growth Response Protein 1 [NCIt concept]
- Glutamate Receptor Ionotropic, NMDA 2D [NCIt concept]
- Heat Shock 70 kDa Protein 1A/1B [NCIt concept]
- Interleukin-1 Alpha [NCIt concept]
- Interleukin-1 Beta [NCIt concept]
- Interleukin-6 [NCIt concept]
- Kinesin Heavy Chain Isoform 5A [NCIt concept]
- Kinesin-1 Heavy Chain [NCIt concept]
- Major Prion Protein [NCIt concept]
- Mitogen-Activated Protein Kinase 1 [NCIt concept]
- Mitogen-Activated Protein Kinase 3 [NCIt concept]
- Neural Cell Adhesion Molecule 1 [NCIt concept]
- Neural Cell Adhesion Molecule 2 [NCIt concept]
- Neurogenic Locus Notch Homolog Protein 1 [NCIt concept]
- Neutrophil Cytosol Factor 1 [NCIt concept]
- Neutrophil Cytosol Factor 2 [NCIt concept]
- Neutrophil Cytosol Factor 4 [NCIt concept]
- Ras-Related C3 Botulinum Toxin Substrate 2 [NCIt concept]
- Ryanodine Receptor 2 [NCIt concept]
- Stress-Induced-Phosphoprotein 1 [NCIt concept]
- Superoxide Dismutase [Cu-Zn] [NCIt concept]
- Tubulin Beta-4A Chain [NCIt concept]
- Tyrosine-Protein Kinase Fyn [NCIt concept]
- Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1C [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Alpha [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Beta [NCIt concept]
- cAMP-Dependent Protein Kinase Catalytic Subunit Gamma [NCIt concept]
pathway_has_gene_element
- BAX wt Allele [NCIt concept]
- BCL2 wt Allele [NCIt concept]
- C1QA wt Allele [NCIt concept]
- C1QB wt Allele [NCIt concept]
- C1QC wt Allele [NCIt concept]
- C6 wt Allele [NCIt concept]
- C8A wt Allele [NCIt concept]
- C8B wt Allele [NCIt concept]
- C8G wt Allele [NCIt concept]
- C9 wt Allele [NCIt concept]
- CACNA1C wt Allele [NCIt concept]
- CAV3 wt Allele [NCIt concept]
- CCL5 wt Allele [NCIt concept]
- COX6A2 wt Allele [NCIt concept]
- CYBA wt Allele [NCIt concept]
- CYBB wt Allele [NCIt concept]
- EGR1 wt Allele [NCIt concept]
- ELK1 wt Allele [NCIt concept]
- FYN wt Allele [NCIt concept]
- GRIN2D wt Allele [NCIt concept]
- HSPA1A wt Allele [NCIt concept]
- HSPA1B wt Allele [NCIt concept]
- HSPA5 wt Allele [NCIt concept]
- IL1A wt Allele [NCIt concept]
- IL1B wt Allele [NCIt concept]
- IL6 wt Allele [NCIt concept]
- KIF5A wt Allele [NCIt concept]
- KIF5B wt Allele [NCIt concept]
- MAP2K1 wt Allele [NCIt concept]
- MAP2K2 wt Allele [NCIt concept]
- MAPK1 wt Allele [NCIt concept]
- MAPK3 wt Allele [NCIt concept]
- MT-ATP6 wt Allele [NCIt concept]
- NCAM1 wt Allele [NCIt concept]
- NCAM2 wt Allele [NCIt concept]
- NCF1 wt Allele [NCIt concept]
- NCF4 wt Allele [NCIt concept]
- NOTCH1 wt Allele [NCIt concept]
- PRKACA wt Allele [NCIt concept]
- PRKACB wt Allele [NCIt concept]
- PRKACG wt Allele [NCIt concept]
- PRNP wt Allele [NCIt concept]
- PSMC3 wt Allele [NCIt concept]
- PSMD3 wt Allele [NCIt concept]
- RAC2 wt Allele [NCIt concept]
- RYR2 wt Allele [NCIt concept]
- SOD1 wt Allele [NCIt concept]
- STIP1 wt Allele [NCIt concept]
- TUBB4A wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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