Parkinson's Disease Pathway KEGG

Preferred Label : Parkinson's Disease Pathway KEGG;

NCIt synonyms : Parkinsons Disease Pathway;

NCIt related terms : Parkinson's Disease;

Alternative definition : KEGG: Parkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL1 (ubiquitin carboxy-terminal hydrolase L1), parkin, DJ1 (a parkin-associated protein involved with oxidative stress), and PINK1 (a putative serine threonine kinase) are known to cause early-onset PD. Mutations or altered expression of these proteins contributes to PD pathogenesis through common mechanisms that result in proteasome dysfunction, mitochondrial impairment, and oxidative stress. Point mutations in alpha-synuclein and the recently described functional duplication of alpha-synuclein lead to excessive intracellular accumulation and protofibril formation. Decrease in the amount of soluble alpha-synuclein tends to increase free cytoplasmic dopamine and the formation of reactive oxygen species (ROS). Indeed, formation of protofibrils or aggregates and Lewy bodies (LBs) diminishes the availability of the physiological forms of alpha-synuclein, favoring an increase in TH (tyrosine hydroxylase) and DAT (dopamine transporter), but diminishes formation of vesicles and neuronal plasticity. Modification of parkin and UCHL1 are associated with the ubiquitin-proteasome system pathway and may increase proteotoxic stress. Mutations in parkin, DJ1, and PINK1 may alter mitochondrial activity, potentially impairing proteasomal function. Environmental toxins such as N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and rotenone can cause mitochondrial dysfunction and oxidative stress.;

NCIt note : This pathway originally was KEGG_ID hsa05020.;

KEGG ID : hsa05012;

Details

Origin ID

C38845;

UMLS CUI

C1521736;

Automatic exact mappings (from CISMeF team)
- Disease Parkinson's [MedDRA LLT]
- Parkinson disease [ORDO Disease]
- Parkinson disease [Radlex concept]
- Parkinson disease [PASCAL descriptor]
- Parkinson disease [ICD-11 Subcategory]
- Parkinson disease [OMIM phenotypic series]
- Parkinson's disease [MedDRA Preferred Term]
- Parkinson's disease [ICD-10 category]
- Parkinson's disease [DO Concept]
- Parkinson's disease [LOINC component]
- Parkinson's disease [HPMULTI term]
- Parkinson's disease [ICD-9 code]
- Parkinson's disease (disorder) [SNOMED CT concept]
- parkinson disease [MeSH concept]
- parkinson disease [MeSH Descriptor]
- parkinson's disease [MedlinePlus Topic]
Semantic type(s)
- Functional Concept [UMLS semantic type]
has_gene_product_element
- 26S Proteasome Non-ATPase Regulatory Subunit 3 [NCIt concept]
- 26S Proteasome Regulatory Subunit 6A [NCIt concept]
- ADP/ATP Translocase 1 [NCIt concept]
- ADP/ATP Translocase 2 [NCIt concept]
- ADP/ATP Translocase 3 [NCIt concept]
- ATP Synthase Subunit Beta, Mitochondrial [NCIt concept]
- ATP Synthase Subunit Epsilon, Mitochondrial [NCIt concept]
- ATP Synthase Subunit a [NCIt concept]
- Activated Caspase-9 [NCIt concept]
- Adenosine Receptor A2a [NCIt concept]
- Adenosine Receptor A2b [NCIt concept]
- Alpha-Synuclein [NCIt concept]
- Apoptotic Protease-Activating Factor 1 [NCIt concept]
- Caspase-3 [NCIt concept]
- Caspase-9 [NCIt concept]
- Chromaffin Granule Amine Transporter [NCIt concept]
- Cytochrome C [NCIt concept]
- Cytochrome C Oxidase Subunit 1 [NCIt concept]
- Cytochrome C Oxidase Subunit 6A2, Mitochondrial [NCIt concept]
- Cytochrome C Oxidase Subunit 6C [NCIt concept]
- Cytochrome C Oxidase Subunit 7A-Related Protein, Mitochondrial [NCIt concept]
- Cytochrome b-c1 Complex Subunit 6, Mitochondrial [NCIt concept]
- D(1A) Dopamine Receptor [NCIt concept]
- D(2) Dopamine Receptor [NCIt concept]
- E3 Ubiquitin-Protein Ligase Parkin [NCIt concept]
- Guanine Nucleotide-Binding Protein G(i) Subunit Alpha-1 [NCIt concept]
- Guanine Nucleotide-Binding Protein G(i) Subunit Alpha-2 [NCIt concept]
- Guanine Nucleotide-Binding Protein G(k) Subunit Alpha [NCIt concept]
- Insulin [NCIt concept]
- Kinesin Heavy Chain Isoform 5A [NCIt concept]
- Kinesin-1 Heavy Chain [NCIt concept]
- Peptidyl-Prolyl Cis-Trans Isomerase F, Mitochondrial [NCIt concept]
- Polyubiquitin-B [NCIt concept]
- Protein DJ-1 [NCIt concept]
- Septin-5 [NCIt concept]
- Serine/Threonine-Protein Kinase PINK1, Mitochondrial [NCIt concept]
- Sodium-Dependent Dopamine Transporter [NCIt concept]
- Succinate Dehydrogenase Cytochrome b560 Subunit, Mitochondrial [NCIt concept]
- Succinate Dehydrogenase [Ubiquinone] Cytochrome B Small Subunit, Mitochondrial [NCIt concept]
- Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial [NCIt concept]
- Succinate Dehydrogenase [Ubiquinone] Iron-Sulfur Subunit, Mitochondrial [NCIt concept]
- Synaptic Vesicular Amine Transporter [NCIt concept]
- Synphilin-1 [NCIt concept]
- Tubulin Beta-4A Chain [NCIt concept]
- Tyrosine 3-Monooxygenase [NCIt concept]
- Ubiquitin Carboxyl-Terminal Hydrolase Isozyme L1 [NCIt concept]
- Ubiquitin-Conjugating Enzyme E2 L3 [NCIt concept]
- Ubiquitin-Like Modifier-Activating Enzyme 1 [NCIt concept]
- Voltage-Dependent Anion-Selective Channel Protein 1 [NCIt concept]
- Voltage-Dependent Anion-Selective Channel Protein 2 [NCIt concept]
- Voltage-Dependent Anion-Selective Channel Protein 3 [NCIt concept]
pathway_has_gene_element
- ADORA2A wt Allele [NCIt concept]
- APAF1 wt Allele [NCIt concept]
- ATP5F1B wt Allele [NCIt concept]
- ATP5F1E wt Allele [NCIt concept]
- CASP3 wt Allele [NCIt concept]
- CASP9 wt Allele [NCIt concept]
- COX6A2 wt Allele [NCIt concept]
- COX6C wt Allele [NCIt concept]
- COX7A2L wt Allele [NCIt concept]
- CYCS wt Allele [NCIt concept]
- DRD1 wt Allele [NCIt concept]
- DRD2 wt Allele [NCIt concept]
- GNAI1 wt Allele [NCIt concept]
- GNAI2 wt Allele [NCIt concept]
- GNAI3 wt Allele [NCIt concept]
- INS wt Allele [NCIt concept]
- KIF5A wt Allele [NCIt concept]
- KIF5B wt Allele [NCIt concept]
- MT-ATP6 wt Allele [NCIt concept]
- MT-CO1 wt Allele [NCIt concept]
- PARK7 wt Allele [NCIt concept]
- PINK1 wt Allele [NCIt concept]
- PPIF wt Allele [NCIt concept]
- PRKN wt Allele [NCIt concept]
- PSMC3 wt Allele [NCIt concept]
- PSMD3 wt Allele [NCIt concept]
- SDHA wt Allele [NCIt concept]
- SDHB wt Allele [NCIt concept]
- SDHC wt Allele [NCIt concept]
- SDHD wt Allele [NCIt concept]
- SEPTIN5 wt Allele [NCIt concept]
- SLC18A1 wt Allele [NCIt concept]
- SLC18A2 wt Allele [NCIt concept]
- SLC25A4 wt Allele [NCIt concept]
- SLC25A5 wt Allele [NCIt concept]
- SLC25A6 wt Allele [NCIt concept]
- SLC6A3 wt Allele [NCIt concept]
- SNCA wt Allele [NCIt concept]
- SNCAIP wt Allele [NCIt concept]
- TH wt Allele [NCIt concept]
- TUBB4A wt Allele [NCIt concept]
- UBA1 wt Allele [NCIt concept]
- UBB wt Allele [NCIt concept]
- UBE2L3 wt Allele [NCIt concept]
- UCHL1 wt Allele [NCIt concept]
- UQCRH wt Allele [NCIt concept]
- VDAC1 wt Allele [NCIt concept]
- VDAC2 wt Allele [NCIt concept]
- VDAC3 wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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