MCID: PRK039
MIFTS: 57

Parkinsonism

Categories: Neuronal diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Parkinsonism

MalaCards integrated aliases for Parkinsonism:

Name: Parkinsonism 11 75 53 5 14 33
Paralysis Agitans Syndrome 33
Idiopathic Parkinsonism 33
Parkinsonian Syndrome 33
Primary Parkinsonism 33
Trembling Paralysis 33
Paralysis Agitans 33
Parkinsonism-Plus 5
Shaking Paralysis 33
Shaking Palsy 33

Classifications:



Summaries for Parkinsonism

Disease Ontology: 11 A movement disorder that is characterized by disturbances of balance, gait and posture.

MalaCards based summary: Parkinsonism, also known as paralysis agitans syndrome, is related to amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 and dystonia 12. An important gene associated with Parkinsonism is GRN (Granulin Precursor), and among its related pathways/superpathways are Neuroscience and Alpha-synuclein signaling. The drugs Varenicline and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, subthalamic nucleus and spinal cord, and related phenotypes are nervous system and homeostasis/metabolism

Wikipedia: 75 Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia (slowed movements), rigidity,... more...

Related Diseases for Parkinsonism

Diseases in the Parkinsonism family:

Atp13a2-Related Parkinsonism

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

(show top 50) (show all 1150)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 33.3 TRPM7 SNCA PARK7 MAPT LRRK2
2 dystonia 12 33.2 TAF1 SLC39A14 SLC30A10 PRKN PINK1 PARK7
3 perry syndrome 33.0 SNCA MAPT GRN ATP13A2
4 frontotemporal dementia 33.0 SNCA PRKN PINK1 PARK7 MAPT LRRK2
5 parkinson disease 2, autosomal recessive juvenile 32.8 SNCA PRKN PINK1 PARK7 LRRK2
6 vascular parkinsonism 32.8 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
7 multiple system atrophy 1 32.7 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
8 postencephalitic parkinson disease 32.7 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
9 kufor-rakeb syndrome 32.7 SNCA PRKN PINK1 PARK7 LRRK2 GBA1
10 parkinson disease, late-onset 32.6 TAF1 SNCA SLC6A3 PRKN POLG PINK1
11 dementia, lewy body 32.5 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
12 hypermanganesemia with dystonia 1 32.4 SLC39A14 SLC30A10
13 supranuclear palsy, progressive, 1 32.4 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
14 amyotrophic lateral sclerosis 1 32.4 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
15 von economo's disease 32.3 SNCA SLC6A3 LRRK2
16 neurodegeneration with brain iron accumulation 32.3 SNCA SLC6A3 SLC39A14 PRKN PINK1 PARK7
17 tremor 32.2 SNCA PRKN MAPT LRRK2 GBA1
18 spinocerebellar ataxia 17 32.2 SLC6A3 ATXN3 ATXN2
19 parkinson disease 1, autosomal dominant 32.2 SNCA LRRK2 GBA1 ATXN2
20 hypermanganesemia with dystonia 32.1 SLC39A14 SLC30A10
21 striatonigral degeneration 32.1 SNCA SLC6A3 LRRK2
22 parkinson disease 6, autosomal recessive early-onset 32.1 PINK1 PARK7 MT-ND6
23 dementia 31.7 TRPM7 SNCA SLC6A3 PRKN PINK1 PARK7
24 toxic encephalopathy 31.5 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
25 movement disease 31.4 TBC1D24 TAF1 SNCA SLC6A3 PRKN POLG
26 essential tremor 31.4 SNCA SLC6A3 PRKN MAPT LRRK2 GBA1
27 gaucher's disease 31.3 SNCA PRKN PINK1 PARK7 LRRK2 GBA1
28 dystonia 31.3 TBC1D24 TAF1 SNCA SLC6A3 SLC39A14 SLC30A10
29 normal pressure hydrocephalus 31.3 SNCA SLC6A3 MAPT
30 gaucher disease, type i 31.3 SNCA PRKN PINK1 PARK7 LRRK2 GBA1
31 motor neuron disease 31.3 SNCA PRKN MAPT GRN ATXN2
32 huntington disease 31.3 TAF1 SNCA SLC6A3 MAPT ATXN3
33 choreatic disease 31.3 SNCA SLC6A3 PRKN POLG PINK1 PARK7
34 hereditary ataxia 31.2 SNCA PRKN POLG ATXN3 ATXN2 ATP1A3
35 rem sleep behavior disorder 31.2 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
36 alzheimer disease, familial, 1 31.2 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
37 aphasia 31.2 SNCA MAPT LRRK2 GRN
38 mutism 31.2 SLC6A3 MAPT GRN ATP1A3
39 autosomal dominant cerebellar ataxia 31.2 SNCA SLC6A3 PRKN POLG PINK1 PARK7
40 akinetic mutism 31.1 SNCA SLC6A3 MAPT
41 sleep disorder 31.1 SNCA SLC6A3 LRRK2 GBA1
42 mild cognitive impairment 31.0 SNCA SLC6A3 MAPT
43 pick disease of brain 31.0 SNCA SLC6A3 PRKN PINK1 PARK7 MAPT
44 early-onset parkinson's disease 31.0 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
45 focal dystonia 31.0 TAF1 SLC6A3 PRKN ATP1A3
46 machado-joseph disease 30.9 SNCA SLC6A3 PRKN POLG LRRK2 ATXN3
47 cervical dystonia 30.9 TAF1 SLC6A3 ATP1A3
48 cerebellar disease 30.9 SNCA PRKN POLG PINK1 MAPT LRRK2
49 peripheral nervous system disease 30.9 SNCA PRKN POLG PINK1 PARK7 MT-ND6
50 polyneuropathy 30.9 SNCA PRKN POLG PARK7

Graphical network of the top 20 diseases related to Parkinsonism:



Diseases related to Parkinsonism

Symptoms & Phenotypes for Parkinsonism

MGI Mouse Phenotypes related to Parkinsonism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.39 ATP13A2 ATP1A3 ATXN2 ATXN3 GBA1 GRN
2 homeostasis/metabolism MP:0005376 10.36 ATP13A2 ATP1A3 ATXN2 ATXN3 GBA1 GRN
3 growth/size/body region MP:0005378 10.27 ATP1A3 ATXN2 GBA1 GRN MAPT MT-ND6
4 cellular MP:0005384 10.2 ATP13A2 GBA1 GRN LRRK2 MAPT MT-ND6
5 behavior/neurological MP:0005386 10.16 ATP13A2 ATP1A3 ATXN2 ATXN3 GBA1 GRN
6 no phenotypic analysis MP:0003012 10 GRN LRRK2 MAPT PINK1 POLG PRKN
7 pigmentation MP:0001186 9.95 ATP13A2 GBA1 GRN LRRK2 POLG TRPM7
8 mortality/aging MP:0010768 9.83 ATP1A3 ATXN2 GBA1 GRN LRRK2 MAPT
9 taste/olfaction MP:0005394 9.46 MAPT PINK1 SLC6A3 SNCA
10 integument MP:0010771 9.32 ATP1A3 GBA1 GRN LRRK2 MAPT POLG

Drugs & Therapeutics for Parkinsonism

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Olanzapine Approved, Investigational Phase 4 132539-06-1 135398745 4585
5
Amantadine Approved Phase 4 768-94-5 2130
6
Zoledronic acid Approved Phase 4 118072-93-8 68740
7
Iodine Approved, Investigational Phase 4 7553-56-2 807
8
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
9
Droxidopa Approved, Investigational Phase 4 23651-95-8 443940 92974
10
Cadexomer iodine Experimental Phase 4 94820-09-4
11 Cholinergic Agents Phase 4
12 Nicotinic Agonists Phase 4
13 Neurotransmitter Agents Phase 4
14 Dopamine Agents Phase 4
15 Gastrointestinal Agents Phase 4
16 Anti-Infective Agents Phase 4
17 Antipsychotic Agents Phase 4
18
Quetiapine Fumarate Phase 4 111974-72-2
19 Psychotropic Drugs Phase 4
20 Antidepressive Agents Phase 4
21 Dopamine Antagonists Phase 4
22 Antiemetics Phase 4
23 Serotonin Uptake Inhibitors Phase 4
24 Antiviral Agents Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Analgesics Phase 4
27 Radiopharmaceuticals Phase 4
28 3-Iodobenzylguanidine Phase 4
29 Pharmaceutical Solutions Phase 4
30 Hormones Phase 4
31 Anticonvulsants Phase 4
32 Calcium, Dietary Phase 4
33 calcium channel blockers Phase 4
34 Antiparkinson Agents Phase 4
35
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
36
Calcium Nutraceutical Phase 4 7440-70-2 271
37
Carbon monoxide Approved, Investigational Phase 3 630-08-0 281
38 Dopamine agonists Phase 2, Phase 3
39
Levodopa Approved Phase 2 59-92-7, 63-84-3 6047
40
Clonazepam Approved, Illicit Phase 2 1622-61-3 2802
41
Pramipexole Approved, Investigational Phase 2 104632-26-0, 104632-25-9, 104632-28-2 4885 119570 59868
42
Licorice Approved Phase 1, Phase 2
43
Turmeric Approved, Experimental, Investigational Phase 1, Phase 2
44
Ethanol Approved Phase 2 64-17-5 702
45 Fluorodeoxyglucose F18 Phase 2
46 GABA Modulators Phase 2
47 Fluorides Phase 2
48 Antioxidants Phase 2
49 Protective Agents Phase 2
50 2beta-carbomethoxy-3beta-(4-iodophenyl)tropane Phase 2

Interventional clinical trials:

(show top 50) (show all 130)
# Name Status NCT ID Phase Drugs
1 Effect of Varenicline on Smoking Cessation in Patients With Schizophrenia: Evaluation of Antipsychotic Drug-Induced Neurological Symptoms as Correlates of Response Unknown status NCT03495024 Phase 4 Varenicline
2 A Multicentre, Randomised, Open Label, Comparative Phase 4 Trial to Assess Changes in Clinical Management After DaTSCAN Imaging of Subjects With Clinically Uncertain Parkinsonism in a General Neurologist Setting. Completed NCT00382967 Phase 4
3 Treatment of Agitation/Psychosis in Dementia/Parkinsonism (TAP/DAP) Completed NCT00043849 Phase 4 Quetiapine
4 A Randomized Controlled Trial Study of Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Acute Dystonia or Parkinsonism Completed NCT00331825 Phase 4 Risperidone and Olanzapine
5 The Effect of Amantadine on Movement Disorder in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
6 TOPAZ: Trial of Parkinson's And Zoledronic Acid A Randomized Placebo-controlled Trial of Zoledronic Acid for the Prevention of Fractures in Patients With Parkinson's Disease Recruiting NCT03924414 Phase 4 Zoledronic Acid 5Mg/Bag 100Ml Inj
7 Myocardial 123I-MIBG Scintigraphy in Aging and Neurodegenerative Disease Enrolling by invitation NCT05514106 Phase 4 meta-iodobenzylguanidine (MIBG) (123I)
8 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
9 An Open-Label Tolerability and Exploratory Efficacy Study of Zonisamide for Dyskinesias in Parkinson's Disease Suspended NCT03034538 Phase 4 Zonegran
10 A Randomized, Double-Blind, Placebo-Controlled Study of Droxidopa for Fatigue in Parkinson's Disease Terminated NCT03034564 Phase 4 Northera;Placebo Oral Tablet
11 Targeting Monoaminergic Neuronal Networks in the Parkinsonian Patients After Carbon Monoxide Intoxication Unknown status NCT02138864 Phase 3
12 An Open Label, Multicenter Study, Evaluating the Safety and Efficacy of 18F-AV-133 PET Imaging to Identify Subjects With Dopaminergic Degeneration Among Subjects Presenting to a Movement Disorders Specialty Clinic With an Uncertain Diagnosis Completed NCT01550484 Phase 2, Phase 3 18F-AV-133
13 A Multicentre, Phase 3, Clinical Study to Compare the Striatal Uptake of a Dopamine Transporter Radioligand, DaTSCAN™ Ioflupane (123I) Injection, After Intravenous Administration to Chinese Patients With a Diagnosis of Parkinson's Disease, Multiple System Atrophy, Progressive Supranuclear Palsy, or Essential Tremor and to Healthy Controls Completed NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
14 Investigator Clinical Trial for Evaluation of Safety and Tolerability After Transplantation of Fetal Mesencephalic Dopamine Neuronal Precursor Cells in Patients With Parkinson's Disease Unknown status NCT01860794 Phase 1, Phase 2 Mesencephalic Neuronal Precursor Cells
15 Developing a Novel Imaging Biomarker in the Differential Diagnosis of Parkinson's Disease and Parkinsonism by 18F-DTBZ PET Completed NCT02059733 Phase 2 18F-DTBZ
16 Effect of Clonazepam on REM Sleep Behavior Disorder in Patients With Parkinsonism: a Prospective, Randomized, Double-blind and Placebo-controlled Trial Completed NCT02312908 Phase 2 Clonazepam;Placebo
17 Novel Neuroimage Study in Tauopathies With Parkinsonism Completed NCT03386669 Phase 2 F-18
18 Dynamic SPECT Imaging With [123I]ß-CIT in Patients With Parkinsonism Completed NCT00132626 Phase 2 [123I]ß-CIT and SPECT imaging
19 Randomized Double Blind Placebo Controlled Cross-Over Study of Incobotulinum Toxin A (Xeomin®) for Troublesome Sialorrhea in Parkinson's Disease (PD)/Parkinsonism Completed NCT01653132 Phase 2 Incobotulinum Toxin A;Placebo
20 From Mouse Models to Patients: Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 Parkinsonism Completed NCT01759888 Phase 2 18F-DTBZ
21 18F-DTBZ PET and Multi-modal MRI in the Patients With Vascular Parkinsonism: Investigating the Correlation Between Cerebral Structural and Functional Changes, and Clinical Manifestation Completed NCT02195154 Phase 2 18F-DTBZ
22 The Differential Diagnosis of Parkinson's Disease and Parkinsonism by Positron-emission Tomography With Vesicular Monoamine Transporter Ligand (18F-DTBZ) Completed NCT01824056 Phase 2 18F-FDG
23 Dynamic SPECT Imaging With [123I] B-CIT in Individuals With Parkinsonian Syndrome (PS) and in Individuals at Risk for Parkinsonian Syndrome Completed NCT00117819 Phase 2 [123I]ß CIT and SPECT imaging
24 Investigating Effects of Short-term Treatment With Pramipexole or Levodopa on [123I]B-CIT and SPECT Imaging in Early Parkinson's Completed NCT00096720 Phase 2 levodopa;Mirapex (pramipexole)
25 Development of a Imaging Marker for Parkinson's Disease Through Use of Dynamic SPECT Imaging With [123I] Beta-CIT in Individuals With Parkinson's Symptoms Completed NCT00129675 Phase 2 [123I]ß CIT
26 Development of Imaging, Clinical and Biochemical Bio-Markers for Parkinson's Disease Completed NCT00315250 Phase 2 [123I]β-CIT
27 Assessment of Pre-symptomatic and Symptomatic Patients With Parkinson Disease to Identify and Characterize Genetic and Phenotypic Biomarkers for Disease Onset and Progression. Completed NCT00273351 Phase 2 [123I]B-CIT
28 Treating Sequalae Caused by Post-acute Sequelae of SARS (Severe Acute Respiratory Syndrome)-CoV-2 Infection Recruiting NCT04846010 Phase 1, Phase 2
29 Efficacy and Safety of Astragalus for Non-Motor Symptoms of Parkinsonism:an Open-Label Self-Controlled Before-and-After Study Recruiting NCT05506891 Phase 2 Astragalus
30 Effect of Exercise on Recovery in Drug-Induced Parkinsonism and Parkinson Disease Active, not recruiting NCT02598973 Phase 1, Phase 2
31 Does Presynaptic Dopamine Receptor Stimulation Transiently Worsen Parkinsonism? Withdrawn NCT00472355 Phase 2 apomorphine
32 Randomized Double Blind Placebo Controlled Cross-Over Study of Incobotulinum Toxin A (Xeomin®) for Troublesome Sialorrhea in Parkinson's Disease (PD)/Parkinsonism and Amyotrophic Lateral Sclerosis (ALS) Withdrawn NCT01565395 Phase 2 Incobotulinum Toxin A;placebo
33 Safety and Efficacy of Droxidopa for Fatigue in Patients With Parkinsonism Withdrawn NCT03446807 Phase 2 Droxidopa;Placebo Oral Tablet
34 Botulinum Toxin for Treatment of Seborrhic Dermatitis in Parkinsonian Patients Unknown status NCT00767546 Phase 1 Botulinum toxin
35 Acute Effects of SCH 420814 on Dyskinesia and Parkinsonism in Levodopa Treated Patients Completed NCT00845000 Phase 1 SCH 420814 10 mg;SCH 420814 100 mg;Placebo;Levodopa;Carbidopa
36 A 12 Week Randomized, Double Blind, Placebo-Controlled Pilot Study of Davunetide (NAP, AL-108) in Predicted Tauopathies Completed NCT01056965 Phase 1 davunetide (AL-108, NAP);Placebo nasal spray
37 A Phase 1 Study to Evaluate the Safety, Tolerability, and Immunogenicity of UBITh® PD Immunotherapeutic Vaccine (UB-312) in Healthy Participants and Participants With Parkinson's Disease Active, not recruiting NCT04075318 Phase 1
38 BEWARE: Body Awareness Training in the trEatment of Wearing-off Related Anxiety in Patients With paRkinson's diseasE. Unknown status NCT02054845
39 Clinical, Molecular and by Neuroimaging Characterization of Monogenic Forms of Parkinsonism Syndromes: Mutations of the LRRK2 Gene. Unknown status NCT01085227
40 Imaging Neuromelanin and Iron in Dystonia/Parkinsonism Unknown status NCT03572114
41 Degenerative Nigrostriatal Dysfunction in Drug-induced Parkinsonism Unknown status NCT02361255
42 Understanding Autonomic Function in REM Sleep Behavior Disorder, Parkinsonism and Controls Unknown status NCT01674998
43 Observational Study Assessing the Diagnostic Contribution of 3-Tesla MRI, CSF Analysis and a Second Opinion in a Specialized Movement Disorder Centre, in Differentiating Between Parkinson's Disease and Atypical Parkinsonism Unknown status NCT01249768
44 LIPAD - LRRK2 International Parkinson's Disease Study: an International, Multicenter, Epidemiological Observational Study Unknown status NCT04214509
45 Thoracic Dorsal Spinal Cord Stimulation for the Treatment of Gait and Balance Impairments in Parkinson Disease Unknown status NCT03079310
46 The Efficacy of Long-term Whole-body Vibration in the Treatment of Parkinson's Disease Unknown status NCT02306863
47 Cerebellar rTMS Theta Burst for Dual-task Walking in Parkinson's Disease:a Double Blind Cross-over Sham-controlled Study Using Wearing Sensors Technology Unknown status NCT04238000
48 Systems Medicine of Mitochondrial and Biochemical Parkinson's Disease and Other Related Movement Disorders Unknown status NCT03421899
49 Effects of Motor Imagery and Action Observation Training on Gait and Brain Activation Pattern of Individuals With Parkinson's Disease: Randomized Controlled Clinical Trial Unknown status NCT03439800
50 Improving Posture in Parkinson's Patients Through Home-based Training and Biofeedback Unknown status NCT03477695

Search NIH Clinical Center for Parkinsonism

Genetic Tests for Parkinsonism

Anatomical Context for Parkinsonism

Organs/tissues related to Parkinsonism:

MalaCards : Brain, Subthalamic Nucleus, Spinal Cord, Globus Pallidus, Eye, Caudate Nucleus, Liver

Publications for Parkinsonism

Articles related to Parkinsonism:

(show top 50) (show all 19650)
# Title Authors PMID Year
1
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 5
27541164 2016
2
Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa. 53 62
19945510 2010
3
POLG1 polyglutamine tract variants associated with Parkinson's disease. 53 62
20399836 2010
4
Narcolepsy in Parkinson's disease. 53 62
20518604 2010
5
Comment on "compound heterozygosity in DJ-1 gene non-coding portion related to Parkinsonism". 53 62
20227322 2010
6
Degenerative parkinsonism in patients with psychogenic parkinsonism: A dopamine transporter imaging study. 53 62
20061077 2010
7
Drosophila models of human tauopathies indicate that Tau protein toxicity in vivo is mediated by soluble cytosolic phosphorylated forms of the protein. 53 62
20193038 2010
8
Methylation regulates alpha-synuclein expression and is decreased in Parkinson's disease patients' brains. 53 62
20445061 2010
9
DJ-1 is critical for mitochondrial function and rescues PINK1 loss of function. 53 62
20457924 2010
10
Disease-causing mutations in parkin impair mitochondrial ubiquitination, aggregation, and HDAC6-dependent mitophagy. 53 62
20457763 2010
11
LRRK2 and Parkinson disease. 53 62
20457952 2010
12
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders. 53 62
20425034 2010
13
Parkinson's disease: insights from pathways. 53 62
20421364 2010
14
Identification and characterization of a novel endogenous murine parkin mutation. 53 62
20089136 2010
15
The mitochondrial fusion-promoting factor mitofusin is a substrate of the PINK1/parkin pathway. 53 62
20383334 2010
16
A pivotal role for PINK1 and autophagy in mitochondrial quality control: implications for Parkinson disease. 53 62
20385539 2010
17
Lysosomal degradation of alpha-synuclein in vivo. 53 62
20200163 2010
18
Increased interaction between DJ-1 and the Mi-2/ nucleosome remodelling and deacetylase complex during cellular stress. 53 62
20127688 2010
19
Synergistic anti-Parkinsonism activity of high doses of B vitamins in a chronic cellular model. 53 62
18639366 2010
20
[Establishment and application of an analytical method for PINK1 gene exon copy number]. 53 62
20376796 2010
21
In vivo assessment of brain monoamine systems in parkin gene carriers: a PET study. 53 62
20043906 2010
22
Mechanisms in dominant parkinsonism: The toxic triangle of LRRK2, alpha-synuclein, and tau. 53 62
20127702 2010
23
alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. 53 62
19833540 2010
24
SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications. 53 62
20004653 2010
25
The role of imaging in the diagnosis of vascular parkinsonism. 53 62
19959019 2010
26
Genetic screening reveals high frequency of PARK2 mutations and reduced Parkin expression conferring risk for Parkinsonism in North West India. 53 62
19734163 2010
27
The role of DAT-SPECT in movement disorders. 53 62
20019219 2010
28
The biology and pathology of the familial Parkinson's disease protein LRRK2. 53 62
20187256 2010
29
'Prion-like' propagation of mouse and human tau aggregates in an inducible mouse model of tauopathy. 53 62
20160454 2010
30
Brain alpha-synuclein accumulation in multiple system atrophy, Parkinson's disease and progressive supranuclear palsy: a comparative investigation. 53 62
19903734 2010
31
Differential neuropsychological profiles in Parkinsonian patients with or without vascular lesions. 53 62
20014112 2010
32
Synphilin-1 exhibits trophic and protective effects against Rotenone toxicity. 53 62
19857556 2010
33
Tickled PINK1: mitochondrial homeostasis and autophagy in recessive Parkinsonism. 53 62
19595762 2010
34
Neurodegenerative dementia and parkinsonism. 53 62
20082052 2010
35
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. 53 62
19915576 2009
36
Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease. 53 62
19815446 2009
37
Involvement of puromycin-sensitive aminopeptidase in proteolysis of tau protein in cultured cells, and attenuated proteolysis of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) mutant tau. 53 62
20377816 2009
38
Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population. 53 62
19890971 2009
39
The PINK1/Parkin pathway: a mitochondrial quality control system? 53 62
19967438 2009
40
Clinical features of LRRK2 parkinsonism. 53 62
20082991 2009
41
The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. 53 62
19756366 2009
42
[Clinical, pathological, and genetic characteristics of frontotemporal dementia and parkinsonism linked to chromosome 17 with mutations in the MAPT and PGRN]. 53 62
19938685 2009
43
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. 53 62
19796183 2009
44
Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study. 53 62
19845000 2009
45
Enhanced alpha-synuclein expression in human neurodegenerative diseases: pathogenetic and therapeutic implications. 53 62
19538156 2009
46
Nitroindazole compounds inhibit the oxidative activation of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) neurotoxin to neurotoxic pyridinium cations by human monoamine oxidase (MAO). 53 62
19669997 2009
47
The role of PTEN-induced kinase 1 in mitochondrial dysfunction and dynamics. 53 62
19703660 2009
48
Expanding the clinical phenotype of SNCA duplication carriers. 53 62
19562770 2009
49
Parkin protects against LRRK2 G2019S mutant-induced dopaminergic neurodegeneration in Drosophila. 53 62
19741132 2009
50
Parkin promotes intracellular Abeta1-42 clearance. 53 62
19483198 2009

Variations for Parkinsonism

ClinVar genetic disease variations for Parkinsonism:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRN NM_002087.4(GRN):c.52A>G (p.Thr18Ala) SNV Pathogenic
1687738 rs1003823098 GRCh37: 17:42426584-42426584
GRCh38: 17:44349216-44349216
2 TBC1D24 NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) SNV Pathogenic
375708 rs1057519630 GRCh37: 16:2546553-2546553
GRCh38: 16:2496552-2496552
3 TBC1D24 NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) SNV Pathogenic
375707 rs1057519629 GRCh37: 16:2548333-2548333
GRCh38: 16:2498332-2498332
4 LOC106627981, GBA1 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) SNV Risk Factor
Risk Factor
Risk Factor
199044 rs2230288 GRCh37: 1:155206167-155206167
GRCh38: 1:155236376-155236376
5 LOC106627981, GBA1 NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) SNV Risk Factor
4288 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
6 MT-ND6 NC_012920.1:m.14598T>C SNV Likely Pathogenic
374080 rs1057518882 GRCh37: MT:14598-14598
GRCh38: MT:14598-14598
7 LOC106627981, GBA1 NM_000157.4(GBA1):c.1279G>A (p.Glu427Lys) SNV Uncertain Significance
493050 rs149171124 GRCh37: 1:155205581-155205581
GRCh38: 1:155235790-155235790
8 MRE11 NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) SNV Uncertain Significance
127974 rs139461096 GRCh37: 11:94180441-94180441
GRCh38: 11:94447275-94447275
9 TGM6 NM_198994.3(TGM6):c.76C>T (p.Pro26Ser) SNV Uncertain Significance
523569 rs766248910 GRCh37: 20:2375166-2375166
GRCh38: 20:2394520-2394520
10 MT-CYB NC_012920.1:m.15127C>T SNV Uncertain Significance
370064 rs1057516074 GRCh37: MT:15127-15127
GRCh38: MT:15127-15127
11 ADCY5 NM_183357.3(ADCY5):c.649del (p.Arg217fs) DEL Uncertain Significance
373900 rs1057518757 GRCh37: 3:123166744-123166744
GRCh38: 3:123447897-123447897
12 LRRK2 NM_198578.4(LRRK2):c.5647T>C (p.Phe1883Leu) SNV Uncertain Significance
373908 rs762890407 GRCh37: 12:40717099-40717099
GRCh38: 12:40323297-40323297
13 CSF1R, LOC111188154 NM_001288705.3(CSF1R):c.647G>A (p.Arg216Gln) SNV Uncertain Significance
374038 rs750413238 GRCh37: 5:149457757-149457757
GRCh38: 5:150078194-150078194
14 TYROBP NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn) SNV Uncertain Significance
374122 rs758290972 GRCh37: 19:36398632-36398632
GRCh38: 19:35907730-35907730
15 PDGFRB NM_002609.4(PDGFRB):c.3241G>A (p.Glu1081Lys) SNV Uncertain Significance
523454 rs1554107047 GRCh37: 5:149495406-149495406
GRCh38: 5:150115843-150115843
16 MRE11 NM_005591.4(MRE11):c.229G>A (p.Glu77Lys) SNV Uncertain Significance
481777 rs779269083 GRCh37: 11:94219175-94219175
GRCh38: 11:94486009-94486009
17 DCTN1 NM_004082.5(DCTN1):c.673C>T (p.Arg225Trp) SNV Likely Benign
453052 rs371723224 GRCh37: 2:74598276-74598276
GRCh38: 2:74371149-74371149

Expression for Parkinsonism

Search GEO for disease gene expression data for Parkinsonism.

Pathways for Parkinsonism

Pathways related to Parkinsonism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.03 SNCA PRKN PINK1 PARK7 MAPT LRRK2
2 10.87 SNCA SLC6A3 PRKN PARK7
3 10.75 SNCA SLC6A3 PRKN PINK1 PARK7 LRRK2
4
Show member pathways
10.56 PRKN ATXN3

GO Terms for Parkinsonism

Cellular components related to Parkinsonism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.68 ATP13A2 ATP1A3 MT-ND6 PINK1 SLC30A10 SLC39A14
2 membrane GO:0016020 10.68 ATP13A2 ATP1A3 ATXN2 GBA1 GRN LRRK2
3 growth cone GO:0030426 10.01 SNCA PINK1 MAPT LRRK2
4 neuron projection GO:0043005 10 SLC6A3 PRKN PARK7 MAPT LRRK2 ATP13A2
5 synapse GO:0045202 9.97 ATP1A3 ATXN3 LRRK2 PARK7 PRKN SNCA
6 lysosome GO:0005764 9.9 ATP13A2 GBA1 GRN LRRK2 SLC39A14 SNCA
7 neuronal cell body GO:0043025 9.73 SNCA SLC6A3 MAPT LRRK2 ATP1A3 ATP13A2
8 Lewy body GO:0097413 9.67 PRKN PINK1
9 axon GO:0030424 9.47 SNCA SLC6A3 PINK1 PARK7 MAPT LRRK2

Biological processes related to Parkinsonism according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 10.36 MAPT PARK7 PINK1 PRKN TAF1
2 protein autophosphorylation GO:0046777 10.31 TRPM7 TAF1 LRRK2 ATP13A2
3 protein stabilization GO:0050821 10.3 TAF1 PRKN PINK1 PARK7 GRN
4 response to oxidative stress GO:0006979 10.24 PRKN PINK1 PARK7 LRRK2
5 adult locomotory behavior GO:0008344 10.16 SNCA PRKN PARK7
6 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 10.15 TAF1 PRKN LRRK2 GBA1
7 lysosome organization GO:0007040 10.14 LRRK2 GRN GBA1
8 cellular zinc ion homeostasis GO:0006882 10.1 ATP13A2 SLC30A10 SLC39A14
9 cellular response to oxidative stress GO:0034599 10.1 ATP13A2 LRRK2 PARK7 PINK1 SNCA
10 regulation of mitochondrial membrane potential GO:0051881 10.09 PRKN PINK1 PARK7
11 mitochondrion organization GO:0007005 10.07 PRKN PINK1 PARK7 LRRK2 GBA1
12 amyloid fibril formation GO:1990000 10.05 SNCA PRKN MAPT
13 regulation of mitochondrion organization GO:0010821 10.03 PRKN PINK1 ATP13A2
14 autophagy GO:0006914 10.02 PRKN PINK1 PARK7 LRRK2 GBA1 ATP13A2
15 manganese ion transmembrane transport GO:0071421 10.01 SLC39A14 SLC30A10
16 regulation of dopamine metabolic process GO:0042053 10 SLC6A3 PRKN
17 negative regulation of hydrogen peroxide-induced cell death GO:1903206 10 PARK7 LRRK2
18 regulation of cellular response to oxidative stress GO:1900407 10 PRKN PINK1
19 protein localization to mitochondrion GO:0070585 10 PRKN LRRK2
20 negative regulation of neuron apoptotic process GO:0043524 10 GBA1 GRN PARK7 PINK1 PRKN SLC30A10
21 dopamine biosynthetic process GO:0042416 9.99 SNCA SLC6A3
22 regulation of mitochondrial fission GO:0090140 9.99 LRRK2 MAPT
23 cellular response to toxic substance GO:0097237 9.99 PINK1 PRKN
24 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.99 PRKN PARK7 LRRK2
25 positive regulation of autophagy of mitochondrion GO:1903599 9.98 PRKN PARK7
26 regulation of protein targeting to mitochondrion GO:1903214 9.98 PRKN PINK1
27 intracellular distribution of mitochondria GO:0048312 9.97 MAPT LRRK2
28 regulation of locomotion GO:0040012 9.97 SNCA LRRK2
29 regulation of reactive oxygen species metabolic process GO:2000377 9.97 SNCA PRKN PINK1
30 autophagosome organization GO:1905037 9.96 GBA1 ATP13A2
31 positive regulation of histone deacetylase activity GO:1901727 9.96 PINK1 LRRK2
32 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.95 PRKN PINK1
33 positive regulation of androgen receptor activity GO:2000825 9.95 TAF1 PARK7
34 zinc ion homeostasis GO:0055069 9.94 PRKN ATP13A2
35 cellular response to manganese ion GO:0071287 9.93 PRKN LRRK2 ATP13A2
36 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.92 PRKN PARK7
37 negative regulation of mitochondrial fission GO:0090258 9.92 PINK1 MAPT
38 mitophagy GO:0000423 9.92 GBA1 PINK1 PRKN
39 negative regulation of oxidative stress-induced cell death GO:1903202 9.91 PRKN PINK1 PARK7
40 mitochondrion to lysosome transport GO:0099074 9.9 PINK1 PRKN
41 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 9.89 PARK7 PINK1
42 negative regulation of oxidative stress-induced neuron death GO:1903204 9.89 TBC1D24 PINK1 PARK7
43 regulation of lysosomal protein catabolic process GO:1905165 9.88 ATP13A2 GBA1
44 monoatomic cation transport GO:0006812 9.86 TRPM7 SLC30A10 ATP13A2
45 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.84 PINK1 PARK7
46 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization GO:1904925 9.81 PINK1 GBA1
47 regulation of synaptic vesicle transport GO:1902803 9.73 PRKN PINK1 LRRK2
48 synaptic transmission, dopaminergic GO:0001963 9.65 SNCA PRKN PARK7
49 dopamine uptake involved in synaptic transmission GO:0051583 9.56 SNCA SLC6A3 PRKN PARK7
50 negative regulation of neuron death GO:1901215 9.44 SNCA PRKN PINK1 PARK7 LRRK2 GBA1

Molecular functions related to Parkinsonism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 10.02 TRPM7 SNCA PRKN MAPT LRRK2
2 tubulin binding GO:0015631 9.77 PRKN MAPT LRRK2
3 cuprous ion binding GO:1903136 9.56 SNCA PARK7
4 manganese ion transmembrane transporter activity GO:0005384 9.46 SLC39A14 SLC30A10
5 cupric ion binding GO:1903135 9.26 PARK7 ATP13A2
6 chaperone binding GO:0051087 9.23 PRKN MAPT GRN ATP1A3

Sources for Parkinsonism

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....