MCID: ESS001
MIFTS: 56

Essential Tremor

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

Aliases & Classifications for Essential Tremor

MalaCards integrated aliases for Essential Tremor:

Name: Essential Tremor 12 20 43 53 36 29 54 6 44 15 17 70 32
Hereditary Essential Tremor 20 43 6
Benign Essential Tremor 12 20 43
Familial Essential Tremor 20 6
Familial Tremor 43 70
Essential Tremor, Susceptibility to 6
Benign Essential Tremor Syndrome 73
Tremor, Hereditary Essential, 1 20
Tremor, Hereditary Essential 39
Essential Hereditary Tremor 12
Tremor Hereditary Essential 73
Presenile Tremor Syndrome 20
Shaky Hand Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4990
KEGG 36 H01577
MeSH 44 D020329
SNOMED-CT 67 192839001
ICD10 32 G25.0
UMLS 70 C0270736 C0393615

Summaries for Essential Tremor

MedlinePlus Genetics : 43 Essential tremor is a movement disorder that causes involuntary, rhythmic shaking (tremor), especially in the hands. It is distinguished from tremor that results from other disorders or known causes, such as Parkinson disease or head trauma. Essential tremor usually occurs alone, without other neurological signs or symptoms. However, some experts think that essential tremor can include additional features, such as mild balance problems.Essential tremor usually occurs with movements and can occur during many different types of activities, such as eating, drinking, or writing. Essential tremor can also occur when the muscles are opposing gravity, such as when the hands are extended. It is usually not evident at rest.In addition to the hands and arms, muscles of the trunk, face, head, and neck may also exhibit tremor in this disorder; the legs and feet are less often involved. Head tremor may appear as a "yes-yes" or "no-no" movement while the affected individual is seated or standing. In some people with essential tremor, the tremor may affect the voice (vocal tremor).Essential tremor does not shorten the lifespan. However, it may interfere with fine motor skills such as using eating utensils, writing, shaving, or applying makeup, and in some cases these and other activities of daily living can be greatly impaired. Symptoms of essential tremor may be aggravated by emotional stress, anxiety, fatigue, hunger, caffeine, cigarette smoking, or temperature extremes.Essential tremor may appear at any age but is most common in older adults. Some studies have suggested that people with essential tremor have a higher than average risk of developing neurological conditions including Parkinson disease or sensory problems such as hearing loss, especially in individuals whose tremor appears after age 65.

MalaCards based summary : Essential Tremor, also known as hereditary essential tremor, is related to tremor, hereditary essential, 5 and tremor, hereditary essential, 1, and has symptoms including tremor, action tremor and essential and other specified forms of tremor. An important gene associated with Essential Tremor is DNAJC13 (DnaJ Heat Shock Protein Family (Hsp40) Member C13), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Prion disease. The drugs Propranolol and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include thalamus, brain and cerebellum.

Disease Ontology : 12 A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.

GARD : 20 Essential tremor is the most common movement disorder. It is characterized by involuntary and rhythmic shaking (tremor), especially in the hands, without any other signs or symptoms. It is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head trauma. Most cases of essential tremor are hereditary. There are five forms of essential tremor that are based on different genetic causes. Several genes as well as lifestyle and environmental factors likely play a role in a person's risk of developing this complex condition. In mild cases, treatment may not be necessary. In cases where symptoms interfere with daily living, medications may help to relieve symptoms.

NINDS : 53 Tremor is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body. Essential tremor (previously called benign essential tremor) is the most common form of abnormal tremor. (In some people, tremor is a symptom of a neurological disorder or appears as a side effect of certain drugs.)  Although it may be mild and nonprogressive in some people, in others the tremor is slowly progressive, starting on one side of the body but eventually affecting both sides. Hand tremor is most common but the head, arms, voice, tongue, legs, and trunk may also be involved. Hand tremor may cause problems with purposeful movements such as eating, writing, sewing, or shaving. Head tremor may be seen as a "yes-yes" or "no-no" motion. Essential tremor may be accompanied by mild gait disturbance. Heightened emotion, stress, fever, physical exhaustion, or low blood sugar may trigger tremors or increase their severity. There may be mild degeneration in the certain parts of the cerebellum in persons with essential tremor.  Onset is most common after age 40, although symptoms can appear at any age. Children of a parent who has essential tremor have up to a 50 percent chance of inheriting the condition. Essential tremor is not associated with any known pathology.

KEGG : 36 Essential tremor (ET) is a neurological disorder that is considered to be one of the most common adult-onset movement disorders. ET is typically characterized by rhythmic, involuntary shaking of one or more parts of the body, and occurs exclusively during voluntary movements (action tremor) or in positions against gravity (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence of both highly disabling and milder forms of the disease. There are three subtypes of ET, namely hereditary, sporadic, and senile, and most studies indicate that ET is a hereditary disorder in more than half of affected individuals (and presumably has autosomal-dominant inheritance). The diagnostic approach includes obtaining a history, physical examination, and laboratory tests. At present, there are no validated serologic, radiologic, or pathological markers.

Wikipedia : 73 Essential tremor (ET), also called benign tremor, familial tremor, and idiopathic tremor, is a medical... more...

Related Diseases for Essential Tremor

Diseases in the Tremor family:

Tremor, Hereditary Essential, 1 Tremor, Hereditary Essential, 2
Tremor, Hereditary Essential, 3 Tremor, Hereditary Essential, 4
Tremor, Hereditary Essential, 5 Tremor, Hereditary Essential, 6
Essential Tremor Rare Tremor Disorder

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

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 tremor, hereditary essential, 5 32.9 TENM4 LINGO4 LINGO2 LINGO1 DNAJC13
2 tremor, hereditary essential, 1 32.7 TENM4 SLC1A2 LINGO4 LINGO2 LINGO1 HTRA2
3 tremor, hereditary essential, 4 32.7 TENM4 LINGO4 LINGO2 LINGO1 FUS DNAJC13
4 tremor 32.6 TENM4 SNCA PRKN NOTCH2NLC LRRK2 FUS
5 tremor, hereditary essential, 2 32.4 TENM4 SLC1A2 LINGO4 LINGO2 LINGO1 HTRA2
6 tremor, hereditary essential, 3 32.0 TENM4 SLC1A2 LINGO4 LINGO2 LINGO1 HTRA2
7 movement disease 31.9 SNCA SLC6A3 PRKN LRRK2 LINGO1 FUS
8 parkinsonism 31.6 SNCA SLC6A3 LRRK2
9 dystonia 31.4 SLC6A3 PRKN LRRK2 FUS DRD3 ANO3
10 parkinson disease, late-onset 31.1 SNCA SLC6A3 PRKN LRRK2 LINGO1 HTRA2
11 rem sleep behavior disorder 31.0 SNCA SLC6A3 PRKN LRRK2
12 supranuclear palsy, progressive, 1 31.0 SNCA SLC6A3 PRKN LRRK2 FUS
13 cerebellar disease 30.9 SNCA PRKN FUS FMR1
14 alcohol dependence 30.9 SNCA SLC6A3 SLC1A2 DRD3
15 restless legs syndrome 30.9 SNCA SLC6A3 SLC1A2 PRKN FMR1 DRD3
16 migraine with or without aura 1 30.8 SLC6A3 SLC1A2 FMR1 DRD3
17 sleep disorder 30.8 SNCA SLC6A3 LRRK2
18 multiple system atrophy 1 30.8 SNCA SLC6A3 PRKN LRRK2 FMR1
19 autonomic dysfunction 30.8 SNCA NOTCH2NLC
20 early-onset parkinson's disease 30.7 SNCA PRKN LRRK2
21 dementia 30.7 SNCA SLC6A3 PRKN LRRK2 FUS FMR1
22 autosomal dominant cerebellar ataxia 30.6 SNCA PRKN LRRK2 FUS FMR1
23 machado-joseph disease 30.6 SNCA SLC6A3 PRKN
24 amyotrophic lateral sclerosis 1 30.6 SNCA SLC6A3 SLC1A2 PRKN LRRK2 HTRA2
25 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 30.2 SNCA LRRK2 FUS
26 choreatic disease 30.2 SNCA SLC6A3 PRKN
27 neuronal intranuclear inclusion disease 30.2 SNCA NOTCH2NLC
28 dysautonomia 30.2 SNCA DNAJC13
29 dentatorubral-pallidoluysian atrophy 30.2 SNCA PRKN FUS FMR1
30 sensorineural hearing loss-early graying-essential tremor syndrome 11.3
31 tremor, hereditary essential, 6 11.3
32 mental retardation, autosomal recessive 48 11.1
33 primary orthostatic tremor 11.0
34 deep brain stimulation for movement disorders 11.0
35 dystonia 3, torsion, x-linked 11.0
36 nephronophthisis-like nephropathy 1 11.0
37 ataxia and polyneuropathy, adult-onset 10.7
38 cervical dystonia 10.5
39 mild cognitive impairment 10.5
40 developmental and epileptic encephalopathy 24 10.4 SLC1A2 LINGO1 DRD3
41 paresthesia 10.4
42 bestiality 10.4 SLC6A3 DRD3
43 ideomotor apraxia 10.4 SNCA FUS
44 cerebellar degeneration 10.4
45 von economo's disease 10.4 SNCA LRRK2
46 parkinson disease 21 10.4 PRKN LRRK2 DNAJC13
47 parkinson disease 4, autosomal dominant 10.4 SNCA SLC6A3
48 akinetic mutism 10.4 SNCA SLC6A3
49 hereditary late-onset parkinson disease 10.4 SNCA LRRK2 DNAJC13
50 radial nerve lesion 10.4 PRKN LRRK2

Graphical network of the top 20 diseases related to Essential Tremor:



Diseases related to Essential Tremor

Symptoms & Phenotypes for Essential Tremor

UMLS symptoms related to Essential Tremor:


tremor; action tremor; essential and other specified forms of tremor; senile tremor; physiological tremor

Drugs & Therapeutics for Essential Tremor

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 4 525-66-6 4946
2
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
3
Ethanol Approved Phase 4 64-17-5 702
4
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
5
Memantine Approved, Investigational Phase 4 19982-08-2 4054
6 Dopamine Agents Phase 4
7 Neurotransmitter Agents Phase 4
8 Antiparkinson Agents Phase 4
9 Hormones Phase 4
10 calcium channel blockers Phase 4
11 Calcium, Dietary Phase 4
12 Adrenergic beta-Antagonists Phase 4
13 Cholinergic Agents Phase 4
14 Botulinum Toxins Phase 4
15 Psychotropic Drugs Phase 4
16 Anti-Anxiety Agents Phase 4
17 Anti-Arrhythmia Agents Phase 4
18 Vasodilator Agents Phase 4
19 Anti-Infective Agents, Local Phase 4
20 Adrenergic Antagonists Phase 4
21 Adrenergic Agents Phase 4
22 Anti-Infective Agents Phase 4
23 Antihypertensive Agents Phase 4
24 Excitatory Amino Acid Antagonists Phase 4
25
Calcium Nutraceutical Phase 4 7440-70-2 271
26
Topiramate Approved Phase 3 97240-79-4 5284627
27
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
28 Hypoglycemic Agents Phase 3
29
Sage Approved Phase 2
30
Dronabinol Approved, Illicit Phase 1, Phase 2 1972-08-3 16078
31
Levetiracetam Approved Phase 1, Phase 2 102767-28-2 441341
32
Sodium oxybate Approved Phase 2 502-85-2 5360545
33
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
34
Promethazine Approved, Investigational Phase 2 60-87-7 4927
35 Epidiolex Phase 1, Phase 2
36 Nootropic Agents Phase 1, Phase 2
37 Soy Bean Phase 2
38 Pharmaceutical Solutions Phase 2
39 abobotulinumtoxinA Phase 2
40 Botulinum Toxins, Type A Phase 2
41 incobotulinumtoxinA Phase 2
42
Coal tar Approved 8007-45-2
43
Primidone Approved, Vet_approved 125-33-7 4909
44
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
45
Triamcinolone Approved, Vet_approved 124-94-7 31307
46
Zonisamide Approved, Investigational 68291-97-4 5734
47
2-Phenylethanol Experimental 60-12-8 6054
48 Gastrointestinal Agents
49 Cathartics
50 Laxatives

Interventional clinical trials:

(show top 50) (show all 168)
# Name Status NCT ID Phase Drugs
1 A Multi-site, Double-blind, Randomized, Placebo-controlled, Crossover Study of Pregabalin (Lyrica, PGB) in the Treatment of Essential Tremor Completed NCT00584376 Phase 4 Pregabalin;Placebo
2 Functional Imaging of Tremor Circuits and Mechanisms of Treatment Response Completed NCT02495883 Phase 4 Propranolol
3 A Pilot Clinical Trial of Memantine for Essential Tremor Completed NCT00439699 Phase 4 Memantine
4 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
5 Propranolol and Botulinum Toxin for Essential Vocal Tremor Completed NCT02111369 Phase 4 Propranolol
6 Atlas Predicted DBS Settings in Essential Tremor Suspended NCT02678429 Phase 4
7 A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in the Treatment of Essential Tremor Completed NCT00236496 Phase 3 topiramate
8 Novel Therapies for Essential Tremor Completed NCT00018564 Phase 3 treatments for essential tremor
9 The Single Center, Phase III Clinical Trial to Evaluate the Efficacy and the Safety of [18F]FPCIT Positron Emission Tomography in Parkinson's Disease and Essential Tremor Patients Completed NCT00468078 Phase 3 F-18 FPCIT
10 Bilateral Essential Tremor Treatment With Magnetic Resonance-guided Focused Ultrasound Recruiting NCT04501484 Phase 2, Phase 3
11 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor by a Multi-center, Randomized, Double-Blind, Parallel-group, Placebo-controlled Study Recruiting NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
12 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 Recruiting NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
13 Bilateral Essential Tremor Treatment With Gamma Knife Not yet recruiting NCT04748640 Phase 2, Phase 3
14 Non-inferiority Study of the Molecular Imaging of Dopamine Transporters Using [123I]-FP/CIT-SPECT and [18F] LBT-999-PET to Distinguish Between Parkinson's Disease and Essential Tremor. Not yet recruiting NCT04265209 Phase 3 SPECT;PET
15 Efficacy of Pramipexole Extended Release in the Treatment of Essential Tremor: a Double-blind, Cross-over, Placebo-controlled Multicenter Study Withdrawn NCT01441284 Phase 3 pramipexole;placebo
16 Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation Withdrawn NCT00608231 Phase 2, Phase 3 Dexmedetomidine Hydrochloride Infusion;Normal Saline
17 A Double-Blind, Cross-Over, Placebo-Controlled Efficacy and Tolerability Study of Perampanel and Essential Tremor Unknown status NCT02668146 Phase 2 Perampanel;Placebo
18 Transcranial Static Magnetic Field Stimulation (tSMS) in Essential Tremor Unknown status NCT03780426 Phase 2
19 Novel Therapies for Essential Tremor - Zonisamide Pilot Study Completed NCT00223743 Phase 2 Zonisamide
20 Effects of Octanoic Acid for Treatment of Essential Voice Tremor Completed NCT01864525 Phase 1, Phase 2 Octanoic acid;Inactive capsule
21 A Phase 2, Double-Blind, Placebo-controlled, Randomized Study Evaluating the Efficacy, Safety, and Tolerability of Sage-324 in the Treatment of Individuals With Essential Tremor Completed NCT04305275 Phase 2 SAGE-324;SAGE-324 Placebo
22 A Double-Blind, Cross-Over, Placebo- Controlled Efficacy and Tolerability Study of Oral Cannabidiol (CBD) and Tetrahydrocannabinol (THC) for Essential Tremor (ET). Completed NCT03805750 Phase 1, Phase 2 CBD/THC;Placebo oral capsule
23 A Randomized, Double Blind, Placebo-Controlled, Crossover, Proof of Concept Study to Evaluate the Effectiveness and Safety of Carisbamate in the Treatment of Essential Tremor Completed NCT00524056 Phase 2 Carisbamate;Placebo
24 A Phase 2a Open-Label Study to Evaluate the Safety, Tolerability and Efficacy of CAD-1883 Oral Treatment in Adults With Essential Tremor Completed NCT03688685 Phase 2 CAD-1883
25 Efficacy of Levetiracetam in Patients With Essential Tremor Completed NCT00620165 Phase 1, Phase 2 levetiracetam;placebo
26 Multiple-dose, Double-blind, Placebo-controlled, Crossover Study to Compare the Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Sodium Oxybate (Xyrem) in Subjects With Moderate to Severe Essential Tremor Completed NCT00598078 Phase 2 Sodium Oxybate;Sodium Oxybate
27 Double-Blind, Placebo Controlled Pilot-Study of Octanoic Acid in Essential Tremor Completed NCT00848172 Phase 1, Phase 2 Octanoic Acid;Placebo
28 A Randomized, Double-Blind, Placebo-Controlled, Cross-Over, Safety, Tolerability and Proof of Concept Study of ST101 for Essential Tremor Completed NCT01332695 Phase 2 ST101;Placebo
29 A Double-blind, Placebo-controlled, Two-Period Crossover Proof-of-Concept Study Evaluating the Safety, Tolerability, Pharmacokinetics, and Efficacy of SAGE-547 Injection in the Treatment of Patients With Essential Tremor Completed NCT02277106 Phase 2 SAGE-547;Placebo
30 Prospective, Randomized, Double-blind, Placebo-controlled, Parallel-group Study of the Efficacy and Safety of NT 201 in the Unilateral Treatment of Essential Tremor of the Upper Limb Completed NCT02207946 Phase 2 IncobotulinumtoxinA;Placebo
31 Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor Completed NCT00102596 Phase 2 1-Octanol
32 A Phase 2a, Double-Blind, Placebo-Controlled, Randomized Withdrawal Study Evaluating the Efficacy, Safety, Tolerability, and Pharmacokinetics of SAGE-217 in the Treatment of Subjects With Essential Tremor Completed NCT02978781 Phase 2 SAGE-217;SAGE-217;Placebo
33 Treatment Efficacy of 1-Octanol Compared to Placebo in Adults With Essential Tremor Completed NCT00080366 Phase 2 1-Octanol
34 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of CX-8998 for Essential Tremor Completed NCT03101241 Phase 2 CX-8998;Placebo
35 Prospective, Randomized, Double-blind, Placebo-controlled, Parallel-group Trial With an Open-label Period to Investigate the Efficacy and Safety of NT 201 in the Unilateral and Bilateral Treatment of Essential Tremor of the Upper Limb Recruiting NCT04766723 Phase 2 NT 201;Placebo
36 Left, Right, or Bilateral Thalamic Deep Brain Stimulation for Voice Tremor: A Prospective, Randomized, Double-Blinded Trial Recruiting NCT02960243 Phase 1, Phase 2
37 Botulinum Toxin Type A for Injection of Bilateral Upper Extremity Tremor in Patients With Essential Tremor Using Kinematic Assessment Active, not recruiting NCT02551848 Phase 2 Botulinum toxin type A
38 Use of Kinematic Assessment of Hand Tremor Pre- and Post- Treatment With Botulinum Toxin Type A in Essential Tremor and Parkinson Disease Active, not recruiting NCT02427646 Phase 2 BoNT-A
39 Linac FRACtionated Radiosurgical THALamotomy in Tremors : a Phase II Study Not yet recruiting NCT04727658 Phase 2
40 Phase II Efficacy and Safety of Taro Pharmaceuticals' Pro-Drug T2000 (1,3-dimethoxymethyl-5,5-diphenyl-barbituric Acid) in Patients With Essential Tremor: An Open-Label Dose Continuation Study Terminated NCT00655278 Phase 2 T2000
41 Phase II Efficacy and Safety of Taro Pharmaceuticals' Pro-Drug T2000 (1,3-Dimethoxymethyl-5,5-Diphenyl-Barbituric Acid) In Patients With Essential Tremor: A Randomized, Double-Blind, Placebo-Controlled, Sequential Dose Escalation Study Terminated NCT00321087 Phase 2 T2000;T2000;T2000
42 Dose Escalation Study of Oral Octanoic Acid in Patients With Essential Tremor Completed NCT01468948 Phase 1 Octanoic Acid
43 A Feasibility Study to Evaluate Safety and Initial Effectiveness of ExAblate Transcranial MR Guided Focused Ultrasound for Unilateral Thalamotomy in the Treatment of Essential Tremor Completed NCT01304758 Phase 1
44 MR-Guided Functional Ultrasound-Neurosurgery for Movement Disorders Completed NCT01698450 Phase 1
45 Double-Blind, Placebo-Controlled, Single-Dose Trial of 1-Octanol in Essential Tremor Completed NCT00001986 Phase 1 1-Octanol
46 A Feasibility Study to Evaluate Safety and Initial Effectiveness of ExAblate Transcranial MR Guided Focused Ultrasound for Unilateral Thalamotomy in the Treatment of Essential Tremor Completed NCT02037217 Phase 1
47 Dose Finding Study of 1-Octanol in Essential Tremor Completed NCT00016679 Phase 1 1-Octanol
48 Deep Brain Stimulation (DBS) of the Nucleus Basalis of Meynert (nbM) to Treat Parkinson's Patients With Mild Cognitive Impairment, Amnestic Subtype Unknown status NCT02924194
49 Probabilistic Determination of the Ventro-intermediate Nucleus of the Thalamus (VIM) Coordinates From Radio-anatomical Landmarks on 1.5 Tesla MRI Unknown status NCT03696420
50 Deep braIn Stimulation for Tremor TractographIC Versus Traditional Unknown status NCT02491554

Search NIH Clinical Center for Essential Tremor

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Propranolol
Propranolol Hydrochloride

Cochrane evidence based reviews: essential tremor

Genetic Tests for Essential Tremor

Genetic tests related to Essential Tremor:

# Genetic test Affiliating Genes
1 Essential Tremor 29

Anatomical Context for Essential Tremor

MalaCards organs/tissues related to Essential Tremor:

40
Thalamus, Brain, Cerebellum, Cortex, Tongue, Subthalamic Nucleus, Eye

Publications for Essential Tremor

Articles related to Essential Tremor:

(show top 50) (show all 3989)
# Title Authors PMID Year
1
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. 6 54 61
16809426 2006
2
DRD3 variant and risk of essential tremor. 61 6
17339592 2007
3
Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families. 61 6
16650084 2006
4
European Multicentre Association Study of Schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms. 6
9514583 1998
5
A study of the association between schizophrenia and the dopamine D3 receptor gene. 6
8225313 1993
6
Excess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmed. 6
8411064 1993
7
Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. 6
1362221 1992
8
Imaging essential tremor. 61 54
20437537 2010
9
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor. 61 54
19527940 2010
10
Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. 61 54
19645064 2009
11
DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. 54 61
19524641 2009
12
Molecular imaging studies in Parkinson disease: reducing diagnostic uncertainty. 54 61
19131852 2009
13
Dopamine transporter SPECT: how to remove subjectivity? 54 61
19877234 2009
14
Reappraisal of the role of the DRD3 gene in essential tremor. 54 61
18316228 2008
15
Striatal dopamine transporter abnormalities in patients with essential tremor. 54 61
18317299 2008
16
Validation of a standardized normalization template for statistical parametric mapping analysis of 123I-FP-CIT images. 54 61
17704252 2007
17
[Nuclear neuroimaging of dopamine transporter in Parkinsonism--role in routine clinical practice]. 61 54
17969308 2007
18
Dopamine transporter immunoreactivity in peripheral blood lymphocytes discriminates Parkinson's disease from essential tremor. 61 54
17260170 2007
19
A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations. 54 61
17353387 2007
20
Dual-tracer dopamine transporter and perfusion SPECT in differential diagnosis of parkinsonism using template-based discriminant analysis. 54 61
16513606 2006
21
Screen for expanded FMR1 alleles in patients with essential tremor. 61 54
15300658 2004
22
Role of dopamine transporter imaging in the diagnosis of atypical tremor disorders. 54 61
14531042 2003
23
Alpha-synuclein pathology in Parkinson's and Alzheimer's disease brain: incidence and topographic distribution--a pilot study. 61 54
12845452 2003
24
Essential tremor is not associated with alpha-synuclein gene haplotypes. 54 61
12815663 2003
25
A linkage study of candidate loci in familial Parkinson's Disease. 54 61
12882651 2003
26
Iometopane: (123)I beta-CIT, dopascan injection, GPI 200, RTI 55. 54 61
12952503 2003
27
The status of dopamine nerve terminals in Parkinson's disease and essential tremor: a PET study with the tracer [11-C]FE-CIT. 54 61
11487195 2001
28
Evaluation of Pseudorandom Sonications for Reducing Cavitation With a Clinical Neurosurgery HIFU Device. 61
33166253 2021
29
Emerging concepts on bradykinesia in non-parkinsonian conditions. 61
33793037 2021
30
A case of Anti-LGi1 antibody positive autoimmune epilepsy following deep brain stimulator implantation for essential tremor. 61
33567372 2021
31
Calpain activity in plasma of patients with essential tremor and Parkinson's disease: a pilot study. 61
33729106 2021
32
Altered spontaneous brain activity in essential tremor with and without resting tremor: a resting-state fMRI study. 61
32661843 2021
33
Increased Purkinje Cell Complex Spike and Deep Cerebellar Nucleus Synchrony as a Potential Basis for Syndromic Essential Tremor. A Review and Synthesis of the Literature. 61
33048308 2021
34
REM sleep behaviour disorder in essential tremor: A polysomnographic study. 61
32323893 2021
35
Objective detection of microtremors in netrin-G2 knockout mice. 61
33450333 2021
36
The Signature of Primary Writing Tremor Is Dystonic. 61
33786886 2021
37
Identification of BAG2 and Cathepsin D as Plasma Biomarkers for Parkinson's Disease. 61
33202088 2021
38
Kampo Medicine for Essential Voice Tremor. 61
33711821 2021
39
The Brain Connectome after Gamma Knife Radiosurgery of the Ventro-Intermediate Nucleus for Tremor: Marseille-Lausanne Radiobiology Study Protocol. 61
33684913 2021
40
Increased structural connectivity of thalamic stimulation sites to motor cortex relates to tremor suppression. 61
33773164 2021
41
Spinal astroglial cannabinoid receptors control pathological tremor. 61
33737752 2021
42
Speech Function Following Deep Brain Stimulation of the Caudal Zona Incerta: Effects of Habitual and High-Amplitude Stimulation. 61
33647213 2021
43
Smell tests to distinguish Parkinson's disease from other neurological disorders: a systematic review and meta-analysis. 61
33546569 2021
44
'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers. 61
33757613 2021
45
Essential Tremor versus "ET-plus": A Detailed Postmortem Study of Cerebellar Pathology. 61
33768479 2021
46
The development of an implantable deep brain stimulation device with simultaneous chronic electrophysiological recording and stimulation in humans. 61
33395569 2021
47
Assessment of Motor Dysfunction with Virtual Reality in Patients Undergoing [123I]FP-CIT SPECT/CT Brain Imaging. 61
33810475 2021
48
Combination targeting of subthalamic nucleus and ventral intermediate thalamic nucleus with a single trajectory in deep brain stimulation for tremor-dominant Parkinson's disease. 61
33581797 2021
49
Revisiting Forel Field Surgery. 61
33276174 2021
50
Transcranial magnetic resonance-guided focused ultrasound thalamotomy as a safe treatment option in multiple sclerosis patients with essential tremor. 61
33094429 2021

Variations for Essential Tremor

ClinVar genetic disease variations for Essential Tremor:

6 (show all 25)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJC13 NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser) SNV Pathogenic 56171 rs387907571 GRCh37: 3:132196839-132196839
GRCh38: 3:132477995-132477995
2 DRD3 NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) SNV risk factor 16770 rs6280 GRCh37: 3:113890815-113890815
GRCh38: 3:114171968-114171968
3 DRD3 NM_000796.6(DRD3):c.270+14A>G SNV Uncertain significance 342602 rs75091114 GRCh37: 3:113890556-113890556
GRCh38: 3:114171709-114171709
4 DRD3 NM_000796.6(DRD3):c.-38A>C SNV Uncertain significance 342604 rs201872343 GRCh37: 3:113897506-113897506
GRCh38: 3:114178659-114178659
5 DRD3 NM_000796.6(DRD3):c.821G>A (p.Gly274Glu) SNV Uncertain significance 342597 rs200825904 GRCh37: 3:113850150-113850150
GRCh38: 3:114131303-114131303
6 DRD3 NM_000796.6(DRD3):c.1151C>A (p.Thr384Asn) SNV Uncertain significance 342594 rs886057788 GRCh37: 3:113847615-113847615
GRCh38: 3:114128768-114128768
7 DRD3 NM_000796.6(DRD3):c.-388T>A SNV Uncertain significance 342613 rs886057791 GRCh37: 3:113897856-113897856
GRCh38: 3:114179009-114179009
8 DRD3 NM_000796.6(DRD3):c.383+7C>T SNV Uncertain significance 342600 rs200206712 GRCh37: 3:113878595-113878595
GRCh38: 3:114159748-114159748
9 DRD3 NM_000796.6(DRD3):c.-318C>T SNV Uncertain significance 342611 rs201561838 GRCh37: 3:113897786-113897786
GRCh38: 3:114178939-114178939
10 DRD3 NM_000796.6(DRD3):c.302T>G (p.Ile101Ser) SNV Uncertain significance 342601 rs886057789 GRCh37: 3:113878683-113878683
GRCh38: 3:114159836-114159836
11 DRD3 NM_000796.6(DRD3):c.-114A>G SNV Uncertain significance 342606 rs886057790 GRCh37: 3:113897582-113897582
GRCh38: 3:114178735-114178735
12 DRD3 NM_000796.6(DRD3):c.-281A>G SNV Uncertain significance 342609 rs199852439 GRCh37: 3:113897749-113897749
GRCh38: 3:114178902-114178902
13 DRD3 NM_000796.6(DRD3):c.691T>A (p.Cys231Ser) SNV Likely benign 342599 rs150042478 GRCh37: 3:113858379-113858379
GRCh38: 3:114139532-114139532
14 DRD3 NM_000796.6(DRD3):c.-286A>C SNV Likely benign 342610 rs190248679 GRCh37: 3:113897754-113897754
GRCh38: 3:114178907-114178907
15 DRD3 NM_000796.6(DRD3):c.-153T>G SNV Likely benign 342607 rs200345655 GRCh37: 3:113897621-113897621
GRCh38: 3:114178774-114178774
16 DRD3 NM_000796.6(DRD3):c.-105G>A SNV Likely benign 342605 rs36211802 GRCh37: 3:113897573-113897573
GRCh38: 3:114178726-114178726
17 DRD3 NM_000796.6(DRD3):c.-252C>T SNV Likely benign 342608 rs36211803 GRCh37: 3:113897720-113897720
GRCh38: 3:114178873-114178873
18 DRD3 NM_000796.6(DRD3):c.406G>A (p.Val136Ile) SNV Likely benign 899696 GRCh37: 3:113866382-113866382
GRCh38: 3:114147535-114147535
19 DRD3 NM_000796.6(DRD3):c.112G>A (p.Ala38Thr) SNV Likely benign 899697 GRCh37: 3:113890728-113890728
GRCh38: 3:114171881-114171881
20 DRD3 NM_000796.6(DRD3):c.1077C>T (p.His359=) SNV Likely benign 342595 rs3732791 GRCh37: 3:113847689-113847689
GRCh38: 3:114128842-114128842
21 DRD3 NM_000796.6(DRD3):c.720G>A (p.Gln240=) SNV Benign 342598 rs2251177 GRCh37: 3:113858350-113858350
GRCh38: 3:114139503-114139503
22 DRD3 NM_000796.6(DRD3):c.-333G>A SNV Benign 342612 rs36212175 GRCh37: 3:113897801-113897801
GRCh38: 3:114178954-114178954
23 DRD3 NM_000796.6(DRD3):c.51A>G (p.Ala17=) SNV Benign 342603 rs3732783 GRCh37: 3:113890789-113890789
GRCh38: 3:114171942-114171942
24 DRD3 NM_000796.6(DRD3):c.25G>A (p.Gly9Ser) SNV Benign 16770 rs6280 GRCh37: 3:113890815-113890815
GRCh38: 3:114171968-114171968
25 DRD3 NM_000796.6(DRD3):c.987A>G (p.Gln329=) SNV Benign 342596 rs61735073 GRCh37: 3:113849984-113849984
GRCh38: 3:114131137-114131137

Expression for Essential Tremor

Search GEO for disease gene expression data for Essential Tremor.

Pathways for Essential Tremor

Pathways related to Essential Tremor according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.05 SNCA SLC6A3 SLC1A2 PRKN LRRK2 HTRA2
2
Show member pathways
12.37 SNCA SLC6A3 PRKN LRRK2 HTRA2
3 11.97 SNCA SLC1A2 PRKN LRRK2 LINGO1 FMR1
4 10.95 SNCA SLC6A3 PRKN LRRK2 HTRA2
5 10.84 SNCA SLC6A3 PRKN
6
Show member pathways
10.73 SLC6A3 DRD3

GO Terms for Essential Tremor

Cellular components related to Essential Tremor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.65 TENM4 SLC6A3 PRKN LRRK2 FMR1
2 axon GO:0030424 9.55 SNCA SLC6A3 SLC1A2 LRRK2 FMR1
3 neuronal cell body GO:0043025 9.35 SNCA SLC6A3 LRRK2 FUS FMR1
4 inclusion body GO:0016234 9.32 SNCA LRRK2
5 presynapse GO:0098793 8.92 SNCA SLC1A2 PRKN FMR1

Biological processes related to Essential Tremor according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.92 SNCA SLC6A3 SLC1A2 DRD3
2 cellular response to oxidative stress GO:0034599 9.79 SNCA LRRK2 HTRA2
3 mitochondrion organization GO:0007005 9.77 PRKN LRRK2 HTRA2
4 locomotory behavior GO:0007626 9.75 SLC6A3 PRKN DRD3
5 negative regulation of protein phosphorylation GO:0001933 9.74 SNCA PRKN LRRK2
6 adult locomotory behavior GO:0008344 9.67 HTRA2 PRKN SNCA
7 response to cocaine GO:0042220 9.65 DRD3 SLC6A3 SNCA
8 regulation of reactive oxygen species metabolic process GO:2000377 9.64 SNCA PRKN
9 regulation of neuron death GO:1901214 9.64 SNCA LRRK2
10 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.63 PRKN LRRK2
11 positive regulation of proteasomal protein catabolic process GO:1901800 9.63 PRKN FMR1
12 cellular protein catabolic process GO:0044257 9.62 PRKN HTRA2
13 cellular response to dopamine GO:1903351 9.61 PRKN LRRK2
14 behavioral response to cocaine GO:0048148 9.6 SNCA DRD3
15 prepulse inhibition GO:0060134 9.58 SLC6A3 DRD3
16 regulation of dopamine secretion GO:0014059 9.58 DRD3 PRKN SNCA
17 negative regulation of voltage-gated calcium channel activity GO:1901386 9.56 FMR1 DRD3
18 negative regulation of neuron death GO:1901215 9.56 HTRA2 LRRK2 PRKN SNCA
19 dopamine biosynthetic process GO:0042416 9.55 SNCA SLC6A3
20 cellular response to manganese ion GO:0071287 9.54 PRKN LRRK2
21 regulation of neurotransmitter secretion GO:0046928 9.54 FMR1 PRKN SNCA
22 regulation of dopamine metabolic process GO:0042053 9.52 SLC6A3 PRKN
23 protein localization to mitochondrion GO:0070585 9.51 LRRK2 PRKN
24 dopamine metabolic process GO:0042417 9.5 DRD3 PRKN SNCA
25 positive regulation of dopamine receptor signaling pathway GO:0060161 9.46 DRD3 LRRK2
26 regulation of synaptic vesicle transport GO:1902803 9.43 LRRK2 PRKN
27 synaptic transmission, dopaminergic GO:0001963 9.33 DRD3 PRKN SNCA
28 regulation of locomotion GO:0040012 9.13 DRD3 LRRK2 SNCA
29 dopamine uptake involved in synaptic transmission GO:0051583 8.8 PRKN SLC6A3 SNCA

Molecular functions related to Essential Tremor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.5 TENM4 SNCA PRKN LRRK2 HTRA2 FUS
2 dynein complex binding GO:0070840 9.16 SNCA FMR1
3 phospholipase binding GO:0043274 8.62 SNCA PRKN

Sources for Essential Tremor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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