MCID: ESS001
MIFTS: 56

Essential Tremor

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

Aliases & Classifications for Essential Tremor

MalaCards integrated aliases for Essential Tremor:

Name: Essential Tremor 12 52 25 53 36 29 54 6 43 15 17 71 32
Hereditary Essential Tremor 52 25 6
Benign Essential Tremor 12 52 25
Familial Tremor 25 71
Essential Tremor, Susceptibility to 6
Benign Essential Tremor Syndrome 74
Tremor, Hereditary Essential, 1 52
Essential Hereditary Tremor 12
Tremor Hereditary Essential 74
Familial Essential Tremor 52
Presenile Tremor Syndrome 52
Shaky Hand Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4990
KEGG 36 H01577
MeSH 43 D020329
SNOMED-CT 67 632009
ICD10 32 G25.0
UMLS 71 C0270736 C0393615

Summaries for Essential Tremor

Genetics Home Reference : 25 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 and movement disease, and has symptoms including tremor, action tremor and essential and other specified forms of tremor. An important gene associated with Essential Tremor is ETM2 (Essential Tremor 2), and among its related pathways/superpathways are Neuroscience and Parkinsons Disease Pathway. The drugs Pregabalin and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, thalamus and testes, and related phenotype is nervous system.

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

NIH Rare Diseases : 52 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 : 74 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 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 224)
# Related Disease Score Top Affiliating Genes
1 tremor 32.6 TENM4 SNCA PRKN MAPT LRRK2 HTRA2
2 movement disease 32.2 SNCA SLC6A3 PRKN MAPT LRRK2 FUS
3 dystonia 31.3 SLC6A3 PRKN LRRK2 FUS DRD3 ANO3
4 rem sleep behavior disorder 31.1 SNCA SLC6A3 MAPT LRRK2
5 migraine with or without aura 1 31.0 SLC6A3 SLC1A2 FMR1 DRD3
6 supranuclear palsy, progressive, 1 30.8 SNCA SLC6A3 PRKN MAPT LRRK2 FUS
7 sleep disorder 30.8 SNCA SLC6A3 MAPT
8 alcohol dependence 30.8 SNCA SLC6A3 SLC1A2 DRD3
9 machado-joseph disease 30.7 SNCA SLC6A3 PRKN
10 multiple system atrophy 1 30.6 SNCA SLC6A3 PRKN MAPT LRRK2 FMR1
11 restless legs syndrome 30.6 SNCA SLC6A3 SLC1A2 PRKN MAPT FMR1
12 aceruloplasminemia 30.6 SNCA SLC6A3 MAPT FMR1
13 frontotemporal dementia 30.5 SNCA MAPT LRRK2 FUS
14 early-onset parkinson's disease 30.5 SNCA PRKN LRRK2 DRD3
15 parkinson disease, late-onset 30.5 SNCA SLC6A3 PRKN MAPT LRRK2 LINGO2
16 dementia 30.5 SNCA SLC6A3 PRKN MAPT LRRK2 FUS
17 autosomal dominant cerebellar ataxia 30.4 SNCA PRKN MAPT LRRK2 FUS FMR1
18 amyotrophic lateral sclerosis 1 30.4 SNCA SLC6A3 SLC1A2 PRKN MAPT LRRK2
19 bipolar disorder 30.1 TENM4 SLC6A3 SLC1A2 MAPT DRD3
20 corticobasal degeneration 30.0 MAPT LRRK2
21 alzheimer disease 29.7 SNCA SLC6A3 SLC1A2 PRKN MAPT LRRK2
22 tremor, hereditary essential, 1 12.4
23 sensorineural hearing loss-early graying-essential tremor syndrome 12.4
24 tremor, hereditary essential, 5 12.3
25 tremor, hereditary essential, 2 12.3
26 tremor, hereditary essential, 3 12.2
27 tremor, hereditary essential, 4 12.2
28 primary orthostatic tremor 11.5
29 deep brain stimulation for movement disorders 11.5
30 mental retardation, autosomal recessive 48 11.4
31 dystonia 3, torsion, x-linked 11.2
32 nephronophthisis-like nephropathy 1 11.2
33 ataxia and polyneuropathy, adult-onset 10.6
34 primary lateral sclerosis, adult, 1 10.5 SNCA MAPT
35 parkinson disease, mitochondrial 10.5 PRKN LRRK2
36 drug psychosis 10.5 SLC6A3 DRD3
37 nominal aphasia 10.5 MAPT FUS
38 drug-induced mental disorder 10.5 SLC6A3 DRD3
39 akinetic mutism 10.5 SLC6A3 MAPT
40 hereditary late-onset parkinson disease 10.5 SNCA LRRK2 DNAJC13
41 substance-induced psychosis 10.5 SLC6A3 DRD3
42 lrrk2 parkinson disease 10.5 SNCA PRKN LRRK2
43 chronic tic disorder 10.5 DRD3 DNAJC13
44 parkinson disease 10 10.5 SNCA PRKN LRRK2
45 cocaine abuse 10.5 SNCA SLC6A3 DRD3
46 perry syndrome 10.5 SNCA MAPT FUS
47 coenzyme q10 deficiency, primary, 1 10.5 SNCA MAPT
48 cervical dystonia 10.5
49 juvenile-onset parkinson's disease 10.4 SNCA PRKN LRRK2
50 parkinson disease 15, autosomal recessive early-onset 10.4 SNCA 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

MGI Mouse Phenotypes related to Essential Tremor:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.36 DRD3 FMR1 HTRA2 LINGO1 LRRK2 MAPT

Drugs & Therapeutics for Essential Tremor

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

(show top 50) (show all 90)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
4
Remifentanil Approved Phase 4 132875-61-7 60815
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Iodine Approved, Investigational Phase 4 7553-56-2 807
7
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
8 Anticonvulsants Phase 4
9 Calcium, Dietary Phase 4
10 calcium channel blockers Phase 4
11 Hormones Phase 4
12 Tranquilizing Agents Phase 4
13 Anti-Anxiety Agents Phase 4
14 Psychotropic Drugs Phase 4
15 Antiparkinson Agents Phase 4
16 Excitatory Amino Acid Antagonists Phase 4
17 Excitatory Amino Acids Phase 4
18 Antihypertensive Agents Phase 4
19 Anti-Arrhythmia Agents Phase 4
20 Adrenergic Antagonists Phase 4
21 Vasodilator Agents Phase 4
22 Anesthetics Phase 4
23 Anesthetics, General Phase 4
24 Central Nervous System Depressants Phase 4
25 Anesthetics, Intravenous Phase 4
26 Analgesics Phase 4
27 Adrenergic Agents Phase 4
28 Adrenergic alpha-2 Receptor Agonists Phase 4
29 Analgesics, Non-Narcotic Phase 4
30 Hypnotics and Sedatives Phase 4
31 Adrenergic Agonists Phase 4
32 Narcotics Phase 4
33 Analgesics, Opioid Phase 4
34 Pharmaceutical Solutions Phase 4
35 Calamus Phase 4
36 cadexomer iodine Phase 4
37
Cocaine Approved, Illicit Phase 3 50-36-2 5760 446220
38
Topiramate Approved Phase 3 97240-79-4 5284627
39
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492 6473866
40
Pancrelipase Approved, Investigational Phase 2, Phase 3 53608-75-6
41
Dopamine Approved Phase 3 51-61-6, 62-31-7 681
42 Anesthetics, Local Phase 3
43 Vasoconstrictor Agents Phase 3
44 Dopamine Uptake Inhibitors Phase 3
45 Hypoglycemic Agents Phase 3
46 Gastrointestinal Agents Phase 2, Phase 3
47 pancreatin Phase 2, Phase 3
48 Immunosuppressive Agents Phase 2, Phase 3
49 Immunologic Factors Phase 2, Phase 3
50 Calcineurin Inhibitors Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 190)
# 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 RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) Completed NCT00998660 Phase 4
3 A Pilot Clinical Trial of Memantine for Essential Tremor Completed NCT00439699 Phase 4 Memantine
4 A 17 Week, Investigator-initiated, Single-center, Double-blind, Randomized, Placebo-controlled, Cross-over Trial of Pregabalin in Essential Tremor Completed NCT00646451 Phase 4 pregabalin;placebo capsules
5 Propranolol and Botulinum Toxin for Essential Vocal Tremor Completed NCT02111369 Phase 4 Propranolol
6 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
7 RNS® System Long-term Treatment (LTT) Clinical Investigation Completed NCT00572195 Phase 4
8 Effects of Anesthesia Drugs on Neuronal Activity in the Basal Ganglia and Thalamus During Deep Brain Stimulation Electrode Implantation Surgery Recruiting NCT03283150 Phase 4 Remifentanil;Propofol;Dexmedetomidine
9 Atlas Predicted DBS Settings in Essential Tremor Active, not recruiting NCT02678429 Phase 4
10 DaTSCAN Imaging in Aging and Neurodegenerative Disease Enrolling by invitation NCT01453127 Phase 4 I-123 Ioflupane solution injection prior to SPECT scan (DaTscan)
11 Evaluation of the Diagnostic Accuracy and Safety of 123 I-ALTROPANE® as an Imaging Agent to Aid in the Diagnosis of Parkinsonian Syndromes (POET-2) Unknown status NCT00724906 Phase 3 123 I - ALTROPANE®
12 Novel Therapies for Essential Tremor Completed NCT00018564 Phase 3 treatments for essential tremor
13 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
14 A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in the Treatment of Essential Tremor Completed NCT00236496 Phase 3 topiramate
15 SANTE - Stimulation of the Anterior Nucleus of the Thalamus for Epilepsy Completed NCT00101933 Phase 3
16 RNS® System Pivotal-A Clinical Investigation Completed NCT00264810 Phase 3
17 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
18 Conversion From Immediate Release Tacrolimus to Envarsus XR® in Simultaneous Pancreas-Kidney Recipients: Assessment of Functional, Safety and Quality of Life Outcomes (CIRTEN SPK) Recruiting NCT03769298 Phase 2, Phase 3 Envarsus XR
19 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 Not yet recruiting NCT04193527 Phase 3 DaTSCAN™ Ioflupane (123I) Injection
20 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
21 Dexmedetomidine Effects on Microelectrode Recording in Deep Brain Stimulation Withdrawn NCT00608231 Phase 2, Phase 3 Dexmedetomidine Hydrochloride Infusion;Normal Saline
22 A Double-Blind, Cross-Over, Placebo-Controlled Efficacy and Tolerability Study of Perampanel and Essential Tremor Unknown status NCT02668146 Phase 2 Perampanel;Placebo
23 Left, Right, or Bilateral Thalamic Deep Brain Stimulation for Voice Tremor: A Prospective, Randomized, Double-Blinded Trial Unknown status NCT02960243 Phase 1, Phase 2
24 Randomised Crossover Trial of Deep Brain Stimulation of Differential Posterior Subthalamic Area Regions in Parkinson's Disease and Tremor Unknown status NCT01945567 Phase 2
25 Multicenter, Randomized Trial on the Effects of Pallidal Deep Brain Stimulation for Tardive Dystonia Unknown status NCT00331669 Phase 2
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 Treatment Efficacy of 1-Octanol Compared to Placebo in Adults With Essential Tremor Completed NCT00080366 Phase 2 1-Octanol
28 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
29 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
30 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;Placebo
31 Efficacy of Levetiracetam in Patients With Essential Tremor Completed NCT00620165 Phase 1, Phase 2 levetiracetam;placebo
32 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
33 Novel Therapies for Essential Tremor - Zonisamide Pilot Study Completed NCT00223743 Phase 2 Zonisamide
34 Effects of Octanoic Acid for Treatment of Essential Voice Tremor Completed NCT01864525 Phase 1, Phase 2 Octanoic acid;Inactive capsule
35 Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor Completed NCT00102596 Phase 2 1-Octanol
36 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
37 Effect of Alcohol on Physiologic and Pathologic Tremors Completed NCT00001925 Phase 2 Alcohol
38 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
39 Double-Blind, Placebo Controlled Pilot-Study of Octanoic Acid in Essential Tremor Completed NCT00848172 Phase 1, Phase 2 Octanoic Acid;Placebo
40 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Study of CX-8998 for Essential Tremor Completed NCT03101241 Phase 2 CX-8998;Placebo
41 RNS® System Feasibility Clinical Investigation Completed NCT00079781 Phase 2
42 A Double-Blind, Cross-Over, Placebo- Controlled Efficacy and Tolerability Study of Oral Cannabidiol (CBD) and Tetrahydrocannabinol (THC) for Essential Tremor (ET). Recruiting NCT03805750 Phase 1, Phase 2 CBD/THC;Placebo oral capsule
43 Transcranial Static Magnetic Field Stimulation (tSMS) in Essential Tremor Recruiting NCT03780426 Phase 2
44 An Evaluation of Effectiveness and Toxicity of CyberKnife Based Functional Radiosurgery for Parkinson Disease Patients Suffering From Tremor and Its Implementation in Poland Recruiting NCT02406105 Phase 2 CyberKnife
45 Deep Brain Stimulation Surgery for Treatment of Focal Hand Dystonia Recruiting NCT02911103 Phase 1, Phase 2
46 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
47 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
48 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
49 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
50 Phase II Efficacy and Safety of Taro Pharmaceuticals' Pro-Drug T2000 (1,3-Dimethoxymethyl-5,5-Diphenyl-Barbituric Acid) In Patients With Myoclonus Dystonia: An Open Label Sequential Dose Escalation Study Terminated NCT00506012 Phase 2 T2000

Search NIH Clinical Center for Essential Tremor

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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
Brain, Thalamus, Testes, Cerebellum, Cortex, Tongue, Subthalamic Nucleus

Publications for Essential Tremor

Articles related to Essential Tremor:

(show top 50) (show all 3671)
# Title Authors PMID Year
1
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. 54 61 6
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. 54 61
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. 54 61
19527940 2010
10
Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. 54 61
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
[Nuclear neuroimaging of dopamine transporter in Parkinsonism--role in routine clinical practice]. 54 61
17969308 2007
17
Validation of a standardized normalization template for statistical parametric mapping analysis of 123I-FP-CIT images. 54 61
17704252 2007
18
Dopamine transporter immunoreactivity in peripheral blood lymphocytes discriminates Parkinson's disease from essential tremor. 54 61
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. 54 61
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. 54 61
12845452 2003
24
A linkage study of candidate loci in familial Parkinson's Disease. 54 61
12882651 2003
25
Essential tremor is not associated with alpha-synuclein gene haplotypes. 54 61
12815663 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
The effects of thalamic and posterior subthalamic deep brain stimulation on speech in patients with essential tremor - A prospective, randomized, doubleblind crossover study. 61
31884313 2020
29
Demoralization in essential tremor: prevalence, clinical correlates, and dissociation from tremor severity. 61
30940264 2020
30
Models of hyperkinetic disorders in primates. 61
31857131 2020
31
Sex differences in movement disorders. 61
31900464 2020
32
Neuropathology of Lewy body disease: Clinicopathological crosstalk between typical and atypical cases. 61
31498507 2020
33
Does This Patient Have Parkinson Disease or Essential Tremor? 61
31733699 2020
34
Neuroimaging of Deep Brain Stimulation. 61
31761059 2020
35
Symptomatic Pneumocephalus after Deep Brain Stimulation Surgery: Report of 2 Cases. 61
32018273 2020
36
Striatal and Thalamic Auditory Response During Deep Brain Stimulation for Essential Tremor: Implications for Psychosis. 61
32022409 2020
37
The "Caring Giver": Emotional Caregiving in the Setting of Essential Tremor. 61
31795910 2020
38
Treatment of essential tremor: current status. 61
31575730 2020
39
"Essential Tremor Plus": A Problematic Concept: Implications for Clinical and Epidemiological Studies of Essential Tremor. 61
32023613 2020
40
Essential tremor pathology: neurodegeneration and reorganization of neuronal connections. 61
31959938 2020
41
MR-guided focused ultrasound cerebellothalamic tractotomy for chronic therapy-resistant essential tremor: anatomical target reappraisal and clinical results. 61
32032945 2020
42
DBS dysfunction mimicking transient ischemic attacks-a case report. 61
32034494 2020
43
Frameless Deep Brain Stimulation Surgery: A Single-Center Experience and Retrospective Analysis of Placement Accuracy of 220 Electrodes in a Series of 110 Patients. 61
31935742 2020
44
Implementation of New Technology in Patients with Chronic Deep Brain Stimulation: Switching from Non-Rechargeable Constant Voltage to Rechargeable Constant Current Stimulation. 61
31945765 2020
45
Tremor Relief and Structural Integrity after MRI-guided Focused US Thalamotomy in Tremor Disorders. 61
31909701 2020
46
Multitarget deep brain stimulation for clinically complex movement disorders. 61
31899879 2020
47
Anti-Tremor Action of Subtype Selective Positive Allosteric Modulators of GABAA Receptors in a Rat Model of Essential Tremors. 61
31989440 2020
48
β-adrenoreceptors and the risk of Parkinson's disease. 61
31999942 2020
49
Focal limb dystonia and tremor: Clinical update. 61
31965968 2020
50
Levodopa-responsive parkinsonism in a patient with corticobasal degeneration and bilateral choroid plexus xanthogranulomas. 61
31537463 2020

Variations for Essential Tremor

ClinVar genetic disease variations for Essential Tremor:

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAJC13 NM_015268.4(DNAJC13):c.2564A>G (p.Asn855Ser)SNV Conflicting interpretations of pathogenicity 56171 rs387907571 3:132196839-132196839 3:132477995-132477995
2 DRD3 NM_000796.5(DRD3):c.1077C>T (p.His359=)SNV Conflicting interpretations of pathogenicity 342595 rs3732791 3:113847689-113847689 3:114128842-114128842
3 DRD3 NM_000796.5(DRD3):c.-281A>GSNV Uncertain significance 342609 rs199852439 3:113897749-113897749 3:114178902-114178902
4 DRD3 NM_000796.5(DRD3):c.383+7C>TSNV Uncertain significance 342600 rs200206712 3:113878595-113878595 3:114159748-114159748
5 DRD3 NM_000796.5(DRD3):c.691T>A (p.Cys231Ser)SNV Uncertain significance 342599 rs150042478 3:113858379-113858379 3:114139532-114139532
6 DRD3 NM_000796.5(DRD3):c.302T>G (p.Ile101Ser)SNV Uncertain significance 342601 rs886057789 3:113878683-113878683 3:114159836-114159836
7 DRD3 NM_000796.5(DRD3):c.821G>A (p.Gly274Glu)SNV Uncertain significance 342597 rs200825904 3:113850150-113850150 3:114131303-114131303
8 DRD3 NM_000796.5(DRD3):c.270+14A>GSNV Uncertain significance 342602 rs75091114 3:113890556-113890556 3:114171709-114171709
9 DRD3 NM_000796.5(DRD3):c.-114A>GSNV Uncertain significance 342606 rs886057790 3:113897582-113897582 3:114178735-114178735
10 DRD3 NM_000796.5(DRD3):c.-153T>GSNV Uncertain significance 342607 rs200345655 3:113897621-113897621 3:114178774-114178774
11 DRD3 NM_000796.5(DRD3):c.-318C>TSNV Uncertain significance 342611 rs201561838 3:113897786-113897786 3:114178939-114178939
12 DRD3 NM_000796.5(DRD3):c.1151C>A (p.Thr384Asn)SNV Uncertain significance 342594 rs886057788 3:113847615-113847615 3:114128768-114128768
13 DRD3 NM_000796.5(DRD3):c.-38A>CSNV Uncertain significance 342604 rs201872343 3:113897506-113897506 3:114178659-114178659
14 DRD3 NM_000796.5(DRD3):c.-388T>ASNV Uncertain significance 342613 rs886057791 3:113897856-113897856 3:114179009-114179009
15 DRD3 NM_000796.5(DRD3):c.-333G>ASNV Likely benign 342612 rs36212175 3:113897801-113897801 3:114178954-114178954
16 DRD3 NM_000796.5(DRD3):c.-105G>ASNV Likely benign 342605 rs36211802 3:113897573-113897573 3:114178726-114178726
17 DRD3 NM_000796.5(DRD3):c.-252C>TSNV Likely benign 342608 rs36211803 3:113897720-113897720 3:114178873-114178873
18 DRD3 NM_000796.5(DRD3):c.51A>G (p.Ala17=)SNV Likely benign 342603 rs3732783 3:113890789-113890789 3:114171942-114171942
19 DRD3 NM_000796.5(DRD3):c.25G>A (p.Gly9Ser)SNV Likely benign 16770 rs6280 3:113890815-113890815 3:114171968-114171968
20 DRD3 NM_033663.5(DRD3):c.720= (p.Gln240=)SNV Likely benign 342598 rs2251177 3:113858350-113858350 3:114139503-114139503
21 DRD3 NM_000796.5(DRD3):c.-286A>CSNV Likely benign 342610 rs190248679 3:113897754-113897754 3:114178907-114178907
22 DRD3 NM_000796.5(DRD3):c.987A>G (p.Gln329=)SNV Benign/Likely benign 342596 rs61735073 3:113849984-113849984 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 11.7 SNCA SLC1A2 PRKN MAPT LRRK2 LINGO1
2 11.28 SNCA SLC6A3 PRKN LRRK2 HTRA2
3 10.84 SNCA SLC6A3 PRKN

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 postsynapse GO:0098794 9.63 SNCA LRRK2 FMR1
2 neuron projection GO:0043005 9.63 TENM4 SLC6A3 PRKN MAPT LRRK2 FMR1
3 growth cone GO:0030426 9.56 SNCA MAPT LRRK2 FMR1
4 synaptic vesicle membrane GO:0030672 9.54 SNCA LRRK2 DRD3
5 inclusion body GO:0016234 9.48 SNCA LRRK2
6 axolemma GO:0030673 9.43 SLC1A2 MAPT
7 neuronal cell body GO:0043025 9.43 SNCA SLC6A3 MAPT LRRK2 FUS FMR1
8 dopaminergic synapse GO:0098691 9.4 SLC6A3 DRD3
9 glial cell projection GO:0097386 9.32 MAPT FMR1
10 axon GO:0030424 9.1 SNCA SLC6A3 SLC1A2 MAPT LRRK2 FMR1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.94 SNCA SLC6A3 SLC1A2 DRD3
2 cellular response to oxidative stress GO:0034599 9.79 SNCA LRRK2 HTRA2
3 mitochondrion organization GO:0007005 9.78 PRKN LRRK2 HTRA2
4 locomotory behavior GO:0007626 9.77 SLC6A3 PRKN DRD3
5 negative regulation of protein phosphorylation GO:0001933 9.76 SNCA PRKN LRRK2
6 regulation of autophagy GO:0010506 9.73 PRKN MAPT LRRK2
7 adult locomotory behavior GO:0008344 9.67 SNCA PRKN HTRA2
8 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.65 PRKN LRRK2
9 regulation of neuron death GO:1901214 9.65 SNCA LRRK2
10 behavioral response to cocaine GO:0048148 9.65 SNCA DRD3
11 cellular protein catabolic process GO:0044257 9.64 PRKN HTRA2
12 positive regulation of proteasomal protein catabolic process GO:1901800 9.63 PRKN FMR1
13 cellular response to dopamine GO:1903351 9.63 PRKN LRRK2
14 response to cocaine GO:0042220 9.63 SNCA SLC6A3 DRD3
15 negative regulation of voltage-gated calcium channel activity GO:1901386 9.62 FMR1 DRD3
16 prepulse inhibition GO:0060134 9.62 SLC6A3 DRD3
17 supramolecular fiber organization GO:0097435 9.59 SNCA MAPT
18 dopamine biosynthetic process GO:0042416 9.58 SNCA SLC6A3
19 regulation of dopamine secretion GO:0014059 9.58 SNCA PRKN DRD3
20 regulation of dopamine metabolic process GO:0042053 9.57 SLC6A3 PRKN
21 cellular response to manganese ion GO:0071287 9.55 PRKN LRRK2
22 regulation of mitochondrial fission GO:0090140 9.54 MAPT LRRK2
23 regulation of neurotransmitter secretion GO:0046928 9.54 SNCA PRKN FMR1
24 intracellular distribution of mitochondria GO:0048312 9.52 MAPT LRRK2
25 protein localization to mitochondrion GO:0070585 9.51 PRKN LRRK2
26 synaptic transmission, dopaminergic GO:0001963 9.5 SNCA PRKN DRD3
27 positive regulation of dopamine receptor signaling pathway GO:0060161 9.48 LRRK2 DRD3
28 negative regulation of neuron death GO:1901215 9.46 SNCA PRKN LRRK2 HTRA2
29 regulation of synaptic vesicle transport GO:1902803 9.43 PRKN LRRK2
30 dopamine metabolic process GO:0042417 9.43 SNCA PRKN DRD3
31 regulation of locomotion GO:0040012 9.13 SNCA LRRK2 DRD3
32 dopamine uptake involved in synaptic transmission GO:0051583 8.8 SNCA SLC6A3 PRKN

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

# Name GO ID Score Top Affiliating Genes
1 microtubule binding GO:0008017 9.46 SNCA MAPT LRRK2 FMR1
2 phospholipase binding GO:0043274 9.32 SNCA PRKN
3 dopamine binding GO:0035240 9.26 SLC6A3 DRD3
4 identical protein binding GO:0042802 9.23 TENM4 SNCA PRKN MAPT LRRK2 HTRA2
5 tubulin binding GO:0015631 9.13 PRKN MAPT LRRK2

Sources for Essential Tremor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....