ETM1
MCID: ESS001
MIFTS: 63

Essential Tremor (ETM1) malady

Neuronal diseases, Genetic diseases categories

Summaries for Essential Tremor

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Essential tremor is a disorder of the nervous system that causes involuntary, rhythmic shaking (tremor), especially in the hands. it involves tremor without any other signs or symptoms, and is distinguished from tremor that results from other disorders or known causes, such as tremors seen with parkinson disease or head trauma. essential tremor (sometimes called benign essential tremor) is the most common of the more than 20 types of tremor. essential tremor is a complex disorder. several genes are believed to help determine an individual's risk of developing this condition. environmental factors may also be involved. in mild cases, treatment may not be necessary. in cases where symptoms interfere with daily living, medications may help to relieve symptoms.    last updated: 5/6/2013

MalaCards: Essential Tremor, also known as tremor hereditary essential, 1, is related to parkinson's disease and movement disease. An important gene associated with Essential Tremor is DRD3 (dopamine receptor D3), and among its related pathways are Alpha-synuclein signaling and Parkinsons Disease Pathway. The drugs propranolol and propranolol hydrochloride and the compounds 1-benzyl-1,2,3,4-tetrahydroisoquinoline and 1 methyl 4 phenylpyridinium have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and thalamus, and related mouse phenotypes are behavior/neurological and nervous system.

Genetics Home Reference:21 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.

NINDS:43 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.)

Wikipedia:63 Essential tremor (ET, also referred to as benign tremor or familiar tremor) is the most common movement... more...

Description from OMIM:46 190300

Aliases & Classifications for Essential Tremor

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 9diseasecard, 20GeneTests, 22GTR, 34MeSH, 56SNOMED-CT, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Neuronal diseases


Aliases & Descriptions:

essential tremor 8 42 21 43 46 10 44 60
tremor hereditary essential, 1 42 20 22
benign essential tremor 8 42 21
tremor, hereditary essential, 1 42 60
hereditary essential tremor 42 21
familial tremor 21 60
essential tremor, susceptibility to 9
tremor familial essential, 1 42
familial essential tremor 42
presenile tremor syndrome 42
fet1 42
etm1 42


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Disease Ontology8 DOID:4990
MeSH34 D020329
SNOMED-CT56 632009, 192839001
ICD1025 G25.0

Related Diseases for Essential Tremor

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17GeneCards, 18GeneDecks
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Diseases in the Essential Tremor family:

Tremor

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease31.4DRD3, SNCA, LRRK2, SLC6A3, PARK2
2movement disease30.4LRRK2, PRRT2, SNCA
3dementia30.4FMR1, ARSA, SNCA, LRRK2, SLC6A3, PARK2
4migraine30.2SLC6A3, PRRT2, DRD3
5multiple system atrophy30.2FMR1, SNCA, LRRK2, SLC6A3, PARK2
6schizophrenia30.2FMR1, DRD3, ARSA, SNCA, SLC6A3
7progressive supranuclear palsy30.0FUS, SLC6A3
8brain disease10.5
9cervicitis10.4
10restless legs syndrome10.3
11alzheimer's disease10.3
12neuronitis10.3
13tremor10.3
14cerebritis10.2
15familial dystonia10.2
16sarcoma10.2
17sensorineural hearing loss - early graying - essential tremor10.2
18normal pressure hydrocephalus10.0
19klinefelter's syndrome10.0
20blepharospasm10.0
21muscular atrophy10.0
22idiopathic familial dystonia10.0
23dysgraphia10.0
24apraxia10.0
25cerebellar ataxia10.0
26hydrocephalus10.0
27hypothyroidism10.0
28spinal muscular atrophy10.0
29thyroiditis10.0
30neurologic diseases10.0
31polymicrogyria turricephaly hypogenitalism10.0
32dysautonomia10.0SNCA
33aphasia10.0FUS
34lewy body dementia10.0SNCA, LRRK2, SLC6A3
35spinocerebellar ataxia type 310.0SLC6A3, SNCA
36parkinson disease type 310.0PARK2, LRRK2, SNCA
37rem sleep behavior disorder10.0SNCA, SLC6A3
38drug dependence10.0SLC6A3, DRD3
39tauopathy10.0PARK2, LRRK2, SNCA
40memory impairment10.0SLC6A3, SNCA, FMR1
41striatonigral degeneration10.0SNCA, SLC6A3
42personality disorder10.0SLC6A3, DRD3
43psychotic disorder10.0DRD3, ARSA, SLC6A3
44bipolar disorder10.0DRD3, SLC6A3
45frontotemporal dementia10.0SNCA, LRRK2, PARK2, FUS
46amyotrophic lateral sclerosis10.0FUS, SLC6A3, SNCA
47metachromatic leukodystrophy10.0ARSA
48prion disease10.0PARK2, SLC6A3, SNCA
49pathological gambling10.0DRD3, SLC6A3
50gilles de la tourette syndrome10.0DRD3, SLC6A3

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



Diseases related to essential tremor

Clinical Features for Essential Tremor

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46OMIM
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Clinical features from OMIM:

190300

Clinical synopsis from OMIM:

190300

Drugs & Therapeutics for Essential Tremor

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Essential Tremor

Search NIH Clinical Center for Essential Tremor

Search CenterWatch for Essential Tremor

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Essential Tremor

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20GeneTests, 22GTR
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Genetic tests related to Essential Tremor:

id Genetic test Affiliating Genes
1 Hereditary Essential Tremor 120 22 DRD3

Anatomical Context for Essential Tremor

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32MalaCards
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MalaCards organs/tissues related to Essential Tremor:

32
Brain, Cortex, Thalamus, Testes, Subthalamic nucleus, Cerebellum, Thyroid, Liver, Retina, Tongue

Animal Models for Essential Tremor or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Essential Tremor:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.9DRD3, ARSA, SNCA, GJD2, LRRK2, SLC6A3
2MP:00036319.4FUS, FMR1, DRD3, GABRQ, ARSA, SNCA

Publications for Essential Tremor

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50PubMed
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Articles related to Essential Tremor:

(show top 50)    (show all 551)
idTitleAuthorsYear
1
Re-thinking the biology of essential tremor: from models to morphology. (24262197)
2014
2
Continuous in-home monitoring of essential tremor. (24126021)
2014
3
VBM Reveals Brain Volume Differences between Parkinson's Disease and Essential Tremor Patients. (23785322)
2013
4
Octanoic acid in alcohol-responsive essential tremor: a randomized controlled study. (23408867)
2013
5
Prevalence and features of unreported dystonia in a family study of "pure" essential tremor. (23089243)
2013
6
Focused ultrasound thalamotomy improves essential tremor. (24151053)
2013
7
Predicting age of onset in familial essential tremor: how much does age of onset run in families? (23363932)
2013
8
Physiologic and acoustic patterns of essential vocal tremor. (23490130)
2013
9
Cognitive motor interference during dual-task gait in essential tremor. (23369662)
2013
10
Loss of benefit in VIM thalamic deep brain stimulation (DBS) for essential tremor (ET): how prevalent is it? (23582712)
2013
11
Fused in Sarcoma (FUS) gene mutations are not a frequent cause of essential tremor in Europeans. (23731953)
2013
12
Clinical differentiation of essential tremor and Parkinson's disease. (23700378)
2013
13
Multisite, double-blind, randomized, controlled study of pregabalin for essential tremor. (23238907)
2013
14
Essential tremor followed by progressive supranuclear palsy: postmortem reports of 11 patients. (23242279)
2013
15
Update on treatment of essential tremor. (23881742)
2013
16
Autonomic function, as self-reported on the SCOPA-autonomic questionnaire, is normal in essential tremor but not in Parkinson's disease. (22771283)
2012
17
Blink reflex recovery cycle in patients with essential tremor associated with resting tremor. (22993289)
2012
18
The role of event-related potentials in subclinical cognitive dysfunction in essential tremor. (22353988)
2012
19
Acute effects of thalamic deep brain stimulation and thalamotomy on sensorimotor cortex local field potentials in essential tremor. (22633916)
2012
20
Essential tremor with ubiquitinated intranuclear inclusions and cerebellar degeneration. (22551915)
2012
21
Depressive traits in essential tremor: impact on disability, quality of life, and medication adherence. (22642492)
2012
22
Biomarkers demonstrate increased consumption, but not abuse, of ethanol in essential tremor. (22146903)
2012
23
SPECT study with I-123-Ioflupane (DaTSCAN) in patients with essential tremor. Is there any correlation with Parkinson's disease? (22382608)
2012
24
Is there a role for combined EMG-fMRI in exploring the pathophysiology of essential tremor and improving functional neurosurgery? (23049695)
2012
25
Essential tremor is not a neurodegenerative disease. (23105950)
2012
26
Prevalence of essential tremor in urban Lagos, Nigeria: a door-to-door community-based study. (23017021)
2012
27
A family with Parkinsonism, essential tremor, restless legs syndrome, and depression. (21555728)
2011
28
Action tremor caused by olivary cavernoma in Klippel-TrAcnaunay syndrome mimicking asymmetric essential tremor. (20668889)
2011
29
Scaling analysis of bilateral hand tremor movements in essential tremor patients. (21331462)
2011
30
Bilateral cerebellorubrothalamic fibers stimulation for essential tremor? (21480371)
2011
31
MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy. (21321341)
2011
32
Validation of digital spiral analysis as outcome parameter for clinical trials in essential tremor. (21714004)
2011
33
A clinical test for the alcohol sensitivity of essential tremor. (22021159)
2011
34
Color vision in Parkinson's disease and essential tremor. (21435106)
2011
35
Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor. (20670416)
2010
36
Development of an essential tremor embarrassment assessment. (20869901)
2010
37
Replication of the LINGO1 gene association with essential tremor in a North American population. (20372186)
2010
38
Overview of essential tremor. (20856604)
2010
39
Neuronal firing in the ventrolateral thalamus of patients with Parkinson's disease differs from that with essential tremor. (20368089)
2010
40
Brain structural changes in essential tremor: voxel-based morphometry at 3-Tesla. (19717167)
2009
41
Population-based study of baseline ethanol consumption and risk of incident essential tremor. (19359288)
2009
42
Cancer and blood concentrations of the comutagen harmane in essential tremor. (18709680)
2008
43
Irregularity distinguishes limb tremor in cervical dystonia from essential tremor. (17872981)
2008
44
From essential tremor to Klinefelter through Fragile X, an unexpected journey. (18464279)
2008
45
Environmental epidemiology of essential tremor. (18716411)
2008
46
Essential tremor: from a monosymptomatic disorder to a more complex entity. (18784419)
2008
47
Genetic essential tremor in gamma-aminobutyric acidA receptor alpha1 subunit knockout mice. (15765150)
2005
48
Arm tremor in cervical dystonia differs from essential tremor and can be classified by onset age and spread of symptoms. (11522579)
2001
49
Arylsulphatase A (ASA) activity in parkinsonism and symptomatic essential tremor. (7913281)
1994
50
Manic-depressive illness associated with Klinefelter's syndrome and essential tremors. (655296)
1978

Genetic Variations for Essential Tremor

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Expression for genes affiliated with Essential Tremor

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Essential Tremor

Search GEO for disease gene expression data for Essential Tremor.

Pathways for genes affiliated with Essential Tremor

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37NCBI BioSystems Database, 4Cell Signaling Technology, 29KEGG, 53Reactome, 12EMD Millipore
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Compounds for genes affiliated with Essential Tremor

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB
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Compounds related to Essential Tremor according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
11-benzyl-1,2,3,4-tetrahydroisoquinoline4410.8SLC6A3, SNCA
21 methyl 4 phenylpyridinium4410.7PARK2, SLC6A3, SNCA
3duloxetine44 49 28 1113.7SLC6A3, DRD3
4raclopride44 2811.7DRD3, SLC6A3
5piperazine44 1111.7DRD3, SLC6A3
6dopac4410.7DRD3, PARK2
7apomorphine44 28 1112.7DRD3, SNCA, SLC6A3
86-hydroxydopamine4410.7PARK2, SLC6A3, SNCA, DRD3
9mptp4410.7DRD3, SNCA, SLC6A3, PARK2
10methamphetamine44 49 1112.7SLC6A3, SNCA, DRD3
11rotenone4410.7SNCA, SLC6A3, PARK2
12Clorazepate1110.6GABRQ, GABRR3, GABRE
13catecholamine4410.6PARK2, SNCA, DRD3
14bromazepam44 1111.6GABRQ, GABRR3, GABRE
15nitrazepam44 1111.6GABRQ, GABRR3, GABRE
16Temazepam1110.6GABRQ, GABRR3, GABRE
17lorazepam44 49 1112.6GABRQ, GABRR3, GABRE
18flurazepam44 1111.6GABRQ, GABRR3, GABRE
19levodopa44 1111.6PARK2, SLC6A3, LRRK2, SNCA, DRD3
20oxazepam49 1111.6GABRQ, GABRR3, GABRE
21clobazam44 49 1112.6GABRQ, GABRR3, GABRE
22chlordiazepoxide44 1111.6GABRQ, GABRR3, GABRE
23Fludiazepam1110.6GABRR3, GABRE
24tbps44 2811.6GABRQ, GABRR3, GABRE
25clonazepam44 1111.6GABRQ, GABRR3, GABRE
26Halazepam1110.6GABRR3, GABRE
27muscimol44 59 2812.6GABRQ, GABRR3, GABRE
28picrotoxin44 28 1112.6GABRQ, GABRR3, GABRE
29(+)-bicuculline5910.6GABRQ, GABRE
30Cinolazepam1110.6GABRR3, GABRE
31sulpiride44 28 1112.6DRD3, SLC6A3
32triazolam44 1111.6GABRQ, GABRR3, GABRE
33alprazolam44 1111.6GABRE, GABRR3, GABRQ
34(-)-bicuculline methochloride5910.6GABRQ, GABRE
35midazolam44 49 1112.6GABRQ, GABRR3, GABRE
36(-)-bicuculline methiodide5910.6GABRQ, GABRE
37sr 95531 hydrobromide5910.5GABRQ, GABRE
38gaba4410.5FMR1, GABARAP, GJD2, SLC6A3
39diazepam44 49 28 1113.5GABRQ, GABRR3, GABRE, GABARAP
40dopamine44 28 11 2413.5PARK2, SLC6A3, LRRK2, GJD2, SNCA, DRD3
41Prazepam1110.5GABRR3, GABRE
42estazolam44 1111.5GABRE, GABRR3
43Adinazolam1110.5GABRE, GABRR3
44quazepam44 1111.4GABRE, GABRR3
45quinpirole44 2811.4SLC6A3, DRD3
46Clotiazepam1110.3GABRE, GABRR3
47chlorine44 2411.3GABRQ, GABRR3, GABRE
48cocaine44 1111.3DRD3, SNCA, SLC6A3
49hydrazine4410.2SLC6A3, HNMT
50pramipexole44 49 28 1113.1SLC6A3, DRD3

GO Terms for genes affiliated with Essential Tremor

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16Gene Ontology
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Cellular components related to Essential Tremor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell junctionGO:0300549.9PRRT2, SNCA, GABRE, GABRR3, GABRQ
2chloride channel complexGO:0347079.9GABRQ, GABRR3, GABRE
3plasma membraneGO:0058869.7GABRR3, GABARAP, ARSA, SNCA, PRRT2, LINGO1

Biological processes related to Essential Tremor according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dopamine receptor signaling pathwayGO:06016110.6DRD3, LRRK2
2regulation of locomotionGO:04001210.5LRRK2, SNCA, DRD3
3neuron deathGO:07099710.5PARK2, LRRK2
4response to cocaineGO:04222010.5SLC6A3, DRD3, HNMT
5dopamine biosynthetic processGO:04241610.5SLC6A3, SNCA
6regulation of dopamine secretionGO:01405910.5DRD3, SNCA
7behavioral response to cocaineGO:04814810.4SNCA, DRD3
8negative regulation of oligodendrocyte differentiationGO:04871510.3LINGO1, DRD3
9prepulse inhibitionGO:06013410.3DRD3, SLC6A3
10synaptic transmissionGO:00726810.1SLC6A3, GJD2, GABARAP, GABRR3
11gamma-aminobutyric acid signaling pathwayGO:00721410.0GABRE, GABRR3

Molecular functions related to Essential Tremor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:03524010.4SLC6A3, DRD3
2GABA-A receptor activityGO:00489010.2GABRE, GABRR3, GABRQ
3extracellular ligand-gated ion channel activityGO:00523010.1GABRQ, GABRR3, GABRE
4chloride channel activityGO:0052549.9GABRE, GABRR3, GABRQ

Products for genes affiliated with Essential Tremor

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Sources for Essential Tremor

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet