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:

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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
Investigating the role of FUS exonic variants in essential tremor. (23601511)
2013
2
Effect of lead trajectory on the response of essential head tremor to deep brain stimulation. (23742969)
2013
3
Optimal target of deep brain stimulation for essential tremor. (23037825)
2013
4
Postural and Intention Tremors: A Detailed Clinical Study of Essential Tremor vs. Parkinson's Disease. (23717300)
2013
5
The primary type of tremor in essential tremor is kinetic rather than postural: cross-sectional observation of tremor phenomenology in 369 cases. (22925197)
2013
6
Lies tell the truth about cognitive dysfunction in essential tremor: an experimental deception study with the guilty knowledge task. (23595946)
2013
7
SLC1A2 variant associated with essential tremor but not Parkinson disease in Chinese subjects. (23596072)
2013
8
Meta-analysis of the influence of DRD3 Ser9Gly variant on susceptibility for essential tremor. (24054403)
2013
9
Thalamic and subthalamic deep brain stimulation for essential tremor: where is the optimal target? (22426044)
2012
10
Psychiatric disorders in patients with essential tremor. (22658234)
2012
11
Purkinje cell loss is a characteristic of essential tremor: towards a more mature understanding of pathogenesis. (22795481)
2012
12
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor. (22764253)
2012
13
H1-MAPT and the risk for familial essential tremor. (22911817)
2012
14
Cognitive features of essential tremor: a review of the clinical aspects and possible mechanistic underpinnings. (23440004)
2012
15
Long term follow-up of deep brain stimulation of the caudal zona incerta for essential tremor. (22205676)
2012
16
No evidence of association between the LINGO4 gene and essential tremor in Chinese Han patients. (22104011)
2012
17
Withdrawal of visual feedback in essential tremor. (22189278)
2012
18
Pramipexole may be an effective treatment option in essential tremor. (22318193)
2012
19
Reliability of a new scale for essential tremor. (23032792)
2012
20
Interleaving deep brain stimulation for a patient with both Parkinson's disease and essential tremor. (23115125)
2012
21
Worsening essential tremor following deep brain stimulation: disease progression versus tolerance. (22344584)
2012
22
Neurofilament protein levels: quantitative analysis in essential tremor cerebellar cortex. (22561033)
2012
23
Teaching video neuroimages: essential palatal tremor: is it a peripherally triggered central movement disorder? (23071173)
2012
24
Essential tremor--a neurodegenerative disorder associated with cognitive defects? (21487422)
2011
25
Synchronous pattern distinguishes resting tremor associated with essential tremor from rest tremor of Parkinson's disease. (21071257)
2011
26
Tremor is attenuated during walking in essential tremor with resting tremor but not parkinsonian tremor. (21745741)
2011
27
Essential tremor quantification during activities of daily living. (21570891)
2011
28
Association between essential tremor and other neurodegenerative diseases: what is the epidemiological evidence? (21757958)
2011
29
Tongue tremor: a rare initial presentation of essential tremor. (21652126)
2011
30
Functional connectivity targeting for deep brain stimulation in essential tremor. (21885716)
2011
31
Unilateral subdural motor cortex stimulation improves essential tremor but not Parkinson's disease. (21646329)
2011
32
Lingo2 variants associated with essential tremor and Parkinson's disease. (21287203)
2011
33
Essential tremor--not just a shake. (21447421)
2011
34
Essential tremor with ubiquitinated Purkinje cell intranuclear inclusions. (20107820)
2010
35
No association between essential tremor and migraine: a case-control study. (20511207)
2010
36
GABAergic dysfunction in essential tremor: an 11C-flumazenil PET study. (20554735)
2010
37
Adaptively controlling deep brain stimulation in essential tremor patient via surface electromyography. (20712926)
2010
38
Gamma Knife thalamotomy for treatment of essential tremor: long-term results. (19895197)
2010
39
Deep brain stimulation for essential tremor: a systematic review. (20623768)
2010
40
Faster rate of cognitive decline in essential tremor cases than controls: a prospective study. (20561042)
2010
41
Gait and balance in essential tremor: variable effects of bilateral thalamic stimulation. (19006189)
2009
42
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (18718804)
2009
43
Synchronized brain network associated with essential tremor as revealed by magnetoencephalography. (19514010)
2009
44
Older onset essential tremor: More rapid progression and more degenerative pathology. (19526587)
2009
45
Distinguishing Parkinson's disease and essential tremor with transcranial sonography. (18549415)
2009
46
Olfaction and essential tremor. (19330204)
2009
47
Variant in the sequence of the LINGO1 gene confers risk of essential tremor. (19182806)
2009
48
The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor. (18543121)
2008
49
Executive dysfunction and neuropsychiatric symptoms predict lower health status in essential tremor. (18327020)
2008
50
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2. (15108195)
2004

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
45Clotiazepam1110.3GABRE, GABRR3
46chlorine44 2411.3GABRQ, GABRR3, GABRE
47venlafaxine49 44 11 2413.3SLC6A3, GABRQ
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