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 testes, 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, Testes, Thalamus, Subthalamic nucleus, Cerebellum, Retina, Tongue, Liver, Thyroid

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
Physiological and anatomical decomposition of subthalamic neurostimulation effects in essential tremor. (24277721)
2014
2
Key issues in essential tremor genetics research: Where are we now and how can we move forward? (23450143)
2013
3
Thalamic physiology of intentional essential tremor is more like cerebellar tremor than postural essential tremor. (23856324)
2013
4
What is essential tremor? (23591755)
2013
5
Facial emotion recognition is inversely correlated with tremor severity in essential tremor. (24178244)
2013
6
Essential tremor: a unique diagnostic code in ICD-10-CM. (23415561)
2013
7
The "head snap": a subtle clinical feature during the finger-nose-finger maneuver in essential tremor. (23724360)
2013
8
Diffusion tensor imaging of Parkinson's disease, atypical parkinsonism, and essential tremor. (23674400)
2013
9
Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor. (23582660)
2013
10
Pharmacotherapy of Essential Tremor. (24385718)
2013
11
Cerebellar rTMS stimulation may induce prolonged clinical benefits in essential tremor, and subjacent changes in functional connectivity: an open label trial. (22609238)
2013
12
Thalamic gamma oscillations correlate with reaction time in a Go/noGo task in patients with essential tremor. (23466935)
2013
13
Transcranial sonography on Parkinson's disease and essential tremor. (23961280)
2013
14
Understanding the pathophysiology of essential tremor through advanced neuroimaging: a review. (24060292)
2013
15
Rest tremor suppression may separate essential from parkinsonian rest tremor. (23623196)
2013
16
Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. (23084342)
2013
17
Current clinical application of deep-brain stimulation for essential tremor. (24324335)
2013
18
Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentrations in essential tremor: repeat observation in cases and controls in New York. (22757671)
2012
19
Reoperation of deep brain stimulation in patients with essential tremor. (22373891)
2012
20
Essential tremor: phenotypes. (22166415)
2012
21
Harmaline tremor: underlying mechanisms in a potential animal model of essential tremor. (23440018)
2012
22
Transcranial sonography on Parkinson's disease and essential tremor in a Chinese population. (22160731)
2012
23
Deep brain stimulation in ireland for Parkinson's disease and essential tremor. (23155918)
2012
24
Analysis of EMG signals of patients with essential tremor focusing on the change of tremor frequency. (23366370)
2012
25
Mental Status Test Scores are Inversely Correlated with Tremor Severity: A Study of 161 Elderly Essential Tremor Cases. (23440035)
2012
26
Estimating annual rate of decline: prospective, longitudinal data on arm tremor severity in two groups of essential tremor cases. (21436230)
2011
27
Lack of CaV3.1 channels causes severe motor coordination defects and an age-dependent cerebellar atrophy in a genetic model of essential tremor. (21621520)
2011
28
Genetics of Parkinson's disease and essential tremor. (21734494)
2011
29
The psychosocial burden of essential tremor in an outpatient- and a community-based cohort. (21244579)
2011
30
Cerebellar pathology and essential tremor: did Dr. Purkinje leave any fingerprints? (21600831)
2011
31
Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population. (20600614)
2010
32
Another connection between essential tremor and Parkinson's disease? (19845748)
2010
33
Pharmacologic management of essential tremor. (20228310)
2010
34
Gait ataxia in essential tremor is differentially modulated by thalamic stimulation. (20926368)
2010
35
Long-term deep brain stimulation for essential tremor: 12-year clinicopathologic follow-up. (20063387)
2010
36
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor. (19527940)
2010
37
Motor learning in essential tremor. (19243062)
2009
38
The effect of inertial loading on wrist postural tremor in essential tremor. (19383570)
2009
39
Isolated head tremor: part of the clinical spectrum of essential tremor? Data from population-based and clinic-based case samples. (19795473)
2009
40
Essential tremor is associated with dementia: prospective population-based study in New York. (19704081)
2009
41
Glutathione-S-transferase P1 polymorphism and risk for essential tremor. (18215156)
2008
42
Olfactory tests in the diagnosis of essential tremor. (18321760)
2008
43
Tiagabine for essential tremor: an open-label trial. (18759354)
2008
44
Fragile X premutation presenting as essential tremor. (18796598)
2008
45
Cognitive deficits in essential tremor consistent with frontosubcortical dysfunction. (18608666)
2008
46
Hypothetical membrane mechanisms in essential tremor. (18990221)
2008
47
HS1-BP3 gene variant is common in familial essential tremor. (16211613)
2006
48
A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor. (16809426)
2006
49
A gene (ETM) for essential tremor maps to chromosome 2p22-p25. (9399207)
1997
50
Hypotonia accompanying the neurosurgical relief of essential tremor. (4875661)
1968

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