ETM1
MCID: ESS001
MIFTS: 59

Essential Tremor (ETM1) malady

Neuronal, Genetic categories

Summaries for Essential Tremor

Sources:
43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 progressive supranuclear palsy. 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 liver, tongue and spinal cord, and related mouse phenotypes are behavior/neurological and nervous system.

NINDS:44 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.)

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.

Wikipedia:64 Essential tremor (ET, also referred to as benign tremor or familiar tremor) is the most common movement... more...

Description from OMIM:47 190300

Aliases & Classifications for Essential Tremor

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 9diseasecard, 20GeneTests, 22GTR, 35MeSH, 57SNOMED-CT, 25ICD10
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Classifications:

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


Aliases & Descriptions:

essential tremor 8 43 21 44 47 10 45 61
tremor hereditary essential, 1 43 20 22
benign essential tremor 8 43 21
tremor, hereditary essential, 1 43 61
familial tremor 21 61
essential tremor, susceptibility to 9
tremor familial essential, 1 43
hereditary essential tremor 43
familial essential tremor 43
presenile tremor syndrome 43
fet1 43
etm1 43


External Ids:

Disease Ontology8 DOID:4990
MeSH35 D020329
SNOMED-CT57 632009, 192839001
ICD1025 G25.0

Related Diseases for Essential Tremor

Sources:
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 52)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease31.3DRD3, SNCA, LRRK2, SLC6A3, PARK2
2progressive supranuclear palsy30.0FUS, SLC6A3
3tremor11.4
4brain disease10.5
5cervical dystonia10.4
6restless legs syndrome10.3
7parkinson disease 110.3
8parkinson disease 1210.3
9alzheimer's disease10.2
10ataxia10.2
11sensorineural hearing loss - early graying - essential tremor10.2
12normal pressure hydrocephalus10.0
13klinefelter's syndrome10.0
14blepharospasm10.0
15muscular atrophy10.0
16idiopathic familial dystonia10.0
17dysgraphia10.0
18apraxia10.0
19spinal muscular atrophy10.0
20thyroiditis10.0
21neurologic diseases10.0
22spinal-bulbar muscular atrophy10.0
23cerebellar degeneration10.0
24tremors, nystagmus and duodenal ulcers10.0
25limb dystonia10.0
26torsion dystonia10.0
27hypotonia10.0
28dysautonomia10.0SNCA
29aphasia10.0FUS
30lewy body dementia10.0SNCA, LRRK2, SLC6A3
31spinocerebellar ataxia type 310.0SLC6A3, SNCA
32parkinson disease type 310.0PARK2, LRRK2, SNCA
33rem sleep behavior disorder10.0SNCA, SLC6A3
34migraine10.0SLC6A3, PRRT2, DRD3
35drug dependence10.0SLC6A3, DRD3
36tauopathy10.0PARK2, LRRK2, SNCA
37movement disease10.0LRRK2, PRRT2, SNCA
38memory impairment10.0SLC6A3, SNCA, FMR1
39striatonigral degeneration10.0SNCA, SLC6A3
40personality disorder10.0SLC6A3, DRD3
41psychotic disorder10.0DRD3, ARSA, SLC6A3
42multiple system atrophy10.0FMR1, SNCA, LRRK2, SLC6A3, PARK2
43bipolar disorder10.0DRD3, SLC6A3
44frontotemporal dementia10.0SNCA, LRRK2, PARK2, FUS
45amyotrophic lateral sclerosis10.0FUS, SLC6A3, SNCA
46dementia10.0FMR1, ARSA, SNCA, LRRK2, SLC6A3, PARK2
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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

190300

Clinical synopsis from OMIM:

190300

Drugs & Therapeutics for Essential Tremor

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Essential Tremor

Drug clinical trials:

Search ClinicalTrials for Essential Tremor

Search NIH Clinical Center for Essential Tremor

Search CenterWatch for Essential Tremor

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Essential Tremor

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Essential Tremor:

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

Anatomical Context for Essential Tremor

Sources:
33MalaCards
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MalaCards organs/tissues related to Essential Tremor:

33
Liver, Tongue, Spinal cord, Brain, Whole blood, Cortex, Cerebellum, Retina, Thyroid, T cells, B cells, Thalamus, Subthalamic nucleus

Animal Models for Essential Tremor or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Essential Tremor:

37
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

Sources:
51PubMed
See all sources

Articles related to Essential Tremor:

(show top 50)    (show all 552)
idTitleAuthorsYear
1
Functional Anatomy of Essential Tremor: Lessons from Neuroimaging. (23620075)
2013
2
Simultaneous thalamic and posterior subthalamic electrode insertion with single deep brain stimulation electrode for essential tremor. (22985104)
2013
3
The safety and efficacy of thalamic deep brain stimulation in essential tremor: 10 years and beyond. (24096713)
2013
4
FUS gene mutations cause essential tremor: a surprise but also confirms genetic heterogeneity of essential tremor. (23526429)
2013
5
C9orf72 mutation is rare in Alzheimer's disease, Parkinson's disease, and essential tremor in China. (24068985)
2013
6
Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentration in essential tremor cases in Spain. (22981972)
2013
7
The balance and gait disorder of essential tremor: what does this mean for patients? (23858326)
2013
8
A neural network approach for feature extraction and discrimination between Parkinsonian tremor and essential tremor. (23949179)
2013
9
The cognitive side of essential tremor: what are the therapeutic implications? (24228071)
2013
10
MR-guided focused ultrasound thalamotomy for essential tremor: a proof-of-concept study. (23523144)
2013
11
Mismatch Negativity in essential tremor: Role of age at onset in pre-attentive auditory discrimination. (24113330)
2013
12
A pilot study of focused ultrasound thalamotomy for essential tremor. (23944301)
2013
13
Apathy in essential tremor, dystonia, and Parkinson's disease: a comparison with normal controls. (22183872)
2012
14
Cerebellar Ataxia from Multiple Potential Causes: Hypothyroidism, Hashimoto's Thyroiditis, Thalamic Stimulation, and Essential Tremor. (23439792)
2012
15
Transcranial sonography (TCS) in Parkinson's disease (PD) and essential tremor (ET) in relation with putative premotor symptoms of PD. (22277379)
2012
16
Clinical characteristics of essential tremor in Taiwan: an exploratory-comparative study. (21707869)
2012
17
Quality of life following DBS in the caudal zona incerta in patients with essential tremor. (22109693)
2012
18
Prevalence of blepharospasm and apraxia of eyelid opening in patients with parkinsonism, cervical dystonia and essential tremor. (23075668)
2012
19
Methodological issues in clinical drug development for essential tremor. (23440401)
2012
20
Amplitude fluctuations in essential tremor. (22591578)
2012
21
Exome sequencing identifies fus mutations as a cause of essential tremor. (22863194)
2012
22
Screening of 10 SNPs of LINGO1 gene in patients with essential tremor in the Latvian population. (21741293)
2012
23
Factors associated with receptivity to deep brain stimulation surgery among essential tremor cases. (21561796)
2011
24
A diffusion tensor imaging study in essential tremor. (21091815)
2011
25
The effect of inertial loading on wrist kinetic tremor and rhythmic muscle activity in individuals with essential tremor. (21177141)
2011
26
Bilateral caudal zona incerta nucleus stimulation for essential tremor: outcome and quality of life. (21285454)
2011
27
Thalamic deep brain stimulation in the treatment of essential tremor. (21384292)
2011
28
Essential tremor: choosing the right management plan for your patient. (22135272)
2011
29
Essential tremor and Parkinson's disease: lack of a link. (21284040)
2011
30
Cerebellar Purkinje cell loss is not pathognomonic of essential tremor. (20817536)
2011
31
Deep brain stimulation of the ventral intermediate nucleus in patients with essential tremor: stimulation below intercommissural line is more efficient but equally effective as stimulation above. (21515262)
2011
32
Deep brain stimulation for Parkinson's disease, essential tremor, and dystonia. (22036119)
2011
33
Guidelines for management of essential tremor. (21847325)
2011
34
Tandem gait performance in essential tremor: clinical correlates and association with midline tremors. (20629168)
2010
35
Impairment of rapid repetitive finger movements and visual reaction time in patients with essential tremor. (19765055)
2010
36
Transcranial sonography in essential tremor. (20692503)
2010
37
The effect of contraction intensity on force fluctuations and motor unit entrainment in individuals with essential tremor. (20045376)
2010
38
LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease. (20369371)
2010
39
A pilot efficacy and tolerability trial of memantine for essential tremor. (20838216)
2010
40
The Bereitschaftspotential in essential tremor. (20097128)
2010
41
Prevalence of essential tremor: a door-to-door survey in Sile, Istanbul, Turkey. (18474448)
2009
42
Diagnosis and management of essential tremor and dystonic tremor. (21179530)
2009
43
Cerebellar atrophy in essential tremor using an automated segmentation method. (19342539)
2009
44
Confined stimulation using dual thalamic deep brain stimulation leads rescues refractory essential tremor: report of three cases. (19641342)
2009
45
Efficacy and tolerability of pregabalin in essential tremor: a randomized, double-blind, placebo-controlled, crossover trial. (19631949)
2009
46
The prevalence of essential tremor in rural northern Tanzania. (18339731)
2008
47
Association of the polymorphism in alpha-2 macroglobulin gene with essential tremor and Parkinson's disease]. (16456795)
2006
48
The status of dopamine nerve terminals in Parkinson's disease and essential tremor: a PET study with the tracer [11-C]FE-CIT. (11487195)
2001
49
Clinical features of essential tremor seen in neurology practice: a study of 357 patients. (18591074)
1997
50
Familial essential tremor and idiopathic torsion dystonia are different genetic entities. (8232931)
1993

Genetic Variations for Essential Tremor

Expression for genes affiliated with Essential Tremor

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 4Cell Signaling Technology, 30KEGG, 54Reactome, 12EMD Millipore
See all sources

Compounds for genes affiliated with Essential Tremor

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Essential Tremor according to GeneCards/GeneDecks:

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
11-benzyl-1,2,3,4-tetrahydroisoquinoline4510.8SLC6A3, SNCA
21 methyl 4 phenylpyridinium4510.7PARK2, SLC6A3, SNCA
3duloxetine45 50 29 1113.7SLC6A3, DRD3
4raclopride45 2911.7DRD3, SLC6A3
5piperazine45 1111.7DRD3, SLC6A3
6dopac4510.7DRD3, PARK2
7apomorphine45 29 1112.7DRD3, SNCA, SLC6A3
86-hydroxydopamine4510.7PARK2, SLC6A3, SNCA, DRD3
9mptp4510.7DRD3, SNCA, SLC6A3, PARK2
10methamphetamine45 50 1112.7SLC6A3, SNCA, DRD3
11rotenone4510.7SNCA, SLC6A3, PARK2
12Clorazepate1110.6GABRQ, GABRR3, GABRE
13catecholamine4510.6PARK2, SNCA, DRD3
14bromazepam45 1111.6GABRQ, GABRR3, GABRE
15nitrazepam45 1111.6GABRQ, GABRR3, GABRE
16Temazepam1110.6GABRQ, GABRR3, GABRE
17lorazepam45 50 1112.6GABRQ, GABRR3, GABRE
18flurazepam45 1111.6GABRQ, GABRR3, GABRE
19levodopa45 1111.6PARK2, SLC6A3, LRRK2, SNCA, DRD3
20oxazepam50 1111.6GABRQ, GABRR3, GABRE
21clobazam45 50 1112.6GABRQ, GABRR3, GABRE
22chlordiazepoxide45 1111.6GABRQ, GABRR3, GABRE
23Fludiazepam1110.6GABRR3, GABRE
24tbps45 2911.6GABRQ, GABRR3, GABRE
25clonazepam45 1111.6GABRQ, GABRR3, GABRE
26Halazepam1110.6GABRR3, GABRE
27muscimol45 60 2912.6GABRQ, GABRR3, GABRE
28picrotoxin45 29 1112.6GABRQ, GABRR3, GABRE
29(+)-bicuculline6010.6GABRQ, GABRE
30Cinolazepam1110.6GABRR3, GABRE
31sulpiride45 29 1112.6DRD3, SLC6A3
32triazolam45 1111.6GABRQ, GABRR3, GABRE
33alprazolam45 1111.6GABRE, GABRR3, GABRQ
34(-)-bicuculline methochloride6010.6GABRQ, GABRE
35midazolam45 50 1112.6GABRQ, GABRR3, GABRE
36(-)-bicuculline methiodide6010.6GABRQ, GABRE
37sr 95531 hydrobromide6010.5GABRQ, GABRE
38gaba4510.5FMR1, GABARAP, GJD2, SLC6A3
39diazepam45 50 29 1113.5GABRQ, GABRR3, GABRE, GABARAP
40dopamine45 29 11 2413.5PARK2, SLC6A3, LRRK2, GJD2, SNCA, DRD3
41Prazepam1110.5GABRR3, GABRE
42estazolam45 1111.5GABRE, GABRR3
43Adinazolam1110.5GABRE, GABRR3
44quazepam45 1111.4GABRE, GABRR3
45Clotiazepam1110.3GABRE, GABRR3
46chlorine45 2411.3GABRQ, GABRR3, GABRE
47venlafaxine50 45 11 2413.3SLC6A3, GABRQ
48cocaine45 1111.3DRD3, SNCA, SLC6A3
49hydrazine4510.2SLC6A3, HNMT
50pramipexole45 50 29 1113.1SLC6A3, DRD3

GO Terms for genes affiliated with Essential Tremor

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet