ETM1
MCID: ESS001
MIFTS: 65

Essential Tremor (ETM1) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Essential Tremor

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22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 alzheimer's disease. An important gene associated with Essential Tremor is DRD3 (dopamine receptor D3), and among its related pathways are Parkin-Ubiquitin Proteasomal System pathway and Alpha-synuclein signaling. The drugs propranolol and propranolol hydrochloride and the compounds duloxetine and raclopride have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and thalamus, and related mouse phenotypes are integument and mortality/aging.

Genetics Home Reference:22 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:45 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:66 Essential tremor (ET, also referred to as benign tremor or familial tremor or shaky hand syndrome) is... more...

Description from OMIM:48 190300

Aliases & Classifications for Essential Tremor

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS, 10diseasecard, 21GeneTests, 23GTR, 59SNOMED-CT, 36MeSH, 26ICD10
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Classifications:

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


Aliases & Descriptions:

essential tremor 9 44 22 45 48 11 46 63
tremor hereditary essential, 1 44 21 23
benign essential tremor 9 44 22
tremor, hereditary essential, 1 44 63
hereditary essential tremor 44 22
familial tremor 22 63
essential tremor, susceptibility to 10
tremor familial essential, 1 44
familial essential tremor 44
presenile tremor syndrome 44
fet1 44
etm1 44


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Disease Ontology9 DOID:4990
MeSH36 D020329
SNOMED-CT59 632009, 192839001
ICD1026 G25.0

Related Diseases for Essential Tremor

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18GeneCards, 19GeneDecks
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Diseases in the Essential Tremor family:

Tremor Hereditary Essential, 2 Tremor
Tremor, Hereditary Essential, 3 Tremor, Hereditary Essential, 4

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease31.4SNCA, LRRK2, SLC6A3, PARK2, DRD3
2alzheimer's disease30.4SNCA, DRD3, PARK2, LRRK2, SLC6A3
3migraine30.4DRD3, SLC6A3
4dementia30.3SNCA, FMR1, LRRK2, PARK2, SLC6A3
5schizophrenia30.3DRD3, SLC6A3, FMR1, SNCA
6multiple system atrophy30.2FMR1, SNCA, LRRK2, SLC6A3, PARK2
7progressive supranuclear palsy30.2SLC6A3, FUS
8tremor11.4
9dystonia10.6
10cervical dystonia10.4
11cervicitis10.4
12blindness10.4
13neuronitis10.3
14restless legs syndrome10.3
15cerebritis10.2
16sarcoma10.2
17ataxia10.2
18deep brain stimulation for parkinson's disease10.2
19sensorineural hearing loss - early graying - essential tremor10.2
20parkinson disease 110.1SNCA
21personality disorder10.1SLC6A3, DRD3
22substance dependence10.1SLC6A3, DRD3
23pathological gambling10.1SLC6A3, DRD3
24drug dependence10.1DRD3, SLC6A3
25gilles de la tourette syndrome10.1SLC6A3, DRD3
26cocaine dependence10.1DRD3, SLC6A3
27drug addiction10.1DRD3, SLC6A3
28rem sleep behavior disorder10.1SLC6A3, SNCA
29striatonigral degeneration10.1SNCA, SLC6A3
30alcohol abuse10.1SLC6A3, DRD3
31klinefelter's syndrome10.1
32normal pressure hydrocephalus10.1
33blepharospasm10.1
34muscular atrophy10.1
35dysgraphia10.1
36apraxia10.1
37cerebellar ataxia10.1
38hydrocephalus10.1
39hypothyroidism10.1
40thyroiditis10.1
41cerebellar degeneration10.1
42neuhauser daly magnelli syndrome10.1
43torsion dystonia10.1
44hypotonia10.1
45obsessive-compulsive disorder10.1SLC6A3, DRD3
46substance abuse10.1DRD3, SLC6A3
47movement disease10.0SNCA, LRRK2
48spinocerebellar ataxia type 310.0SNCA, SLC6A3
49attention deficit hyperactivity disorder10.0FMR1, SLC6A3
50psychotic disorder10.0DRD3, SLC6A3

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



Diseases related to essential tremor

Symptoms for Essential Tremor

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48OMIM
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Symptoms by clinical synopsis from OMIM:

190300

Clinical features from OMIM:

190300

Drugs & Therapeutics for Essential Tremor

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Essential Tremor

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21GeneTests, 23GTR
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Genetic tests related to Essential Tremor:

id Genetic test Affiliating Genes
1 Hereditary Essential Tremor 121 23 DRD3

Anatomical Context for Essential Tremor

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34MalaCards
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MalaCards organs/tissues related to Essential Tremor:

34
Brain, Cortex, Thalamus, Testes, Subthalamic nucleus, Cerebellum, Retina, Thyroid, Tongue, Liver

Animal Models for Essential Tremor or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Essential Tremor:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4LRRK2, PARK2, SNCA, SLC6A3, FMR1
2MP:00107687.9SLC6A3, LRRK2, FUS, PARK2, SNCA, DRD3
3MP:00030127.9LRRK2, FUS, PARK2, SNCA, GJD2
4MP:00053787.9SNCA, FUS, PARK2, FMR1, DRD3, SLC6A3
5MP:00053847.8LRRK2, FUS, PARK2, FMR1, SLC6A3, SNCA
6MP:00053797.7GJD2, LRRK2, FUS, SNCA, FMR1, SLC6A3
7MP:00053767.3LRRK2, SLC6A3, SNCA, PARK2, DRD3, GJD2
8MP:00053866.9FUS, LRRK2, SLC6A3, PARK2, SNCA, FMR1
9MP:00036316.9SNCA, FUS, LRRK2, GJD2, SLC6A3, DRD3

Publications for Essential Tremor

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53PubMed
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Articles related to Essential Tremor:

(show top 50)    (show all 533)
idTitleAuthorsYear
1
Re-thinking the biology of essential tremor: from models to morphology. (24262197)
2014
2
Functional Anatomy of Essential Tremor: Lessons from Neuroimaging. (23620075)
2013
3
Key issues in essential tremor genetics research: Where are we now and how can we move forward? (23450143)
2013
4
The microtubule associated protein tau H1 haplotype and risk of essential tremor. (24372973)
2013
5
Abnormal regional homogeneity in patients with essential tremor revealed by resting-state functional MRI. (23869236)
2013
6
Ocular flutter in essential tremor: clinical course and response to primidone. (24061767)
2013
7
Temporal discrimination in patients with dystonia and tremor and patients with essential tremor. (23243072)
2013
8
Is there a one-way street from essential tremor to Parkinson's disease? Possible biological ramifications. (24033795)
2013
9
Simultaneous thalamic and posterior subthalamic electrode insertion with single deep brain stimulation electrode for essential tremor. (22985104)
2013
10
The safety and efficacy of thalamic deep brain stimulation in essential tremor: 10 years and beyond. (24096713)
2013
11
Neuroanatomical heterogeneity of essential tremor according to propranolol response. (24358327)
2013
12
Thalamic physiology of intentional essential tremor is more like cerebellar tremor than postural essential tremor. (23856324)
2013
13
Autonomic function, as self-reported on the SCOPA-autonomic questionnaire, is normal in essential tremor but not in Parkinson's disease. (22771283)
2012
14
Thalamic and subthalamic deep brain stimulation for essential tremor: where is the optimal target? (22426044)
2012
15
White matter hyperintensity burden on magnetic resonance imaging in essential tremor. (23439769)
2012
16
Blink reflex recovery cycle in patients with essential tremor associated with resting tremor. (22993289)
2012
17
Psychiatric disorders in patients with essential tremor. (22658234)
2012
18
Long-term benefits in quality of life after unilateral thalamic deep brain stimulation for essential tremor. (22519432)
2012
19
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
20
Projected numbers of people with movement disorders in the years 2030 and 2050: implications for sub-Saharan Africa, using essential tremor and Parkinson's disease in Tanzania as an example. (22791221)
2012
21
Analysis of Lingo1 variant in sporadic and familial essential tremor among Asians. (21158743)
2011
22
Factors associated with receptivity to deep brain stimulation surgery among essential tremor cases. (21561796)
2011
23
Estimating annual rate of decline: prospective, longitudinal data on arm tremor severity in two groups of essential tremor cases. (21436230)
2011
24
Essential tremor--a neurodegenerative disorder associated with cognitive defects? (21487422)
2011
25
Treatment of Essential Tremor: Are there Issues We are Overlooking? (22275907)
2011
26
Tremor during movement correlates well with disability in people with essential tremor. (21656852)
2011
27
A diffusion tensor imaging study in essential tremor. (21091815)
2011
28
Marked reduction of tremor in essential tremor after putaminal infarct. (20581413)
2010
29
Long-term results of thalamic deep brain stimulation for essential tremor. (19911883)
2010
30
Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population. (20600614)
2010
31
"Hairy baskets" associated with degenerative Purkinje cell changes in essential tremor. (20142764)
2010
32
Genetics of Parkinson disease and essential tremor. (20489616)
2010
33
Successful implantation of a deep brain stimulator for essential tremor in a patient with a preexisting cochlear implant: surgical technique: technical case report. (20489530)
2010
34
Tandem gait performance in essential tremor: clinical correlates and association with midline tremors. (20629168)
2010
35
Relationship between blood harmane and harmine concentrations in familial essential tremor, sporadic essential tremor and controls. (20708029)
2010
36
Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor. (20670416)
2010
37
Essential tremor with ubiquitinated Purkinje cell intranuclear inclusions. (20107820)
2010
38
Gait and balance in essential tremor: variable effects of bilateral thalamic stimulation. (19006189)
2009
39
Prevalence of essential tremor: a door-to-door survey in Sile, Istanbul, Turkey. (18474448)
2009
40
An update on essential tremor. (19515278)
2009
41
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (18718804)
2009
42
Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. (19645064)
2009
43
Diagnosis and management of essential tremor and dystonic tremor. (21179530)
2009
44
Fertility in essential tremor. Data from population-based and clinical sources. (18784418)
2008
45
Glutathione-S-transferase P1 polymorphism and risk for essential tremor. (18215156)
2008
46
The nonsynonymous Thr105Ile polymorphism of the histamine N-methyltransferase is associated to the risk of developing essential tremor. (18543121)
2008
47
Factors involved in long-term efficacy of deep brain stimulation of the thalamus for essential tremor. (18826350)
2008
48
Thalamic deep brain stimulation improves eyeblink conditioning deficits in essential tremor. (18394604)
2008
49
A family with Parkinson disease, essential tremor, bell palsy, and parkin mutations. (17353387)
2007
50
Manic-depressive illness associated with Klinefelter's syndrome and essential tremors. (655296)
1978

Variations for Essential Tremor

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Expression for genes affiliated with Essential Tremor

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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 31KEGG, 5Cell Signaling Technology
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Compounds for genes affiliated with Essential Tremor

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46Novoseek, 52PharmGKB, 30IUPHAR, 12DrugBank, 25HMDB, 62Tocris Bioscience
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Compounds related to Essential Tremor according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1duloxetine46 52 30 1213.2SLC6A3, DRD3
2raclopride46 3011.2SLC6A3, DRD3
3piperazine46 1211.2SLC6A3, DRD3
4sulpiride46 30 1212.2DRD3, SLC6A3
5pramipexole46 30 52 1213.2DRD3, SLC6A3
6quinpirole46 3011.2SLC6A3, DRD3
7heroin46 52 1212.1DRD3, SLC6A3
8bupropion52 46 25 1213.1DRD3, SLC6A3
9paroxetine46 52 30 1213.1SLC6A3, DRD3
101-benzyl-1,2,3,4-tetrahydroisoquinoline4610.1SNCA, SLC6A3
11quetiapine46 52 30 25 1214.1SLC6A3, DRD3
12bromocriptine46 30 1212.0SLC6A3, DRD3
13dopac4610.0PARK2, DRD3
14risperidone46 52 30 62 25 1215.0SLC6A3, DRD3
15selegiline46 1211.0SNCA, SLC6A3
16imipramine46 30 52 25 1213.8DRD3, SLC6A3
17amphetamine46 52 1211.8SLC6A3, SNCA
18apomorphine30 46 1211.8DRD3, SLC6A3, SNCA
19methamphetamine46 52 1211.8SNCA, DRD3, SLC6A3
20cocaine46 1210.7SNCA, DRD3, SLC6A3
21olanzapine46 52 30 25 1213.7SLC6A3, DRD3
22norepinephrine46 25 1211.6SNCA, DRD3, SLC6A3
23tunicamycin46 6210.6PARK2, SLC6A3
24catecholamine469.6SNCA, DRD3, PARK2
25nmda46 3010.6SLC6A3, PARK2, DRD3
261 methyl 4 phenylpyridinium469.6PARK2, SNCA, SLC6A3
27rotenone469.5SLC6A3, PARK2, SNCA
28opiate469.5DRD3, SLC6A3
29gtp46 3010.3LRRK2, PARK2, DRD3
30glutamate469.3DRD3, SNCA, SLC6A3, FMR1
316-hydroxydopamine469.3SLC6A3, DRD3, SNCA, PARK2
32mptp469.3DRD3, PARK2, SLC6A3, SNCA
33gaba469.3SLC6A3, FMR1, GJD2
34cysteine469.1PARK2, SNCA, DRD3, SLC6A3
35levodopa46 129.9SLC6A3, SNCA, PARK2, LRRK2, DRD3
36dopamine46 30 25 1211.0LRRK2, GJD2, DRD3, SLC6A3, PARK2, SNCA

GO Terms for genes affiliated with Essential Tremor

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17Gene Ontology
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Cellular components related to Essential Tremor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inclusion bodyGO:0162349.6SNCA, LRRK2
2synaptic vesicleGO:0080219.3LRRK2, SNCA
3axonGO:0304249.2SLC6A3, SNCA, LRRK2
4cytoplasmGO:0057377.8SLC6A3, FMR1, SNCA, PARK2, FUS, LRRK2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dopamine receptor signaling pathwayGO:06016110.0LRRK2, DRD3
2prepulse inhibitionGO:0601349.9DRD3, SLC6A3
3regulation of dopamine secretionGO:0140599.9SNCA, DRD3
4behavioral response to cocaineGO:0481489.9DRD3, SNCA
5dopamine biosynthetic processGO:0424169.9SLC6A3, SNCA
6regulation of locomotionGO:0400129.9LRRK2, SNCA
7response to cocaineGO:0422209.8DRD3, SLC6A3
8locomotory behaviorGO:0076269.8DRD3, SLC6A3
9neuron deathGO:0709979.7PARK2, LRRK2
10negative regulation of protein phosphorylationGO:0019339.4PARK2, SNCA
11cell deathGO:0082199.2SLC6A3, FUS, PARK2
12response to drugGO:0424939.1SNCA, DRD3, SLC6A3

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

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.8DRD3, SLC6A3
2drug bindingGO:0081449.8DRD3, SLC6A3
3identical protein bindingGO:0428028.5LRRK2, FUS, PARK2, SNCA
4protein bindingGO:0055157.2SLC6A3, LRRK2, FUS, PARK2, SNCA, FMR1

Products for genes affiliated with Essential Tremor

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Sources for Essential Tremor

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet