ETM1
MCID: ESS001
MIFTS: 69

Essential Tremor (ETM1) malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Essential Tremor

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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. the causes of essential tremor are unknown. several genes as well as environmental factors likely play a role in a person's risk of developing this complex condition. in mild cases, treatment may not be necessary. in cases where symptoms interfere with daily living, medications may help to relieve symptoms.    last updated: 9/12/2014

MalaCards based summary: Essential Tremor, also known as benign essential tremor, is related to parkinson's disease and obsessive-compulsive disorder, and has symptoms including autosomal dominant inheritance, dysarthria and postural tremor. 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.

OMIM:46 Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural... (190300) more...

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:64 Essential tremor (ET, also referred to as benign tremor or familial tremor or shaky hand syndrome) is... more...

Aliases & Classifications for Essential Tremor

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Essential Tremor, Aliases & Descriptions:

Name: Essential Tremor 9 42 22 43 46 11 44 61
Benign Essential Tremor 9 42 22 61
Tremor Hereditary Essential, 1 42 21 23
Hereditary Essential Tremor 42 22 61
Tremor, Hereditary Essential, 1 42 61
Presenile Tremor Syndrome 42 61
 
Familial Tremor 22 61
Essential Tremor, Susceptibility to 10
Tremor Familial Essential, 1 42
Familial Essential Tremor 42
Fet1 42
Etm1 42


Classifications:

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


External Ids:

Disease Ontology9 DOID:4990
MeSH34 D020329
SNOMED-CT56 192839001, 632009
ICD1026 G25.0

Related Diseases for Essential Tremor

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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 60)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson's disease31.1LRRK2, PARK2, SNCA, DRD3, SLC6A3
2obsessive-compulsive disorder30.5DRD3, SLC6A3
3migraine30.4DRD3, SLC6A3
4progressive supranuclear palsy30.4FUS, SLC6A3
5schizophrenia30.3SLC6A3, DRD3, FMR1, SNCA
6spinocerebellar ataxia30.3FMR1, SNCA
7alzheimer's disease30.2SLC6A3, DRD3, SNCA, PARK2, LRRK2
8dementia30.0LRRK2, PARK2, SNCA, FMR1, SLC6A3
9multiple system atrophy29.9LRRK2, PARK2, SNCA, FMR1, SLC6A3
10tremor11.4
11dystonia10.6
12cervical dystonia10.5
13cervicitis10.5
14parkinson disease 110.4SNCA
15restless legs syndrome10.4
16neuronitis10.4
17blindness10.4
18personality disorder10.3SLC6A3, DRD3
19pathological gambling10.3DRD3, SLC6A3
20substance dependence10.3DRD3, SLC6A3
21drug dependence10.3SLC6A3, DRD3
22ataxia10.3
23gilles de la tourette syndrome10.3DRD3, SLC6A3
24cocaine dependence10.3DRD3, SLC6A3
25drug addiction10.3SLC6A3, DRD3
26rem sleep behavior disorder10.3SNCA, SLC6A3
27striatonigral degeneration10.3SLC6A3, SNCA
28alcohol abuse10.3SLC6A3, DRD3
29substance abuse10.2SLC6A3, DRD3
30movement disease10.2LRRK2, SNCA
31cerebritis10.2
32sarcoma10.2
33deep brain stimulation for parkinson's disease10.2
34sensorineural hearing loss - early graying - essential tremor10.2
35machado-joseph disease10.2SNCA, SLC6A3
36mood disorder10.2DRD3, SLC6A3
37attention deficit hyperactivity disorder10.2FMR1, SLC6A3
38psychotic disorder10.1SLC6A3, DRD3
39memory impairment10.1SLC6A3, FMR1, SNCA
40lewy body dementia10.1SLC6A3, SNCA, LRRK2
41cerebellar ataxia10.1
42hydrocephalus10.1
43klinefelter's syndrome10.1
44normal pressure hydrocephalus10.1
45blepharospasm10.1
46muscular atrophy10.1
47dysgraphia10.1
48apraxia10.1
49hypothyroidism10.1
50thyroiditis10.1

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



Diseases related to essential tremor

Symptoms for Essential Tremor

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Symptoms by clinical synopsis from OMIM:

190300

Clinical features from OMIM:

190300

HPO human phenotypes related to Essential Tremor:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dysarthria HP:0001260
3 postural tremor HP:0002174
4 action tremor HP:0002345
5 hand tremor HP:0002378
6 progressive disorder HP:0003676

Drugs & Therapeutics for Essential Tremor

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Drug clinical trials:

Search ClinicalTrials for Essential Tremor

Search NIH Clinical Center for Essential Tremor

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Essential Tremor

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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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MalaCards organs/tissues related to Essential Tremor:

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

Animal Models for Essential Tremor or affiliated genes

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MGI Mouse Phenotypes related to Essential Tremor:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4LRRK2, PARK2, SNCA, FMR1, SLC6A3
2MP:00107687.9SLC6A3, DRD3, SNCA, PARK2, FUS, LRRK2
3MP:00030127.9LRRK2, FUS, PARK2, SNCA, GJD2
4MP:00053787.9FUS, PARK2, SNCA, FMR1, DRD3, SLC6A3
5MP:00053847.8LRRK2, FUS, PARK2, SNCA, FMR1, SLC6A3
6MP:00053797.7LRRK2, FUS, SNCA, FMR1, GJD2, SLC6A3
7MP:00053767.3LRRK2, PARK2, SNCA, DRD3, GJD2, SLC6A3
8MP:00053866.9SLC6A3, LRRK2, FUS, PARK2, SNCA, FMR1
9MP:00036316.9LRRK2, FUS, PARK2, SNCA, FMR1, DRD3

Publications for Essential Tremor

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Articles related to Essential Tremor:

(show top 50)    (show all 557)
idTitleAuthorsYear
1
Non-steroidal anti-inflammatory drug use and essential tremor. (25376662)
2014
2
Re-thinking the biology of essential tremor: from models to morphology. (24262197)
2014
3
Functional Anatomy of Essential Tremor: Lessons from Neuroimaging. (23620075)
2013
4
Key issues in essential tremor genetics research: Where are we now and how can we move forward? (23450143)
2013
5
The microtubule associated protein tau H1 haplotype and risk of essential tremor. (24372973)
2013
6
Abnormal regional homogeneity in patients with essential tremor revealed by resting-state functional MRI. (23869236)
2013
7
Ocular flutter in essential tremor: clinical course and response to primidone. (24061767)
2013
8
Temporal discrimination in patients with dystonia and tremor and patients with essential tremor. (23243072)
2013
9
Is there a one-way street from essential tremor to Parkinson's disease? Possible biological ramifications. (24033795)
2013
10
Simultaneous thalamic and posterior subthalamic electrode insertion with single deep brain stimulation electrode for essential tremor. (22985104)
2013
11
The safety and efficacy of thalamic deep brain stimulation in essential tremor: 10 years and beyond. (24096713)
2013
12
Neuroanatomical heterogeneity of essential tremor according to propranolol response. (24358327)
2013
13
Thalamic physiology of intentional essential tremor is more like cerebellar tremor than postural essential tremor. (23856324)
2013
14
Autonomic function, as self-reported on the SCOPA-autonomic questionnaire, is normal in essential tremor but not in Parkinson's disease. (22771283)
2012
15
Thalamic and subthalamic deep brain stimulation for essential tremor: where is the optimal target? (22426044)
2012
16
White matter hyperintensity burden on magnetic resonance imaging in essential tremor. (23439769)
2012
17
Blink reflex recovery cycle in patients with essential tremor associated with resting tremor. (22993289)
2012
18
Psychiatric disorders in patients with essential tremor. (22658234)
2012
19
Long-term benefits in quality of life after unilateral thalamic deep brain stimulation for essential tremor. (22519432)
2012
20
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
21
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
22
Analysis of Lingo1 variant in sporadic and familial essential tremor among Asians. (21158743)
2011
23
Factors associated with receptivity to deep brain stimulation surgery among essential tremor cases. (21561796)
2011
24
Estimating annual rate of decline: prospective, longitudinal data on arm tremor severity in two groups of essential tremor cases. (21436230)
2011
25
Essential tremor--a neurodegenerative disorder associated with cognitive defects? (21487422)
2011
26
Treatment of Essential Tremor: Are there Issues We are Overlooking? (22275907)
2011
27
Tremor during movement correlates well with disability in people with essential tremor. (21656852)
2011
28
A family with Parkinsonism, essential tremor, restless legs syndrome, and depression. (21555728)
2011
29
Marked reduction of tremor in essential tremor after putaminal infarct. (20581413)
2010
30
Long-term results of thalamic deep brain stimulation for essential tremor. (19911883)
2010
31
Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population. (20600614)
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
Mirror movements in patients with essential tremor. (19795466)
2009
42
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (18718804)
2009
43
Dopamine receptor D3 (DRD3) genotype and allelic variants and risk for essential tremor. (19645064)
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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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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Compounds for genes affiliated with Essential Tremor

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Compounds related to Essential Tremor according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1duloxetine44 50 29 1213.2DRD3, SLC6A3
2raclopride44 2911.2SLC6A3, DRD3
3piperazine44 1211.2SLC6A3, DRD3
4sulpiride44 29 1212.2DRD3, SLC6A3
5pramipexole44 29 50 1213.2SLC6A3, DRD3
6quinpirole44 2911.2SLC6A3, DRD3
7heroin44 50 1212.1SLC6A3, DRD3
8bupropion50 44 25 1213.1SLC6A3, DRD3
9paroxetine44 50 29 1213.1DRD3, SLC6A3
101-benzyl-1,2,3,4-tetrahydroisoquinoline4410.1SLC6A3, SNCA
11quetiapine44 50 29 25 1214.1SLC6A3, DRD3
12dopac4410.0DRD3, PARK2
13bromocriptine44 29 1212.0SLC6A3, DRD3
14risperidone44 50 29 60 25 1215.0SLC6A3, DRD3
15selegiline44 1211.0SLC6A3, SNCA
16imipramine44 29 50 25 1213.8SLC6A3, DRD3
17amphetamine44 50 1211.8SNCA, SLC6A3
18apomorphine29 44 1211.8SNCA, DRD3, SLC6A3
19methamphetamine44 50 1211.8SNCA, DRD3, SLC6A3
20cocaine44 1210.7SNCA, DRD3, SLC6A3
21olanzapine44 50 29 25 1213.7DRD3, SLC6A3
22norepinephrine44 25 1211.6SNCA, DRD3, SLC6A3
23tunicamycin44 6010.6SLC6A3, PARK2
24catecholamine449.6DRD3, SNCA, PARK2
25nmda44 2910.6SLC6A3, DRD3, PARK2
261 methyl 4 phenylpyridinium449.6SLC6A3, SNCA, PARK2
27rotenone449.5SLC6A3, SNCA, PARK2
28opiate449.5SLC6A3, DRD3
29gtp44 2910.3DRD3, PARK2, LRRK2
30glutamate449.3SNCA, FMR1, DRD3, SLC6A3
316-hydroxydopamine449.3PARK2, SNCA, DRD3, SLC6A3
32mptp449.3PARK2, SNCA, DRD3, SLC6A3
33gaba449.3FMR1, GJD2, SLC6A3
34cysteine449.1PARK2, SNCA, DRD3, SLC6A3
35levodopa44 129.9SLC6A3, DRD3, SNCA, PARK2, LRRK2
36dopamine44 29 25 1211.0LRRK2, PARK2, SNCA, DRD3, GJD2, SLC6A3

GO Terms for genes affiliated with Essential Tremor

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

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

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

Products for genes affiliated with Essential Tremor

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Sources for Essential Tremor

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4CDC
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26ICD10
27ICD10 via Orphanet
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29IUPHAR
30KEGG
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40NDF-RT
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