ETM1
MCID: ESS001
MIFTS: 68

Essential Tremor (ETM1) malady

Genetic diseases, Rare diseases, Neuronal diseases categories
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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 migraine, and has symptoms including 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: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:65 Essential tremor (ET, also referred to as benign tremor or familial tremor or shaky hand syndrome) is... more...

Description from OMIM:46 190300

Aliases & Classifications for Essential Tremor

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Essential Tremor, Aliases & Descriptions:

Name: Essential Tremor 8 42 21 43 46 10 44 62
Benign Essential Tremor 8 42 21 62
Tremor Hereditary Essential, 1 42 20 22
Hereditary Essential Tremor 42 21 62
Tremor, Hereditary Essential, 1 42 62
Presenile Tremor Syndrome 42 62
 
Familial Tremor 21 62
Essential Tremor, Susceptibility to 9
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 Ontology8 DOID:4990
MeSH34 D020329
SNOMED-CT57 192839001, 632009
ICD1025 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 disease31.1SNCA, LRRK2, SLC6A3, PARK2, DRD3
2migraine30.6DRD3, SLC6A3
3obsessive-compulsive disorder30.5SLC6A3, DRD3
4progressive supranuclear palsy30.4SLC6A3, FUS
5schizophrenia30.3DRD3, SLC6A3, FMR1, SNCA
6spinocerebellar ataxia30.3SNCA, FMR1
7alzheimer's disease30.2SNCA, DRD3, PARK2, LRRK2, SLC6A3
8dementia30.0SNCA, FMR1, LRRK2, PARK2, SLC6A3
9multiple system atrophy29.9FMR1, SNCA, LRRK2, SLC6A3, PARK2
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
19substance dependence10.3SLC6A3, DRD3
20pathological gambling10.3SLC6A3, DRD3
21drug dependence10.3DRD3, SLC6A3
22ataxia10.3
23gilles de la tourette syndrome10.3SLC6A3, DRD3
24cocaine dependence10.3DRD3, SLC6A3
25drug addiction10.3DRD3, SLC6A3
26rem sleep behavior disorder10.3SLC6A3, SNCA
27striatonigral degeneration10.3SNCA, SLC6A3
28alcohol abuse10.3SLC6A3, DRD3
29substance abuse10.2DRD3, SLC6A3
30cerebritis10.2
31sarcoma10.2
32deep brain stimulation for parkinson's disease10.2
33sensorineural hearing loss - early graying - essential tremor10.2
34movement disease10.2SNCA, LRRK2
35machado-joseph disease10.2SNCA, SLC6A3
36attention deficit hyperactivity disorder10.2FMR1, SLC6A3
37psychotic disorder10.1DRD3, SLC6A3
38memory impairment10.1SLC6A3, FMR1, SNCA
39lewy body dementia10.1LRRK2, SLC6A3, SNCA
40cerebellar ataxia10.1
41hydrocephalus10.1
42klinefelter's syndrome10.1
43normal pressure hydrocephalus10.1
44blepharospasm10.1
45muscular atrophy10.1
46dysgraphia10.1
47apraxia10.1
48hypothyroidism10.1
49thyroiditis10.1
50neurologic diseases10.1

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 UMLS62/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 120 22 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, 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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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 28 1113.2DRD3, SLC6A3
2raclopride44 2811.2SLC6A3, DRD3
3piperazine44 1111.2SLC6A3, DRD3
4sulpiride44 28 1112.2DRD3, SLC6A3
5pramipexole44 28 50 1113.2SLC6A3, DRD3
6quinpirole44 2811.2SLC6A3, DRD3
7heroin44 50 1112.1SLC6A3, DRD3
8bupropion50 44 24 1113.1SLC6A3, DRD3
9paroxetine44 50 28 1113.1DRD3, SLC6A3
101-benzyl-1,2,3,4-tetrahydroisoquinoline4410.1SLC6A3, SNCA
11quetiapine44 50 28 24 1114.1SLC6A3, DRD3
12dopac4410.0DRD3, PARK2
13bromocriptine44 28 1112.0SLC6A3, DRD3
14risperidone44 50 28 61 24 1115.0SLC6A3, DRD3
15selegiline44 1111.0SLC6A3, SNCA
16imipramine44 28 50 24 1113.8SLC6A3, DRD3
17amphetamine44 50 1111.8SNCA, SLC6A3
18apomorphine28 44 1111.8SNCA, DRD3, SLC6A3
19methamphetamine44 50 1111.8SNCA, DRD3, SLC6A3
20cocaine44 1110.7SNCA, DRD3, SLC6A3
21olanzapine44 50 28 24 1113.7DRD3, SLC6A3
22norepinephrine44 24 1111.6SNCA, DRD3, SLC6A3
23tunicamycin44 6110.6SLC6A3, PARK2
24catecholamine449.6DRD3, SNCA, PARK2
25nmda44 2810.6SLC6A3, DRD3, PARK2
261 methyl 4 phenylpyridinium449.6SLC6A3, SNCA, PARK2
27rotenone449.5SLC6A3, SNCA, PARK2
28opiate449.5SLC6A3, DRD3
29gtp44 2810.3DRD3, 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 119.9SLC6A3, DRD3, SNCA, PARK2, LRRK2
36dopamine44 28 24 1111.0LRRK2, 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:0162349.6LRRK2, SNCA
2synaptic vesicleGO:0080219.3LRRK2, SNCA
3axonGO:0304249.2LRRK2, SNCA, SLC6A3
4cytoplasmGO:0057377.8LRRK2, FUS, PARK2, SNCA, FMR1, SLC6A3

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:0352409.8DRD3, 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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet