MCID: ESS001
MIFTS: 61

Essential Tremor malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Essential Tremor

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NIH Rare Diseases:41 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 tremor, hereditary essential, 1, is related to migraine 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 testes, and related mouse phenotypes are integument and mortality/aging.

Disease Ontology:9 A movement disorder that causes involuntary tremors, especially in the hands. it occurs alone without other neurological signs and symptoms.

NINDS:42 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.

OMIM:45 Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural... (190300) more...

Wikipedia:63 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 45 9 41 21 42 11 43 60
Tremor, Hereditary Essential, 1 45 41 60
Tremor Hereditary Essential, 1 41 20 22
Benign Essential Tremor 9 41 21
Hereditary Essential Tremor 41 21
Familial Tremor 21 60
Essential Tremor, Susceptibility to 10
 
Tremor Familial Essential, 1 41
Essential Hereditary Tremor 9
Presenile Tremor Syndrome 41
Familial Essential Tremor 41
Shaky Hand Syndrome 9
Fet1 41
Etm1 41


Classifications:

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


External Ids:

OMIM45 190300
Disease Ontology9 DOID:4990
ICD9CM27 333.1
SNOMED-CT55 192839001, 632009
MeSH33 D020329
ICD1025 G25.0

Related Diseases for Essential Tremor

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Diseases in the Tremor family:

Tremor, Hereditary Essential, 2 Tremor, Hereditary Essential, 3
Tremor, Hereditary Essential, 4 essential tremor

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1migraine30.6DRD3, SLC6A3
2obsessive-compulsive disorder30.4SLC6A3, DRD3
3schizophrenia30.3DRD3, SLC6A3, FMR1, SNCA
4spinocerebellar ataxia30.3SNCA, FMR1
5dementia30.0SNCA, FMR1, LRRK2, PARK2, SLC6A3
6multiple system atrophy29.9FMR1, SNCA, LRRK2, SLC6A3, PARK2
7alzheimer disease29.7SNCA, DRD3, PARK2, LRRK2, SLC6A3
8tremor11.4
9dystonia10.6
10cervical dystonia10.5
11cervicitis10.5
12parkinson disease 110.4SNCA
13neuronitis10.4
14restless legs syndrome10.4
15blindness10.4
16personality disorder10.3SLC6A3, DRD3
17substance dependence10.3SLC6A3, DRD3
18pathological gambling10.3SLC6A3, DRD3
19drug dependence10.3DRD3, SLC6A3
20gilles de la tourette syndrome10.3SLC6A3, DRD3
21ataxia10.3
22sensorineural hearing loss - early graying - essential tremor10.3
23cocaine dependence10.3DRD3, SLC6A3
24drug addiction10.3DRD3, SLC6A3
25rem sleep behavior disorder10.3SLC6A3, SNCA
26striatonigral degeneration10.3SNCA, SLC6A3
27alcohol abuse10.3SLC6A3, DRD3
28substance abuse10.2DRD3, SLC6A3
29movement disease10.2SNCA, LRRK2
30machado-joseph disease10.2SNCA, SLC6A3
31cerebritis10.2
32sarcoma10.2
33deep brain stimulation for parkinson's disease10.2
34supranuclear palsy, progressive10.2SLC6A3, FUS
35attention deficit-hyperactivity disorder10.1FMR1, SLC6A3
36psychotic disorder10.1DRD3, SLC6A3
37alcohol dependence10.1SNCA, DRD3, SLC6A3
38dementia, lewy body10.1LRRK2, SLC6A3, SNCA
39cerebellar ataxia10.1
40hydrocephalus10.1
41klinefelter's syndrome10.1
42normal pressure hydrocephalus10.1
43blepharospasm10.1
44muscular atrophy10.1
45dysgraphia10.1
46apraxia10.1
47hypothyroidism10.1
48thyroiditis10.1
49neurologic diseases10.1
50cerebellar degeneration10.1

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 UMLS60/NDF-RT39:

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:

31
Brain, Cortex, Testes, Thalamus, 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:

35
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 576)
idTitleAuthorsYear
1
Genetic analysis of FMR1 repeat expansion in essential tremor. (25796179)
2015
2
Are Patients with Limb and Head Tremor a Clinically Distinct Subtype of Essential Tremor? (25857448)
2015
3
Non-steroidal anti-inflammatory drug use and essential tremor. (25376662)
2014
4
Re-thinking the biology of essential tremor: from models to morphology. (24262197)
2014
5
Functional Anatomy of Essential Tremor: Lessons from Neuroimaging. (23620075)
2013
6
Key issues in essential tremor genetics research: Where are we now and how can we move forward? (23450143)
2013
7
The microtubule associated protein tau H1 haplotype and risk of essential tremor. (24372973)
2013
8
Abnormal regional homogeneity in patients with essential tremor revealed by resting-state functional MRI. (23869236)
2013
9
Ocular flutter in essential tremor: clinical course and response to primidone. (24061767)
2013
10
Temporal discrimination in patients with dystonia and tremor and patients with essential tremor. (23243072)
2013
11
Is there a one-way street from essential tremor to Parkinson's disease? Possible biological ramifications. (24033795)
2013
12
Simultaneous thalamic and posterior subthalamic electrode insertion with single deep brain stimulation electrode for essential tremor. (22985104)
2013
13
The safety and efficacy of thalamic deep brain stimulation in essential tremor: 10 years and beyond. (24096713)
2013
14
Neuroanatomical heterogeneity of essential tremor according to propranolol response. (24358327)
2013
15
Autonomic function, as self-reported on the SCOPA-autonomic questionnaire, is normal in essential tremor but not in Parkinson's disease. (22771283)
2012
16
Thalamic and subthalamic deep brain stimulation for essential tremor: where is the optimal target? (22426044)
2012
17
White matter hyperintensity burden on magnetic resonance imaging in essential tremor. (23439769)
2012
18
Blink reflex recovery cycle in patients with essential tremor associated with resting tremor. (22993289)
2012
19
Psychiatric disorders in patients with essential tremor. (22658234)
2012
20
Long-term benefits in quality of life after unilateral thalamic deep brain stimulation for essential tremor. (22519432)
2012
21
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
22
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
23
Analysis of Lingo1 variant in sporadic and familial essential tremor among Asians. (21158743)
2011
24
Factors associated with receptivity to deep brain stimulation surgery among essential tremor cases. (21561796)
2011
25
Estimating annual rate of decline: prospective, longitudinal data on arm tremor severity in two groups of essential tremor cases. (21436230)
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
"Hairy baskets" associated with degenerative Purkinje cell changes in essential tremor. (20142764)
2010
33
Genetics of Parkinson disease and essential tremor. (20489616)
2010
34
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
35
Tandem gait performance in essential tremor: clinical correlates and association with midline tremors. (20629168)
2010
36
Relationship between blood harmane and harmine concentrations in familial essential tremor, sporadic essential tremor and controls. (20708029)
2010
37
Clustering of dystonia in some pedigrees with autosomal dominant essential tremor suggests the existence of a distinct subtype of essential tremor. (20670416)
2010
38
Essential tremor with ubiquitinated Purkinje cell intranuclear inclusions. (20107820)
2010
39
Gait and balance in essential tremor: variable effects of bilateral thalamic stimulation. (19006189)
2009
40
Prevalence of essential tremor: a door-to-door survey in Sile, Istanbul, Turkey. (18474448)
2009
41
An update on essential tremor. (19515278)
2009
42
Mirror movements in patients with essential tremor. (19795466)
2009
43
Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor. (18718804)
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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Search GEO for disease gene expression data for Essential Tremor.

Pathways for genes affiliated with Essential Tremor

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Pathways related to Essential Tremor according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteolysis Role of Parkin in the Ubiquitin Proteasomal Pathway58
9.5SNCA, PARK2
29.2SLC6A3, SNCA, PARK2
3
Show member pathways
8.7SLC6A3, SNCA, PARK2, LRRK2
48.7SLC6A3, SNCA, PARK2, LRRK2
58.7LRRK2, PARK2, SNCA, FMR1

Compounds for genes affiliated with Essential Tremor

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Compounds related to Essential Tremor according to GeneCards Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1duloxetine43 49 28 1213.2DRD3, SLC6A3
2raclopride43 2811.2SLC6A3, DRD3
3piperazine43 1211.2SLC6A3, DRD3
4sulpiride43 28 1212.2DRD3, SLC6A3
5pramipexole43 28 49 1213.2SLC6A3, DRD3
6quinpirole43 2811.2SLC6A3, DRD3
7heroin43 49 1212.1SLC6A3, DRD3
8bupropion49 43 24 1213.1SLC6A3, DRD3
9paroxetine43 49 28 1213.1DRD3, SLC6A3
101-benzyl-1,2,3,4-tetrahydroisoquinoline4310.1SLC6A3, SNCA
11quetiapine43 49 28 24 1214.1SLC6A3, DRD3
12dopac4310.0DRD3, PARK2
13bromocriptine43 28 1212.0SLC6A3, DRD3
14risperidone43 49 28 59 24 1215.0SLC6A3, DRD3
15selegiline43 1211.0SLC6A3, SNCA
16imipramine43 28 49 24 1213.8SLC6A3, DRD3
17amphetamine43 49 1211.8SNCA, SLC6A3
18apomorphine28 43 1211.8SNCA, DRD3, SLC6A3
19methamphetamine43 49 1211.8SNCA, DRD3, SLC6A3
20cocaine43 1210.7SNCA, DRD3, SLC6A3
21olanzapine43 49 28 24 1213.7DRD3, SLC6A3
22norepinephrine43 24 1211.6SNCA, DRD3, SLC6A3
23tunicamycin43 5910.6SLC6A3, PARK2
24catecholamine439.6DRD3, SNCA, PARK2
25nmda43 2810.6SLC6A3, DRD3, PARK2
261 methyl 4 phenylpyridinium439.6SLC6A3, SNCA, PARK2
27rotenone439.5SLC6A3, SNCA, PARK2
28opiate439.5SLC6A3, DRD3
29gtp43 2810.3DRD3, PARK2, LRRK2
30glutamate439.3SNCA, FMR1, DRD3, SLC6A3
316-hydroxydopamine439.3PARK2, SNCA, DRD3, SLC6A3
32mptp439.3PARK2, SNCA, DRD3, SLC6A3
33gaba439.3FMR1, GJD2, SLC6A3
34cysteine439.1PARK2, SNCA, DRD3, SLC6A3
35levodopa43 129.9SLC6A3, DRD3, SNCA, PARK2, LRRK2
36dopamine43 28 24 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1inclusion bodyGO:00162349.6SNCA, LRRK2
2synaptic vesicleGO:00080219.3LRRK2, SNCA
3axonGO:00304249.2SLC6A3, SNCA, LRRK2
4cytoplasmGO:00057377.8SLC6A3, FMR1, SNCA, PARK2, FUS, LRRK2

Biological processes related to Essential Tremor according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dopamine receptor signaling pathwayGO:006016110.0DRD3, LRRK2
2prepulse inhibitionGO:00601349.9DRD3, SLC6A3
3regulation of dopamine secretionGO:00140599.9DRD3, SNCA
4behavioral response to cocaineGO:00481489.9DRD3, SNCA
5dopamine biosynthetic processGO:00424169.9SNCA, SLC6A3
6regulation of locomotionGO:00400129.9SNCA, LRRK2
7response to cocaineGO:00422209.8SLC6A3, DRD3
8locomotory behaviorGO:00076269.8SLC6A3, DRD3
9neuron deathGO:00709979.7PARK2, LRRK2
10negative regulation of protein phosphorylationGO:00019339.4PARK2, SNCA
11cell deathGO:00082199.2SLC6A3, PARK2, FUS
12response to drugGO:00424939.1SLC6A3, DRD3, SNCA

Molecular functions related to Essential Tremor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:00352409.8SLC6A3, DRD3
2drug bindingGO:00081449.8SLC6A3, DRD3
3identical protein bindingGO:00428028.5SNCA, PARK2, FUS, LRRK2
4protein bindingGO:00055157.2LRRK2, FUS, PARK2, SNCA, FMR1, DRD3

Products for genes affiliated with Essential Tremor

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Sources for Essential Tremor

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3CDC
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
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51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet