ETM1
MCID: TRM024
MIFTS: 37

Tremor, Hereditary Essential, 1 (ETM1)

Categories: Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Tremor, Hereditary Essential, 1

MalaCards integrated aliases for Tremor, Hereditary Essential, 1:

Name: Tremor, Hereditary Essential, 1 56 71
Etm1 56 12 52 73
Hereditary Essential Tremor 1 12 29 6
Essential Tremor 1 12 15
Fet1 56 52
Tremor, Essential Hereditary, Type 1 39
Tremor, Familial Essential, 1; Fet1 56
Essential Tremor, Hereditary, 1 56
Tremor Hereditary Essential, 1 52
Tremor, Hereditary Essential 1 73
Tremor, Familial Essential, 1 56
Tremor Familial Essential, 1 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
age at onset ranges from 50 to 70 years
penetrance is usually complete by age 65 years
favorable response to alcohol in about 50%
prevalence of essential tremor ranges from 0.4 to 6% in the general population


HPO:

31
tremor, hereditary essential, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111428
OMIM 56 190300
OMIM Phenotypic Series 56 PS190300
MeSH 43 D020329
MedGen 41 C1860861
UMLS 71 C1860861

Summaries for Tremor, Hereditary Essential, 1

OMIM : 56 Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997). Deng et al. (2007) provided a detailed review of the genetics of essential tremor. (190300)

MalaCards based summary : Tremor, Hereditary Essential, 1, also known as etm1, is related to tremor, hereditary essential, 5 and tremor. An important gene associated with Tremor, Hereditary Essential, 1 is DRD3 (Dopamine Receptor D3). The drugs Ethanol and Soy Bean have been mentioned in the context of this disorder. Affiliated tissues include tongue and brain, and related phenotypes are dysarthria and hand tremor

Disease Ontology : 12 An essential tremor that has material basis in heterozygous mutation in DRD3 on chromosome 3q13.31.

UniProtKB/Swiss-Prot : 73 Tremor, hereditary essential 1: A common movement disorder mainly characterized by postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional disability or even incapacitation. Inheritance is autosomal dominant.

Related Diseases for Tremor, Hereditary Essential, 1

Graphical network of the top 20 diseases related to Tremor, Hereditary Essential, 1:



Diseases related to Tremor, Hereditary Essential, 1

Symptoms & Phenotypes for Tremor, Hereditary Essential, 1

Human phenotypes related to Tremor, Hereditary Essential, 1:

31
# Description HPO Frequency HPO Source Accession
1 dysarthria 31 HP:0001260
2 hand tremor 31 HP:0002378
3 postural tremor 31 HP:0002174

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
dysarthria
tremor, action (arms, tongue, head, legs and trunk)
tremor, postural (arms, tongue, head, legs and trunk)
fine rapid hand tremor, 4-12 hz

Clinical features from OMIM:

190300

GenomeRNAi Phenotypes related to Tremor, Hereditary Essential, 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after Maraba virus infection GR00252-A-1 9.66 DRD3 HS1BP3 LINGO2 SPON1
2 Decreased viability after Maraba virus infection GR00252-A-2 9.66 DRD3 HS1BP3 LINGO2 SPON1
3 Decreased viability after Maraba virus infection GR00252-A-3 9.66 HS1BP3 LINGO2 SPON1

Drugs & Therapeutics for Tremor, Hereditary Essential, 1

Drugs for Tremor, Hereditary Essential, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 2 64-17-5 702
2 Soy Bean Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor Completed NCT00102596 Phase 2 1-Octanol

Search NIH Clinical Center for Tremor, Hereditary Essential, 1

Genetic Tests for Tremor, Hereditary Essential, 1

Genetic tests related to Tremor, Hereditary Essential, 1:

# Genetic test Affiliating Genes
1 Hereditary Essential Tremor 1 29 DRD3

Anatomical Context for Tremor, Hereditary Essential, 1

MalaCards organs/tissues related to Tremor, Hereditary Essential, 1:

40
Tongue, Brain

Publications for Tremor, Hereditary Essential, 1

Articles related to Tremor, Hereditary Essential, 1:

(show all 41)
# Title Authors PMID Year
1
Genetics of essential tremor. 56 61
17353225 2007
2
Genetic heterogeneity in autosomal dominant essential tremor. 56 61
11388761 2001
3
Replication of the LINGO1 gene association with essential tremor in a North American population. 56
20372186 2010
4
Essential tremors: a family of neurodegenerative disorders? 56
19822775 2009
5
LINGO1 variant increases risk of familial essential tremor. 56
19805735 2009
6
Variant in the sequence of the LINGO1 gene confers risk of essential tremor. 56
19182806 2009
7
Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families. 56
16650084 2006
8
Population-based case-control study of cognitive function in essential tremor. 56
16401849 2006
9
Incidence of essential tremor in three elderly populations of central Spain. 56
15911798 2005
10
Genetic essential tremor in gamma-aminobutyric acidA receptor alpha1 subunit knockout mice. 56
15765150 2005
11
High concordance for essential tremor in monozygotic twins of old age. 56
14745055 2004
12
Essential tremor in twins: an assessment of genetic vs environmental determinants of etiology. 56
11673577 2001
13
Mild tremor in relatives of patients with essential tremor: what does this tell us about the penetrance of the disease? 56
11594916 2001
14
Clinical practice. Essential tremor. 56
11565522 2001
15
Risk of tremor and impairment from tremor in relatives of patients with essential tremor: a community-based family study. 56
11409428 2001
16
Samuel Adams' tremor. 56
11342687 2001
17
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. 56
9887334 1999
18
Evidence that a gene for essential tremor maps to chromosome 2p in four families. 56
9827627 1998
19
A gene (ETM) for essential tremor maps to chromosome 2p22-p25. 56
9399207 1997
20
Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. 56
9288103 1997
21
Accuracy of reported family histories of essential tremor. 56
8710092 1996
22
Tremor and longevity in relatives of patients with Parkinson's disease, essential tremor, and control subjects. 56
7723949 1995
23
A study of hereditary essential tremor. 56
7922467 1994
24
Familial paroxysmal tremor: an essential tremor variant. 56
8057106 1994
25
"Familial paroxysmal tremor": an essential tremor variant? 56
8270941 1993
26
Familial essential tremor and idiopathic torsion dystonia are different genetic entities. 56
8232931 1993
27
Is essential tremor benign? 56
1745359 1991
28
Essential tremor in a Finnish population. 56
7113680 1982
29
Essential tremor. 56
7018658 1981
30
Essential tremor: treatment with propranolol. 56
1237822 1975
31
Efficacy of chronic propranolol therapy in action tremors of the familial, senile or essential varieties. 56
4594525 1974
32
[On a hereditary essential tremor with brain atrophy]. 56
5294497 1965
33
Observations on essential (heredofamial) tremor. 56
18136705 1949
34
[Experimental study of offshore oil thickness hyperspectral inversion based on bio-optical model]. 61
22497155 2012
35
Genetics of essential tremor. 61
22166413 2012
36
Dopamine receptor 3 (DRD3) polymorphism and risk for migraine. 61
20236178 2010
37
Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients. 61
19092771 2009
38
Further evidence of genetic heterogeneity in familial essential tremor. 61
17703985 2008
39
Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea. 61
16092108 2005
40
A variant in the HS1-BP3 gene is associated with familial essential tremor. 61
15699368 2005
41
[Molecular genetic analysis of essential tremor]. 61
12575458 2002

Variations for Tremor, Hereditary Essential, 1

ClinVar genetic disease variations for Tremor, Hereditary Essential, 1:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DRD3 NM_000796.6(DRD3):c.691T>A (p.Cys231Ser)SNV Likely benign 342599 rs150042478 3:113858379-113858379 3:114139532-114139532
2 DRD3 NM_000796.6(DRD3):c.-252C>TSNV Likely benign 342608 rs36211803 3:113897720-113897720 3:114178873-114178873
3 DRD3 NM_000796.6(DRD3):c.-105G>ASNV Likely benign 342605 rs36211802 3:113897573-113897573 3:114178726-114178726
4 DRD3 NM_000796.6(DRD3):c.-286A>CSNV Likely benign 342610 rs190248679 3:113897754-113897754 3:114178907-114178907
5 DRD3 NM_000796.6(DRD3):c.-153T>GSNV Likely benign 342607 rs200345655 3:113897621-113897621 3:114178774-114178774
6 DRD3 NM_000796.6(DRD3):c.406G>A (p.Val136Ile)SNV Likely benign 899696 3:113866382-113866382 3:114147535-114147535
7 DRD3 NM_000796.6(DRD3):c.112G>A (p.Ala38Thr)SNV Likely benign 899697 3:113890728-113890728 3:114171881-114171881
8 DRD3 NM_000796.6(DRD3):c.25G>A (p.Gly9Ser)SNV Benign/Likely benign 16770 rs6280 3:113890815-113890815 3:114171968-114171968
9 DRD3 NM_000796.6(DRD3):c.1077C>T (p.His359=)SNV Benign/Likely benign 342595 rs3732791 3:113847689-113847689 3:114128842-114128842
10 DRD3 NM_000796.6(DRD3):c.987A>G (p.Gln329=)SNV Benign 342596 rs61735073 3:113849984-113849984 3:114131137-114131137
11 DRD3 NM_000796.6(DRD3):c.720G>A (p.Gln240=)SNV Benign 342598 rs2251177 3:113858350-113858350 3:114139503-114139503
12 DRD3 NM_000796.6(DRD3):c.51A>G (p.Ala17=)SNV Benign 342603 rs3732783 3:113890789-113890789 3:114171942-114171942
13 DRD3 NM_000796.6(DRD3):c.-333G>ASNV Benign 342612 rs36212175 3:113897801-113897801 3:114178954-114178954

Expression for Tremor, Hereditary Essential, 1

Search GEO for disease gene expression data for Tremor, Hereditary Essential, 1.

Pathways for Tremor, Hereditary Essential, 1

GO Terms for Tremor, Hereditary Essential, 1

Cellular components related to Tremor, Hereditary Essential, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 9.13 SLC1A2 RTN4R DRD3
2 extracellular matrix GO:0031012 8.92 SPON1 LINGO4 LINGO2 LINGO1

Biological processes related to Tremor, Hereditary Essential, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron development GO:0048666 9.16 TENM4 HTRA2
2 regulation of multicellular organism growth GO:0040014 8.96 HTRA2 DRD3
3 negative regulation of axonogenesis GO:0050771 8.62 RTN4R LINGO1

Sources for Tremor, Hereditary Essential, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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