ETM2
MCID: TRM020
MIFTS: 19

Tremor, Hereditary Essential, 2 (ETM2)

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

Aliases & Classifications for Tremor, Hereditary Essential, 2

MalaCards integrated aliases for Tremor, Hereditary Essential, 2:

Name: Tremor, Hereditary Essential, 2 57 13 72
Etm2 57 53
Essential Tremor, Hereditary, 2 57
Tremor Hereditary Essential, 2 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
tremor, hereditary essential, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MedGen 42 C1865810
UMLS 72 C1865810

Summaries for Tremor, Hereditary Essential, 2

MalaCards based summary : Tremor, Hereditary Essential, 2, also known as etm2, is related to essential tremor and tremor, and has symptoms including tremor An important gene associated with Tremor, Hereditary Essential, 2 is ETM2 (Essential Tremor 2). Related phenotypes are fatigue and upper limb postural tremor

More information from OMIM: 602134 PS190300

Related Diseases for Tremor, Hereditary Essential, 2

Diseases in the Tremor family:

Tremor, Hereditary Essential, 1 Tremor, Hereditary Essential, 2
Tremor, Hereditary Essential, 3 Tremor, Hereditary Essential, 4
Tremor, Hereditary Essential, 5 Essential Tremor
Rare Tremor Disorder

Diseases related to Tremor, Hereditary Essential, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 essential tremor 11.8
2 tremor 11.7
3 tremor, hereditary essential, 1 10.2
4 movement disease 10.2

Symptoms & Phenotypes for Tremor, Hereditary Essential, 2

Human phenotypes related to Tremor, Hereditary Essential, 2:

32
# Description HPO Frequency HPO Source Accession
1 fatigue 32 HP:0012378
2 upper limb postural tremor 32 HP:0007351
3 kinetic tremor 32 HP:0030186

Symptoms via clinical synopsis from OMIM:

57
Neuro:
essential tremor
postural tremor of arms
variable tremor of head, legs, trunk, voice, jaw, and facial muscles

Misc:
aggravated by emotions, hunger, fatigue, and temperature extremes
beta-adrenergic blocking agents and primidone partially effective
significant side-effects of therapy
anticipation suggested in one family

Clinical features from OMIM:

602134

UMLS symptoms related to Tremor, Hereditary Essential, 2:


tremor

Drugs & Therapeutics for Tremor, Hereditary Essential, 2

Search Clinical Trials , NIH Clinical Center for Tremor, Hereditary Essential, 2

Genetic Tests for Tremor, Hereditary Essential, 2

Anatomical Context for Tremor, Hereditary Essential, 2

Publications for Tremor, Hereditary Essential, 2

Articles related to Tremor, Hereditary Essential, 2:

(show all 16)
# Title Authors PMID Year
1
A variant in the HS1-BP3 gene is associated with familial essential tremor. 38 8
15699368 2005
2
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2. 38 8
15108195 2004
3
Haplotype analysis of the ETM2 locus in familial essential tremor. 38 8
12761658 2003
4
Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. 8
16116142 2005
5
Evidence that a gene for essential tremor maps to chromosome 2p in four families. 8
9827627 1998
6
A gene (ETM) for essential tremor maps to chromosome 2p22-p25. 8
9399207 1997
7
Repetitive mammalian dwarfing during ancient greenhouse warming events. 38
28345031 2017
8
Genetics of essential tremor: meta-analysis and review. 38
24532269 2014
9
Genetics of essential tremor. 38
22166413 2012
10
No association with the ETM2 locus in Czech patients with familial essential tremor. 38
20802447 2010
11
Further evidence of genetic heterogeneity in familial essential tremor. 38
17703985 2008
12
Genetics of essential tremor. 38
17353225 2007
13
Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea. 38
16092108 2005
14
Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor. 38
15355439 2004
15
[Molecular genetic analysis of essential tremor]. 38
12575458 2002
16
Genetic heterogeneity in autosomal dominant essential tremor. 38
11388761 2001

Variations for Tremor, Hereditary Essential, 2

Expression for Tremor, Hereditary Essential, 2

Search GEO for disease gene expression data for Tremor, Hereditary Essential, 2.

Pathways for Tremor, Hereditary Essential, 2

GO Terms for Tremor, Hereditary Essential, 2

Sources for Tremor, Hereditary Essential, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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