ETM2
MCID: TRM020
MIFTS: 27

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 56 13 71
Etm2 56 12 52
Essential Tremor 2 12 15
Essential Tremor, Hereditary, 2 56
Tremor Hereditary Essential, 2 52
Hereditary Essential Tremor 2 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
tremor, hereditary essential, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111429
OMIM 56 602134
OMIM Phenotypic Series 56 PS190300
MedGen 41 C1865810
UMLS 71 C1865810

Summaries for Tremor, Hereditary Essential, 2

Disease Ontology : 12 An essential tremor that has material basis in heterozygous mutation in a region on chromosome 2p25-p22.

MalaCards based summary : Tremor, Hereditary Essential, 2, also known as etm2, is related to tremor and essential 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

Graphical network of the top 20 diseases related to Tremor, Hereditary Essential, 2:



Diseases related to Tremor, Hereditary Essential, 2

Symptoms & Phenotypes for Tremor, Hereditary Essential, 2

Human phenotypes related to Tremor, Hereditary Essential, 2:

31
# Description HPO Frequency HPO Source Accession
1 fatigue 31 HP:0012378
2 upper limb postural tremor 31 HP:0007351
3 kinetic tremor 31 HP:0030186

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Tremor, Hereditary Essential, 2 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, 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. 61 56
15699368 2005
2
Integrated physical map of the human essential tremor gene region (ETM2) on chromosome 2p24.3-p24.2. 61 56
15108195 2004
3
Haplotype analysis of the ETM2 locus in familial essential tremor. 56 61
12761658 2003
4
Extended study of A265G variant of HS1BP3 in essential tremor and Parkinson disease. 56
16116142 2005
5
Evidence that a gene for essential tremor maps to chromosome 2p in four families. 56
9827627 1998
6
A gene (ETM) for essential tremor maps to chromosome 2p22-p25. 56
9399207 1997
7
Repetitive mammalian dwarfing during ancient greenhouse warming events. 61
28345031 2017
8
Genetics of essential tremor: meta-analysis and review. 61
24532269 2014
9
Genetics of essential tremor. 61
22166413 2012
10
No association with the ETM2 locus in Czech patients with familial essential tremor. 61
20802447 2010
11
Further evidence of genetic heterogeneity in familial essential tremor. 61
17703985 2008
12
Genetics of essential tremor. 61
17353225 2007
13
Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea. 61
16092108 2005
14
Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor. 61
15355439 2004
15
[Molecular genetic analysis of essential tremor]. 61
12575458 2002
16
Genetic heterogeneity in autosomal dominant essential tremor. 61
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

Cellular components related to Tremor, Hereditary Essential, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.92 SPON1 LINGO4 LINGO2 LINGO1

Biological processes related to Tremor, Hereditary Essential, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron development GO:0048666 8.96 TENM4 HTRA2
2 regulation of multicellular organism growth GO:0040014 8.62 HTRA2 DRD3

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 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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