ETM2
MCID: TRM020
MIFTS: 18

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 58 13 74
Etm2 58 54
Essential Tremor, Hereditary, 2 58
Tremor Hereditary Essential, 2 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
tremor, hereditary essential, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 602134
MedGen 43 C1865810
UMLS 74 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

Description from OMIM: 602134

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

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 11.7
2 tremor 11.6
3 perrault syndrome 1 11.1

Symptoms & Phenotypes for Tremor, Hereditary Essential, 2

Human phenotypes related to Tremor, Hereditary Essential, 2:

33
# Description HPO Frequency HPO Source Accession
1 fatigue 33 HP:0012378
2 upper limb postural tremor 33 HP:0007351
3 kinetic tremor 33 HP:0030186

Symptoms via clinical synopsis from OMIM:

58
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:

# Title Authors Year
1
Haplotype analysis of the ETM2 locus in familial essential tremor. ( 12761658 )
2003

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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