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 57 13 73
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:

OMIM 57 602134
MedGen 42 C1865810
UMLS 73 C1865810

Summaries for Tremor, Hereditary Essential, 2

MalaCards based summary : Tremor, Hereditary Essential, 2, also known as etm2, is related to essential tremor and perrault syndrome 1, 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 perrault syndrome 1 11.1
3 tremor 10.4

Symptoms & Phenotypes for Tremor, Hereditary Essential, 2

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

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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