ETM4
MCID: TRM017
MIFTS: 18

Tremor, Hereditary Essential, 4 (ETM4) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Tremor, Hereditary Essential, 4

Aliases & Descriptions for Tremor, Hereditary Essential, 4:

Name: Tremor, Hereditary Essential, 4 54 24 13 69
Tremor, Hereditary Essential 4 66 29
Hereditary Essential Tremor 4 24
Etm4 66

Characteristics:

HPO:

32
tremor, hereditary essential, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614782
MeSH 42 D020329

Summaries for Tremor, Hereditary Essential, 4

UniProtKB/Swiss-Prot : 66 Tremor, hereditary essential 4: 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.

MalaCards based summary : Tremor, Hereditary Essential, 4, also known as tremor, hereditary essential 4, is related to essential tremor, and has symptoms including postural tremor, action tremor and static tremor. An important gene associated with Tremor, Hereditary Essential, 4 is FUS (FUS RNA Binding Protein).

Description from OMIM: 614782

Related Diseases for Tremor, Hereditary Essential, 4

Diseases in the Tremor family:

Tremor, Hereditary Essential, 2 Essential Tremor
Tremor, Hereditary Essential, 3 Tremor, Hereditary Essential, 4
Hereditary Essential Tremor 5

Diseases related to Tremor, Hereditary Essential, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 essential tremor 10.9

Symptoms & Phenotypes for Tremor, Hereditary Essential, 4

Symptoms by clinical synopsis from OMIM:

614782

Clinical features from OMIM:

614782

Human phenotypes related to Tremor, Hereditary Essential, 4:

32
id Description HPO Frequency HPO Source Accession
1 postural tremor 32 HP:0002174

UMLS symptoms related to Tremor, Hereditary Essential, 4:


action tremor, static tremor

Drugs & Therapeutics for Tremor, Hereditary Essential, 4

Search Clinical Trials , NIH Clinical Center for Tremor, Hereditary Essential, 4

Genetic Tests for Tremor, Hereditary Essential, 4

Genetic tests related to Tremor, Hereditary Essential, 4:

id Genetic test Affiliating Genes
1 Tremor, Hereditary Essential, 4 29
2 Hereditary Essential Tremor 4 24 FUS

Anatomical Context for Tremor, Hereditary Essential, 4

Publications for Tremor, Hereditary Essential, 4

Variations for Tremor, Hereditary Essential, 4

UniProtKB/Swiss-Prot genetic disease variations for Tremor, Hereditary Essential, 4:

66
id Symbol AA change Variation ID SNP ID
1 FUS p.Arg216Cys VAR_068919 rs267606832
2 FUS p.Pro431Leu VAR_068923 rs186547381

ClinVar genetic disease variations for Tremor, Hereditary Essential, 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh37 Chromosome 16, 31196382: 31196382
2 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Pathogenic rs186547381 GRCh37 Chromosome 16, 31201719: 31201719
3 FUS NM_004960.3(FUS): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic rs387907274 GRCh37 Chromosome 16, 31200479: 31200479

Expression for Tremor, Hereditary Essential, 4

Search GEO for disease gene expression data for Tremor, Hereditary Essential, 4.

Pathways for Tremor, Hereditary Essential, 4

GO Terms for Tremor, Hereditary Essential, 4

Sources for Tremor, Hereditary Essential, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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