ETM4
MCID: TRM017
MIFTS: 17

Tremor, Hereditary Essential, 4 (ETM4)

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

Aliases & Classifications for Tremor, Hereditary Essential, 4

MalaCards integrated aliases for Tremor, Hereditary Essential, 4:

Name: Tremor, Hereditary Essential, 4 57 29 13 6 40 73
Etm4 57 75
Essential Tremor, Hereditary, 4 57
Tremor, Hereditary Essential 4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
age at onset ranges from first to sixth decade


HPO:

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


Classifications:



External Ids:

OMIM 57 614782
MeSH 44 D020329
SNOMED-CT via HPO 69 263681008 56610005
UMLS 73 C3539195

Summaries for Tremor, Hereditary Essential, 4

UniProtKB/Swiss-Prot : 75 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, is also known as etm4, and has symptoms including action tremor and static tremor. An important gene associated with Tremor, Hereditary Essential, 4 is FUS (FUS RNA Binding Protein). Related phenotype is postural tremor.

Description from OMIM: 614782

Related Diseases for Tremor, Hereditary Essential, 4

Symptoms & Phenotypes for Tremor, Hereditary Essential, 4

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor, action
tremor, postural


Clinical features from OMIM:

614782

Human phenotypes related to Tremor, Hereditary Essential, 4:

32
# 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:

# Genetic test Affiliating Genes
1 Tremor, Hereditary Essential, 4 29 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:

75
# 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 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 GRCh37 Chromosome 16, 31202739: 31202739
2 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 GRCh38 Chromosome 16, 31191418: 31191418
3 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh37 Chromosome 16, 31196382: 31196382
4 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 GRCh38 Chromosome 16, 31185061: 31185061
5 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs186547381 GRCh37 Chromosome 16, 31201719: 31201719
6 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs186547381 GRCh38 Chromosome 16, 31190398: 31190398
7 FUS NM_004960.3(FUS): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic rs387907274 GRCh37 Chromosome 16, 31200479: 31200479
8 FUS NM_004960.3(FUS): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic rs387907274 GRCh38 Chromosome 16, 31189158: 31189158
9 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 GRCh38 Chromosome 16, 31182627: 31182627
10 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 GRCh37 Chromosome 16, 31193948: 31193948
11 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 GRCh37 Chromosome 16, 31193994: 31193994
12 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 GRCh38 Chromosome 16, 31182673: 31182673
13 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 GRCh37 Chromosome 16, 31196255: 31196255
14 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 GRCh38 Chromosome 16, 31184934: 31184934
15 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 GRCh37 Chromosome 16, 31202800: 31202800
16 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 GRCh38 Chromosome 16, 31191479: 31191479
17 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 GRCh37 Chromosome 16, 31201450: 31201450
18 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 GRCh38 Chromosome 16, 31190129: 31190129
19 FUS NM_004960.3(FUS): c.661_663delAGT (p.Ser221del) deletion Uncertain significance rs746633090 GRCh38 Chromosome 16, 31185076: 31185078
20 FUS NM_004960.3(FUS): c.661_663delAGT (p.Ser221del) deletion Uncertain significance rs746633090 GRCh37 Chromosome 16, 31196397: 31196399
21 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 GRCh37 Chromosome 16, 31202744: 31202744
22 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 GRCh38 Chromosome 16, 31191423: 31191423
23 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 GRCh37 Chromosome 16, 31195186: 31195186
24 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 GRCh38 Chromosome 16, 31183865: 31183865
25 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign GRCh38 Chromosome 16, 31185099: 31185101
26 FUS NM_004960.3(FUS): c.684_686delCGG (p.Gly231del) deletion Likely benign GRCh37 Chromosome 16, 31196420: 31196422
27 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 31202742: 31202742
28 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 31191421: 31191421
29 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign GRCh37 Chromosome 16, 31195715: 31195720
30 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign GRCh38 Chromosome 16, 31184394: 31184399
31 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 GRCh37 Chromosome 16, 31196372: 31196372
32 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 GRCh38 Chromosome 16, 31185051: 31185051
33 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 GRCh37 Chromosome 16, 31201598: 31201598
34 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 GRCh38 Chromosome 16, 31190277: 31190277
35 FUS NM_004960.3(FUS): c.1111C> T (p.Arg371Cys) single nucleotide variant Uncertain significance rs773141319 GRCh37 Chromosome 16, 31201405: 31201405
36 FUS NM_004960.3(FUS): c.1111C> T (p.Arg371Cys) single nucleotide variant Uncertain significance rs773141319 GRCh38 Chromosome 16, 31190084: 31190084
37 FUS NM_004960.3(FUS): c.688_693dup (p.Gly231_Tyr232insGlyGly) duplication Uncertain significance GRCh38 Chromosome 16, 31185103: 31185108
38 FUS NM_004960.3(FUS): c.688_693dup (p.Gly231_Tyr232insGlyGly) duplication Uncertain significance GRCh37 Chromosome 16, 31196424: 31196429
39 FUS NM_004960.3(FUS): c.743G> A (p.Arg248His) single nucleotide variant Uncertain significance rs760351730 GRCh38 Chromosome 16, 31185158: 31185158
40 FUS NM_004960.3(FUS): c.743G> A (p.Arg248His) single nucleotide variant Uncertain significance rs760351730 GRCh37 Chromosome 16, 31196479: 31196479
41 FUS NM_004960.3(FUS): c.*108C> T single nucleotide variant Uncertain significance rs780606789 GRCh37 Chromosome 16, 31202867: 31202867
42 FUS NM_004960.3(FUS): c.*108C> T single nucleotide variant Uncertain significance rs780606789 GRCh38 Chromosome 16, 31191546: 31191546

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

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74 UMLS via Orphanet
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