ETM4
MCID: TRM017
MIFTS: 21

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 72
Etm4 57 74
Essential Tremor, Hereditary, 4 57
Tremor, Hereditary Essential 4 74

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:

MeSH 44 D020329
UMLS 72 C3539195

Summaries for Tremor, Hereditary Essential, 4

UniProtKB/Swiss-Prot : 74 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.

More information from OMIM: 614782 PS190300

Related Diseases for Tremor, Hereditary Essential, 4

Symptoms & Phenotypes for Tremor, Hereditary Essential, 4

Human phenotypes related to Tremor, Hereditary Essential, 4:

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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

614782

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

Articles related to Tremor, Hereditary Essential, 4:

# Title Authors PMID Year
1
Exome sequencing identifies FUS mutations as a cause of essential tremor. 8 71
22863194 2012
2
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. 71
19861302 2010

Variations for Tremor, Hereditary Essential, 4

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

6 (show all 30)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FUS NM_004960.3(FUS): c.1561C> G (p.Arg521Gly) single nucleotide variant Pathogenic rs121909668 16:31202739-31202739 16:31191418-31191418
2 FUS NM_004960.3(FUS): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs267606832 16:31196382-31196382 16:31185061-31185061
3 FUS NM_004960.3(FUS): c.1507_1508AG[3] (p.Gly504fs) short repeat Pathogenic 16:31202396-31202397 16:31191076-31191077
4 FUS NM_004960.3(FUS): c.868C> T (p.Gln290Ter) single nucleotide variant Pathogenic rs387907274 16:31200479-31200479 16:31189158-31189158
5 FUS NM_004960.3(FUS): c.1555C> G (p.Gln519Glu) single nucleotide variant Uncertain significance 16:31202733-31202733 16:31191412-31191412
6 FUS NM_004960.3(FUS): c.1111C> T (p.Arg371Cys) single nucleotide variant Uncertain significance 16:31201405-31201405 16:31190084-31190084
7 FUS NM_004960.3(FUS): c.685_687GGT[5] (p.Gly230_Gly231dup) short repeat Uncertain significance 16:31196424-31196429 16:31185103-31185108
8 FUS NM_004960.3(FUS): c.743G> A (p.Arg248His) single nucleotide variant Uncertain significance 16:31196479-31196479 16:31185158-31185158
9 FUS NM_004960.3(FUS): c.1446C> T (p.Gly482=) single nucleotide variant Uncertain significance 16:31202336-31202336 16:31191015-31191015
10 FUS NM_004960.3(FUS): c.1394G> A (p.Gly465Glu) single nucleotide variant Uncertain significance 16:31202284-31202284 16:31190963-31190963
11 FUS NM_004960.3(FUS): c.1204_1206del (p.Ser402del) deletion Uncertain significance 16:31201631-31201633 16:31190310-31190312
12 FUS NM_004960.3(FUS): c.688G> T (p.Gly230Cys) single nucleotide variant Uncertain significance 16:31196424-31196424 16:31185103-31185103
13 FUS NM_004960.3(FUS): c.685_687GGT[6] (p.Gly229_Gly231dup) short repeat Uncertain significance 16:31196420-31196421 16:31185100-31185102
14 FUS NM_004960.3(FUS): c.673G> A (p.Gly225Ser) single nucleotide variant Uncertain significance 16:31196409-31196409 16:31185088-31185088
15 FUS NM_004960.3(FUS): c.669_671CGG[8] (p.Gly230_Gly231dup) short repeat Uncertain significance 16:31196402-31196403 16:31185084-31185086
16 FUS NM_004960.3(FUS): c.*108C> T single nucleotide variant Uncertain significance 16:31202867-31202867 16:31191546-31191546
17 FUS NM_004960.3(FUS): c.1292C> T (p.Pro431Leu) single nucleotide variant Uncertain significance rs186547381 16:31201719-31201719 16:31190398-31190398
18 FUS NM_004960.3(FUS): c.1171C> G (p.Pro391Ala) single nucleotide variant Uncertain significance rs560450437 16:31201598-31201598 16:31190277-31190277
19 FUS NM_004960.3(FUS): c.661_663del (p.Ser221del) deletion Uncertain significance rs746633090 16:31196397-31196399 16:31185076-31185078
20 FUS NM_004960.3(FUS): c.1564A> G (p.Arg522Gly) single nucleotide variant Uncertain significance rs1555509693 16:31202742-31202742 16:31191421-31191421
21 FUS NM_004960.3(FUS): c.669_671CGG[5] (p.Gly231del) short repeat Likely benign rs72550890 16:31196420-31196422 16:31185099-31185101
22 FUS NM_004960.3(FUS): c.1156C> A (p.Arg386=) single nucleotide variant Benign/Likely benign rs61733965 16:31201450-31201450 16:31190129-31190129
23 FUS NM_004960.3(FUS): c.*41G> A single nucleotide variant Benign/Likely benign rs80301724 16:31202800-31202800 16:31191479-31191479
24 FUS NM_004960.3(FUS): c.524-5C> T single nucleotide variant Benign/Likely benign rs73530287 16:31196255-31196255 16:31184934-31184934
25 FUS NM_004960.3(FUS): c.153C> T (p.Gly51=) single nucleotide variant Benign/Likely benign rs61733962 16:31193948-31193948 16:31182627-31182627
26 FUS NM_004960.3(FUS): c.190+9T> C single nucleotide variant Benign/Likely benign rs73530283 16:31193994-31193994 16:31182673-31182673
27 FUS NM_004960.3(FUS): c.1566G> A (p.Arg522=) single nucleotide variant Benign rs138901914 16:31202744-31202744 16:31191423-31191423
28 FUS NM_004960.3(FUS): c.521_523+3delGAGGTG deletion Benign rs537605135 16:31195715-31195720 16:31184394-31184399
29 FUS NM_004960.3(FUS): c.636C> T (p.Asp212=) single nucleotide variant Benign rs147528034 16:31196372-31196372 16:31185051-31185051
30 FUS NM_004960.3(FUS): c.198T> C (p.Tyr66=) single nucleotide variant Benign rs144853447 16:31195186-31195186 16:31183865-31183865

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

74
# Symbol AA change Variation ID SNP ID
1 FUS p.Arg216Cys VAR_068919 rs267606832
2 FUS p.Pro431Leu VAR_068923 rs186547381

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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64 QIAGEN
69 SNOMED-CT via HPO
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71 Tocris
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73 UMLS via Orphanet
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