ETM4
MCID: TRM017
MIFTS: 34

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 56 29 13 6 71
Etm4 56 12 73
Essential Tremor 4 12 15
Tremor, Hereditary Essential, Type 4 39
Essential Tremor, Hereditary, 4 56
Tremor, Hereditary Essential 4 73
Hereditary Essential Tremor 4 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
age at onset ranges from first to sixth decade


HPO:

31
tremor, hereditary essential, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111431
OMIM 56 614782
OMIM Phenotypic Series 56 PS190300
MeSH 43 D020329
SNOMED-CT via HPO 68 263681008 56610005
UMLS 71 C3539195

Summaries for Tremor, Hereditary Essential, 4

UniProtKB/Swiss-Prot : 73 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 etm4, is related to tremor and tremor, hereditary essential, 2, and has symptoms including action tremor and static tremor. An important gene associated with Tremor, Hereditary Essential, 4 is FUS (FUS RNA Binding Protein), and among its related pathways/superpathways are mRNA Splicing - Major Pathway and Translational Control. Related phenotype is postural tremor.

Disease Ontology : 12 An essential tremor that has material basis in heterozygous mutation in FUS on chromosome 16p11.2.

More information from OMIM: 614782 PS190300

Related Diseases for Tremor, Hereditary Essential, 4

Graphical network of the top 20 diseases related to Tremor, Hereditary Essential, 4:



Diseases related to Tremor, Hereditary Essential, 4

Symptoms & Phenotypes for Tremor, Hereditary Essential, 4

Human phenotypes related to Tremor, Hereditary Essential, 4:

31
# Description HPO Frequency HPO Source Accession
1 postural tremor 31 HP:0002174

Symptoms via clinical synopsis from OMIM:

56
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Study of DaTSCAN ™ Cerebral Tomoscintigraphy Recorded by Conventional Anger Cameras and Semiconductor Camera (VERITON-CT ™) Not yet recruiting NCT03980418

Search 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. 6 56
22863194 2012
2
Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. 6
19861302 2010
3
[Polygraphic validation of distraction tasks in clinical differential tremor diagnosis]. 61
9834478 1998
4
Prevalence of movement disorders in institutionalized elderly. 61
8570001 1995
5
Stress and alcohol interaction: an update of human research. 61
1898494 1991
6
[Symptomatology of the involuntary movement]. 61
2012697 1991
7
Hereditary neurodegenerative disorders in Nigerian Africans. 61
6230542 1984

Variations for Tremor, Hereditary Essential, 4

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

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FUS NM_001170634.1(FUS):c.1504_1505AG[3] (p.Gly503fs)short repeat Pathogenic 665141 16:31202396-31202397 16:31191075-31191076
2 FUS NM_004960.3(FUS):c.1561C>G (p.Arg521Gly)SNV Pathogenic 16222 rs121909668 16:31202739-31202739 16:31191418-31191418
3 FUS NM_004960.3(FUS):c.646C>T (p.Arg216Cys)SNV Pathogenic 16227 rs267606832 16:31196382-31196382 16:31185061-31185061
4 FUS NM_004960.3(FUS):c.868C>T (p.Gln290Ter)SNV Pathogenic 37070 rs387907274 16:31200479-31200479 16:31189158-31189158
5 FUS NM_004960.3(FUS):c.1574C>T (p.Pro525Leu)SNV Pathogenic 280110 rs886041390 16:31202752-31202752 16:31191431-31191431
6 FUS NM_004960.4(FUS):c.669_671CGG[4] (p.Gly230_Gly231del)short repeat Conflicting interpretations of pathogenicity 704279 16:31196403-31196408 16:31185082-31185087
7 FUS NM_004960.4(FUS):c.676G>A (p.Gly226Ser)SNV Conflicting interpretations of pathogenicity 804816 16:31196412-31196412 16:31185091-31185091
8 FUS NM_004960.3(FUS):c.*48G>ASNV Conflicting interpretations of pathogenicity 493179 rs376510148 16:31202807-31202807 16:31191486-31191486
9 FUS NM_004960.3(FUS):c.1080C>T (p.Ser360=)SNV Conflicting interpretations of pathogenicity 444368 rs190724342 16:31201374-31201374 16:31190053-31190053
10 FUS NM_004960.3(FUS):c.1564A>G (p.Arg522Gly)SNV Uncertain significance 540279 rs1555509693 16:31202742-31202742 16:31191421-31191421
11 FUS NM_004960.3(FUS):c.661_663del (p.Ser221del)deletion Uncertain significance 503718 rs746633090 16:31196397-31196399 16:31185076-31185078
12 FUS NM_004960.3(FUS):c.1171C>G (p.Pro391Ala)SNV Uncertain significance 540278 rs560450437 16:31201598-31201598 16:31190277-31190277
13 FUS NM_004960.3(FUS):c.1111C>T (p.Arg371Cys)SNV Uncertain significance 566220 rs773141319 16:31201405-31201405 16:31190084-31190084
14 FUS NM_004960.3(FUS):c.685_687GGT[5] (p.Gly230_Gly231dup)short repeat Uncertain significance 582491 rs757651881 16:31196420-31196421 16:31185099-31185100
15 FUS NM_004960.3(FUS):c.743G>A (p.Arg248His)SNV Uncertain significance 581527 rs760351730 16:31196479-31196479 16:31185158-31185158
16 FUS NM_004960.3(FUS):c.*108C>TSNV Uncertain significance 567482 rs780606789 16:31202867-31202867 16:31191546-31191546
17 FUS NM_001170634.1(FUS):c.666_668CGG[8] (p.Gly229_Gly230dup)short repeat Uncertain significance 649131 16:31196402-31196403 16:31185081-31185082
18 FUS NM_004960.3(FUS):c.673G>A (p.Gly225Ser)SNV Uncertain significance 666021 16:31196409-31196409 16:31185088-31185088
19 FUS NM_004960.4(FUS):c.685_687GGT[6] (p.Gly229_Gly231dup)short repeat Uncertain significance 654997 16:31196420-31196421 16:31185099-31185100
20 FUS NM_004960.3(FUS):c.688G>T (p.Gly230Cys)SNV Uncertain significance 647759 16:31196424-31196424 16:31185103-31185103
21 FUS NM_004960.3(FUS):c.1204_1206del (p.Ser402del)deletion Uncertain significance 653781 16:31201631-31201633 16:31190310-31190312
22 FUS NM_004960.3(FUS):c.1394G>A (p.Gly465Glu)SNV Uncertain significance 659572 16:31202284-31202284 16:31190963-31190963
23 FUS NM_004960.3(FUS):c.1446C>T (p.Gly482=)SNV Uncertain significance 665814 16:31202336-31202336 16:31191015-31191015
24 FUS NC_000016.10:g.(?_31182388)_(31194881_?)dupduplication Uncertain significance 831798 16:31193709-31206202
25 FUS NM_004960.4(FUS):c.182G>A (p.Ser61Asn)SNV Uncertain significance 834592 16:31193977-31193977 16:31182656-31182656
26 FUS NM_004960.4(FUS):c.238G>A (p.Gly80Ser)SNV Uncertain significance 851344 16:31195226-31195226 16:31183905-31183905
27 FUS NM_004960.4(FUS):c.291_292delinsTA (p.Pro98Thr)indel Uncertain significance 838008 16:31195279-31195280 16:31183958-31183959
28 FUS NM_004960.4(FUS):c.493_495del (p.Ser165del)deletion Uncertain significance 850400 16:31195687-31195689 16:31184366-31184368
29 FUS NM_004960.4(FUS):c.1414C>T (p.Arg472Cys)SNV Uncertain significance 834593 16:31202304-31202304 16:31190983-31190983
30 FUS NM_004960.4(FUS):c.1545_1547dup (p.Glu516_His517insAsp)duplication Uncertain significance 843607 16:31202722-31202723 16:31191401-31191402
31 FUS NM_004960.4(FUS):c.1541+1G>ASNV Uncertain significance 847302 16:31202432-31202432 16:31191111-31191111
32 FUS NM_004960.3(FUS):c.1555C>G (p.Gln519Glu)SNV Uncertain significance 650787 16:31202733-31202733 16:31191412-31191412
33 FUS NM_004960.3(FUS):c.1292C>T (p.Pro431Leu)SNV Uncertain significance 37069 rs186547381 16:31201719-31201719 16:31190398-31190398
34 FUS NM_004960.4(FUS):c.1176G>A (p.Met392Ile)SNV Likely benign 772949 16:31201603-31201603 16:31190282-31190282
35 FUS NM_004960.4(FUS):c.744T>A (p.Arg248=)SNV Likely benign 756511 16:31196480-31196480 16:31185159-31185159
36 FUS NC_000016.10:g.31184394_31184399dupshort repeat Likely benign 766876 16:31195692-31195693 16:31184371-31184372
37 FUS NM_004960.3(FUS):c.404G>A (p.Ser135Asn)SNV Benign/Likely benign 447357 rs61732970 16:31195598-31195598 16:31184277-31184277
38 FUS NM_004960.3(FUS):c.1248C>T (p.Gly416=)SNV Benign/Likely benign 447354 rs368780804 16:31201675-31201675 16:31190354-31190354
39 FUS NM_004960.4(FUS):c.669_671CGG[7] (p.Gly231dup)short repeat Benign/Likely benign 318986 rs72550890 16:31196402-31196403 16:31185081-31185082
40 FUS NM_004960.4(FUS):c.*41G>ASNV Benign/Likely benign 318993 rs80301724 16:31202800-31202800 16:31191479-31191479
41 FUS NM_004960.3(FUS):c.1464C>T (p.Gly488=)SNV Benign/Likely benign 259593 rs150529460 16:31202354-31202354 16:31191033-31191033
42 FUS NM_004960.3(FUS):c.1156C>A (p.Arg386=)SNV Benign 318990 rs61733965 16:31201450-31201450 16:31190129-31190129
43 FUS NM_004960.3(FUS):c.524-5C>TSNV Benign 318985 rs73530287 16:31196255-31196255 16:31184934-31184934
44 FUS NM_004960.3(FUS):c.153C>T (p.Gly51=)SNV Benign 259595 rs61733962 16:31193948-31193948 16:31182627-31182627
45 FUS NM_004960.3(FUS):c.190+9T>CSNV Benign 259596 rs73530283 16:31193994-31193994 16:31182673-31182673
46 FUS NM_004960.3(FUS):c.521_523+3delGAGGTGshort repeat Benign 540281 rs537605135 16:31195715-31195720 16:31184372-31184377
47 FUS NM_004960.3(FUS):c.636C>T (p.Asp212=)SNV Benign 540284 rs147528034 16:31196372-31196372 16:31185051-31185051
48 FUS NM_004960.3(FUS):c.1566G>A (p.Arg522=)SNV Benign 540280 rs138901914 16:31202744-31202744 16:31191423-31191423
49 FUS NM_004960.3(FUS):c.198T>C (p.Tyr66=)SNV Benign 540282 rs144853447 16:31195186-31195186 16:31183865-31183865
50 FUS NM_004960.4(FUS):c.237C>T (p.Gly79=)SNV Benign 725194 16:31195225-31195225 16:31183904-31183904

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

73
# 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

Pathways related to Tremor, Hereditary Essential, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 PCBP2 PCBP1 HNRNPA1L2 FUS
2 11.08 PCBP2 PCBP1 FUS
3 10.57 PCBP2 PCBP1

GO Terms for Tremor, Hereditary Essential, 4

Cellular components related to Tremor, Hereditary Essential, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.8 LINGO4 LINGO2 LINGO1

Biological processes related to Tremor, Hereditary Essential, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.54 PCBP3 PCBP2 PCBP1
2 mRNA splicing, via spliceosome GO:0000398 9.43 PCBP2 PCBP1 FUS
3 RNA metabolic process GO:0016070 9.32 PCBP2 PCBP1
4 viral RNA genome replication GO:0039694 9.16 PCBP2 PCBP1
5 mRNA metabolic process GO:0016071 8.96 PCBP3 PCBP2
6 regulation of RNA metabolic process GO:0051252 8.92 PCBP3 PCBP2 PCBP1 HNRNPA1L2

Molecular functions related to Tremor, Hereditary Essential, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.65 PCBP3 PCBP2 PCBP1 HNRNPA1L2 FUS
2 nucleic acid binding GO:0003676 9.55 PCBP3 PCBP2 PCBP1 HNRNPA1L2 FUS
3 single-stranded DNA binding GO:0003697 9.32 PCBP2 PCBP1
4 mRNA binding GO:0003729 9.26 PCBP3 PCBP2 PCBP1 HNRNPA1L2
5 C-rich single-stranded DNA binding GO:1990829 8.62 PCBP3 PCBP2

Sources for Tremor, Hereditary Essential, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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