ETM5
MCID: TRM022
MIFTS: 28

Tremor, Hereditary Essential, 5 (ETM5)

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

Aliases & Classifications for Tremor, Hereditary Essential, 5

MalaCards integrated aliases for Tremor, Hereditary Essential, 5:

Name: Tremor, Hereditary Essential, 5 57 29 6
Etm5 57 12 72
Essential Tremor 5 12 15
Tremor, Essential Hereditary, Type 5 39
Essential Tremor, Hereditary, 5 57
Tremor, Hereditary Essential 5 72
Hereditary Essential Tremor 5 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
incomplete penetrance
age-dependent penetrance
variable severity
variable age at onset (range adolescence to late adulthood)

Inheritance:
autosomal dominant


HPO:

31
tremor, hereditary essential, 5:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity slow progression age-dependent penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111432
OMIM® 57 616736
OMIM Phenotypic Series 57 PS190300
MeSH 44 D020329
SNOMED-CT via HPO 68 263681008 30721006 56610005

Summaries for Tremor, Hereditary Essential, 5

OMIM® : 57 Hereditary essential tremor-5 is an autosomal dominant neurologic disorder characterized by kinetic, intention, and/or postural tremor mainly affecting the upper limbs. The age at onset and severity are highly variable, even within families (summary by Hor et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300). (616736) (Updated 20-May-2021)

MalaCards based summary : Tremor, Hereditary Essential, 5, also known as etm5, is related to tremor and tremor, hereditary essential, 2. An important gene associated with Tremor, Hereditary Essential, 5 is TENM4 (Teneurin Transmembrane Protein 4). Affiliated tissues include tongue, and related phenotypes are tongue tremor and intention tremor

Disease Ontology : 12 An essential tremor that has material basis in heterozygous mutation in TENM4 on chromosome 11q14.1.

UniProtKB/Swiss-Prot : 72 Tremor, hereditary essential 5: 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.

Related Diseases for Tremor, Hereditary Essential, 5

Graphical network of the top 20 diseases related to Tremor, Hereditary Essential, 5:



Diseases related to Tremor, Hereditary Essential, 5

Symptoms & Phenotypes for Tremor, Hereditary Essential, 5

Human phenotypes related to Tremor, Hereditary Essential, 5:

31
# Description HPO Frequency HPO Source Accession
1 tongue tremor 31 very rare (1%) HP:0031947
2 intention tremor 31 HP:0002080
3 postural tremor 31 HP:0002174

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intention tremor
postural tremor
kinetic tremor
tremor, essential
tremor mainly affects the upper limbs
more
Head And Neck Mouth:
tongue tremor (in some patients)

Clinical features from OMIM®:

616736 (Updated 20-May-2021)

Drugs & Therapeutics for Tremor, Hereditary Essential, 5

Search Clinical Trials , NIH Clinical Center for Tremor, Hereditary Essential, 5

Genetic Tests for Tremor, Hereditary Essential, 5

Genetic tests related to Tremor, Hereditary Essential, 5:

# Genetic test Affiliating Genes
1 Tremor, Hereditary Essential, 5 29 TENM4

Anatomical Context for Tremor, Hereditary Essential, 5

MalaCards organs/tissues related to Tremor, Hereditary Essential, 5:

40
Tongue

Publications for Tremor, Hereditary Essential, 5

Articles related to Tremor, Hereditary Essential, 5:

# Title Authors PMID Year
1
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. 57 6
26188006 2015
2
Teneurin-4 is a novel regulator of oligodendrocyte differentiation and myelination of small-diameter axons in the CNS. 57
22915103 2012
3
[Negative predictive value of (123)I Ioflupane SPECT in movement disorders]. 61
19232169 2009
4
Identification of psychogenic, dystonic, and other organic tremors by a coherence entrainment test. 61
15022179 2004

Variations for Tremor, Hereditary Essential, 5

ClinVar genetic disease variations for Tremor, Hereditary Essential, 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TENM4 NM_001098816.3(TENM4):c.4100C>A (p.Thr1367Asn) SNV Pathogenic 219133 rs763485258 GRCh37: 11:78419515-78419515
GRCh38: 11:78708470-78708470
2 TENM4 NM_001098816.3(TENM4):c.4324G>A (p.Ala1442Thr) SNV Pathogenic 219134 rs375681722 GRCh37: 11:78413334-78413334
GRCh38: 11:78702289-78702289
3 TENM4 NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met) SNV Pathogenic 219135 rs538881762 GRCh37: 11:78437262-78437262
GRCh38: 11:78726217-78726217
4 TENM4 NM_001098816.3(TENM4):c.1110G>A (p.Trp370Ter) SNV Pathogenic 1031825 GRCh37: 11:78574152-78574152
GRCh38: 11:78863107-78863107
5 TENM4 NM_001098816.3(TENM4):c.346G>A (p.Asp116Asn) SNV Uncertain significance 1031826 GRCh37: 11:78775930-78775930
GRCh38: 11:79064885-79064885
6 TENM4 NM_001098816.3(TENM4):c.4895G>A (p.Arg1632His) SNV Uncertain significance 806721 rs199687168 GRCh37: 11:78412763-78412763
GRCh38: 11:78701718-78701718
7 TENM4 NM_001098816.3(TENM4):c.6668T>C (p.Leu2223Pro) SNV Uncertain significance 931031 GRCh37: 11:78380722-78380722
GRCh38: 11:78669677-78669677
8 TENM4 NM_001098816.3(TENM4):c.4681C>T (p.Arg1561Trp) SNV Uncertain significance 931802 GRCh37: 11:78412977-78412977
GRCh38: 11:78701932-78701932
9 TENM4 NM_001098816.3(TENM4):c.2393-8T>C SNV Uncertain significance 1031073 GRCh37: 11:78482191-78482191
GRCh38: 11:78771146-78771146
10 TENM4 NM_001098816.3(TENM4):c.6698G>A (p.Arg2233Gln) SNV Uncertain significance 1031074 GRCh37: 11:78380692-78380692
GRCh38: 11:78669647-78669647

UniProtKB/Swiss-Prot genetic disease variations for Tremor, Hereditary Essential, 5:

72
# Symbol AA change Variation ID SNP ID
1 TENM4 p.Val1138Met VAR_076521 rs538881762
2 TENM4 p.Thr1367Asn VAR_076522 rs763485258
3 TENM4 p.Ala1442Thr VAR_076523 rs375681722

Expression for Tremor, Hereditary Essential, 5

Search GEO for disease gene expression data for Tremor, Hereditary Essential, 5.

Pathways for Tremor, Hereditary Essential, 5

GO Terms for Tremor, Hereditary Essential, 5

Cellular components related to Tremor, Hereditary Essential, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.35 TENM4 LINGO4 LINGO2 LINGO1 DNAJC13
2 extracellular matrix GO:0031012 8.8 LINGO4 LINGO2 LINGO1

Sources for Tremor, Hereditary Essential, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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