ETM5
MCID: TRM022
MIFTS: 18

Tremor, Hereditary Essential, 5 (ETM5)

Categories: Genetic 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 75
Essential Tremor, Hereditary, 5 57
Tremor, Hereditary Essential 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
tremor, hereditary essential, 5:
Onset and clinical course variable expressivity age-dependent penetrance slow progression
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616736
MeSH 44 D020329
SNOMED-CT via HPO 69 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)

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

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Tremor, Hereditary Essential, 5

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Tremor, Hereditary Essential, 5:

32
# Description HPO Frequency HPO Source Accession
1 intention tremor 32 HP:0002080
2 postural tremor 32 HP:0002174

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:

41
Tongue

Publications for Tremor, Hereditary Essential, 5

Variations for Tremor, Hereditary Essential, 5

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TENM4 NM_001098816.2(TENM4): c.4100C> A (p.Thr1367Asn) single nucleotide variant Pathogenic rs763485258 GRCh38 Chromosome 11, 78708470: 78708470
2 TENM4 NM_001098816.2(TENM4): c.4100C> A (p.Thr1367Asn) single nucleotide variant Pathogenic rs763485258 GRCh37 Chromosome 11, 78419515: 78419515
3 TENM4 NM_001098816.2(TENM4): c.4324G> A (p.Ala1442Thr) single nucleotide variant Pathogenic rs375681722 GRCh37 Chromosome 11, 78413334: 78413334
4 TENM4 NM_001098816.2(TENM4): c.4324G> A (p.Ala1442Thr) single nucleotide variant Pathogenic rs375681722 GRCh38 Chromosome 11, 78702289: 78702289
5 TENM4 NM_001098816.2(TENM4): c.3412G> A (p.Val1138Met) single nucleotide variant Pathogenic rs538881762 GRCh38 Chromosome 11, 78726217: 78726217
6 TENM4 NM_001098816.2(TENM4): c.3412G> A (p.Val1138Met) single nucleotide variant Pathogenic rs538881762 GRCh37 Chromosome 11, 78437262: 78437262

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

Sources for Tremor, Hereditary Essential, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....