ETM6
MCID: TRM029
MIFTS: 19

Tremor, Hereditary Essential, 6 (ETM6)

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

Aliases & Classifications for Tremor, Hereditary Essential, 6

MalaCards integrated aliases for Tremor, Hereditary Essential, 6:

Name: Tremor, Hereditary Essential, 6 57 6
Etm6 57 73
Tremor, Hereditary Essential, Type 6 39
Tremor, Hereditary Essential 6 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
genetic anticipation
adult-onset
repeat size ranged from 60 to 250 (average of 118)

Inheritance:
autosomal dominant


HPO:

31
tremor, hereditary essential, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618866
OMIM Phenotypic Series 57 PS190300
MeSH 44 D020329

Summaries for Tremor, Hereditary Essential, 6

OMIM® : 57 Hereditary essential tremor-6 (ETM6) is an autosomal dominant neurologic disorder characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs. Some patients may have involvement of the head, trunk, lower limbs, and/or voice. Additional neurologic features, such as cognitive impairment or pyramidal signs, are usually not observed. Brain imaging does not show cerebellar atrophy or leukodystrophy. Skin biopsy shows intranuclear eosinophilic inclusions in fibroblasts and sweat gland cells, which may be used for diagnosis. There is evidence of genetic anticipation, with progressive earlier age at onset in younger generations. In rare cases, the phenotype may convert to NIID over time (summary by Sun et al., 2020; Ng et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300). (618866) (Updated 05-Mar-2021)

MalaCards based summary : Tremor, Hereditary Essential, 6, is also known as etm6. An important gene associated with Tremor, Hereditary Essential, 6 is NOTCH2NLC (Notch 2 N-Terminal Like C). Affiliated tissues include brain, and related phenotypes are head tremor and vocal tremor

UniProtKB/Swiss-Prot : 73 Tremor, hereditary essential 6: A form of essential tremor, 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. ETM6 inheritance is autosomal dominant.

Related Diseases for Tremor, Hereditary Essential, 6

Symptoms & Phenotypes for Tremor, Hereditary Essential, 6

Human phenotypes related to Tremor, Hereditary Essential, 6:

31
# Description HPO Frequency HPO Source Accession
1 head tremor 31 very rare (1%) HP:0002346
2 vocal tremor 31 very rare (1%) HP:0012477
3 postural tremor 31 HP:0002174
4 kinetic tremor 31 HP:0030186

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
postural tremor
kinetic tremor
essential tremor
upper limb tremor
lower limb involvement (in some patients)
more
Head And Neck Head:
head tremor (in some patients)

Laboratory Abnormalities:
inclusions stain positively for ubiquitin and p62 (sqstm1)
eosinophilic intranuclear inclusions in fibroblasts and sweat gland cells

Voice:
voice tremor (in some patients)

Clinical features from OMIM®:

618866 (Updated 05-Mar-2021)

Drugs & Therapeutics for Tremor, Hereditary Essential, 6

Search Clinical Trials , NIH Clinical Center for Tremor, Hereditary Essential, 6

Genetic Tests for Tremor, Hereditary Essential, 6

Anatomical Context for Tremor, Hereditary Essential, 6

MalaCards organs/tissues related to Tremor, Hereditary Essential, 6:

40
Brain

Publications for Tremor, Hereditary Essential, 6

Articles related to Tremor, Hereditary Essential, 6:

# Title Authors PMID Year
1
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor. 57 6
31819945 2020
2
NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor: Variable Disease Expressivity on Long-Term Follow-up. 57
32495371 2020
3
GGC repeat expansion in NOTCH2NLC is rare in European patients with essential tremor. 57
32516806 2020
4
Essential tremor as the early symptom of NOTCH2NLC gene-related repeat expansion disorder. 57
32449905 2020
5
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. 6
31332381 2019
6
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. 6
31178126 2019

Variations for Tremor, Hereditary Essential, 6

ClinVar genetic disease variations for Tremor, Hereditary Essential, 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOTCH2NLC NM_001364012.2:c.-164GGC[(66_517)] Microsatellite Pathogenic 691867

Expression for Tremor, Hereditary Essential, 6

Search GEO for disease gene expression data for Tremor, Hereditary Essential, 6.

Pathways for Tremor, Hereditary Essential, 6

GO Terms for Tremor, Hereditary Essential, 6

Sources for Tremor, Hereditary Essential, 6

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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