ETM6
MCID: TRM029
MIFTS: 17

Tremor, Hereditary Essential, 6 (ETM6)

Categories: Genetic 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 56 6
Tremor, Hereditary Essential, Type 6 39
Etm6 56

Characteristics:

OMIM:

56
Miscellaneous:
genetic anticipation
adult-onset
repeat size ranged from 60 to 250 (average of 118)

Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 56 618866
OMIM Phenotypic Series 56 PS190300

Summaries for Tremor, Hereditary Essential, 6

OMIM : 56 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 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 (summary by Sun et al., 2020). For a phenotypic description and a discussion of genetic heterogeneity of hereditary essential tremor, see ETM1 (190300). (618866)

MalaCards based summary : Tremor, Hereditary Essential, 6, is also known as tremor, hereditary essential, type 6. An important gene associated with Tremor, Hereditary Essential, 6 is NOTCH2NLC (Notch 2 N-Terminal Like C). Affiliated tissues include brain and skin.

Related Diseases for Tremor, Hereditary Essential, 6

Symptoms & Phenotypes for Tremor, Hereditary Essential, 6

Symptoms via clinical synopsis from OMIM:

56
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

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, Skin

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. 56 6
31819945 2020
2
Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. 6
31332380 2019
3
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. 6
31332381 2019
4
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 NOTCH2NLC, (GGC)n REPEAT EXPANSIONNT expansion 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
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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