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ETM6
MCID: TRM029
MIFTS: 19
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Tremor, Hereditary Essential, 6 (ETM6)
Categories:
Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Tremor, Hereditary Essential, 6:
Name: Tremor, Hereditary Essential, 6
57
6
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Oral diseases Mental diseases |
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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. |
Diseases in the Tremor family: |
Human phenotypes related to Tremor, Hereditary Essential, 6:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618866 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Tremor, Hereditary Essential, 6:40
Brain
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Articles related to Tremor, Hereditary Essential, 6:
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Genes related to Tremor, Hereditary Essential, 6 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Tremor, Hereditary Essential, 6.
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