Tremor, hereditary essential, 6

Preferred Label : Tremor, hereditary essential, 6;

Symbol : ETM6;

CISMeF acronym : ETM6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by trinucleotide repeat expansion (GGC)n in the NOTCH2 N-terminal-like C gene (NOTCH2NLC, 618025.0001);

Laboratory abnormalities : Eosinophilic intranuclear inclusions in fibroblasts and sweat gland cells; Inclusions stain positively for ubiquitin and p62 (SQSTM1);

Prefixed ID : #618866;

Details

Origin ID

618866;

UMLS CUI

C5394329;

Genes related to phenotype
- Notch2 n-terminal-like C [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Head tremor [HPO term]
- Kinetic tremor [HPO term]
- Postural tremor [HPO term]
- Vocal tremor [HPO term]
Not associated HPO term(s)
- Ataxia [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Leukodystrophy [HPO term]
- Pollakisuria [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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